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1. Biomedical articles (top 50; 2009 to 2014)
1. |||||..... 51%  Blaydon DC, Lind LK, Plagnol V, Linton KJ, Smith FJ, Wilson NJ, McLean WH, Munro CS, South AP, Leigh IM, O'Toole EA, Lundström A, Kelsell DP: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma. Am J Hum Genet; 2013 Aug 8;93(2):330-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma is characterized by the adoption of a white, spongy appearance of affected areas upon exposure to water.
  • Immunofluorescence data reveal the presence of AQP5 at the plasma membrane in the stratum granulosum of both normal and affected palmar epidermis, indicating that the altered AQP5 proteins are trafficked in the normal manner.
  • We demonstrate here a role for AQP5 in the palmoplantar epidermis and propose that the altered AQP5 proteins retain the ability to form open channels in the cell membrane and conduct water.
  • [MeSH-major] Aquaporin 5 / genetics. Cell Membrane / metabolism. Epidermis / metabolism. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation. Wrist / physiopathology

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  • [Copyright] Copyright © 2013 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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  • (PMID = 23830519.001).
  • [ISSN] 1537-6605
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Grant] United Kingdom / Wellcome Trust / / 098439; United Kingdom / Medical Research Council / / G0802780; United Kingdom / Medical Research Council / / G1001158; United Kingdom / Medical Research Council / / MC/ U120088463
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AQP5 protein, human; 0 / Aquaporin 5; 059QF0KO0R / Water; Palmoplantar Keratoderma, Nonepidermolytic
  • [Other-IDs] NLM/ PMC3738836
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2. ||||...... 43%  Das A, Kumar D, Das NK: Diffuse non-epidermolytic palmoplantar keratoderma. Indian Pediatr; 2013 Oct;50(10):979
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diffuse non-epidermolytic palmoplantar keratoderma.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology


3. ||||...... 41%  Blaydon DC, Etheridge SL, Risk JM, Hennies HC, Gay LJ, Carroll R, Plagnol V, McRonald FE, Stevens HP, Spurr NK, Bishop DT, Ellis A, Jankowski J, Field JK, Leigh IM, South AP, Kelsell DP: RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome. Am J Hum Genet; 2012 Feb 10;90(2):340-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] RHBDF2 mutations are associated with tylosis, a familial esophageal cancer syndrome.
  • Tylosis esophageal cancer (TOC) is an autosomal-dominant syndrome characterized by palmoplantar keratoderma, oral precursor lesions, and a high lifetime risk of esophageal cancer.
  • [MeSH-major] Esophageal Neoplasms / genetics. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation, Missense. Serine Proteases / genetics

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  • [Copyright] Copyright © 2012 The American Society of Human Genetics. Published by Elsevier Inc. All rights reserved.
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  • (PMID = 22265016.001).
  • [ISSN] 1537-6605
  • [Journal-full-title] American journal of human genetics
  • [ISO-abbreviation] Am. J. Hum. Genet.
  • [Language] eng
  • [Grant] United Kingdom / Cancer Research UK / / 13044; United Kingdom / Cancer Research UK / / C5314/A6695; United Kingdom / Cancer Research UK / / C7738/A10476
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Untranslated Regions; EC 2.7.10.1 / EGFR protein, human; EC 2.7.10.1 / Receptor, Epidermal Growth Factor; EC 3.4.- / Serine Proteases; EC 3.4.21.105 / RHBDL2 protein, human
  • [Other-IDs] NLM/ PMC3276661
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4. ||||...... 39%  de Souza CA, Santos Ada C, Santos Lda C, Carneiro AL: [Hereditary tylosis syndrome and esophagus cancer]. An Bras Dermatol; 2009 Sep-Oct;84(5):527-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Hereditary tylosis syndrome and esophagus cancer].
  • [Transliterated title] Síndrome tilose hereditária e câncer de esôfago.
  • Tylosis palmoplantaris is an autosomal dominant disorder characterized by hyperkeratosis of palms and soles.
  • Familial tylosis palmoplantaris comprises two forms: epidermolytic and non-epidermolytic.
  • The association of tylosis palmoplantaris with esophageal cancer is called Howel-Evans syndrome.
  • [MeSH-major] Carcinoma, Squamous Cell / complications. Esophageal Neoplasms / complications. Keratoderma, Palmoplantar, Diffuse / complications

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  • (PMID = 20098858.001).
  • [ISSN] 1806-4841
  • [Journal-full-title] Anais brasileiros de dermatologia
  • [ISO-abbreviation] An Bras Dermatol
  • [Language] por
  • [Publication-type] Case Reports; English Abstract; Journal Article
  • [Publication-country] Brazil
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5. |||....... 27%  Cooper IF, Siadaty MS: 'Congenital Abnormalities' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications. BioMedLib Review; CongenitalAbnormality;DiffusePalmoplantarKeratoderma:706363113. ISSN: 2331-5717. 2014/1/26
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  • [Title] 'Congenital Abnormalities' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Congenital Abnormality' for 'diffuse palmoplantar keratoderma'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Congenital Abnormality'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 348 publications.
  • Here are the top 10.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Karadag AS et al: A family of Unna-Thost disease with one of them showing findings of epidermolytic keratoderma.
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.
  • Maruyama R et al: A case of Unna-Thost disease accompanied by Epidermophyton floccosum infection.
  • Liu XP et al: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706363113.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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6. ||........ 15%  Lestre S, Lozano E, Meireles C, Barata Feio A: Autoimmune thyroiditis presenting as palmoplantar keratoderma. Case Rep Med; 2010;2010:604890
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  • [Title] Autoimmune thyroiditis presenting as palmoplantar keratoderma.
  • Palmoplantar keratoderma is a heterogeneous group of hereditary and acquired disorders characterized by abnormal thickening of palms and soles.
  • Hypothyroidism is an unusual cause of palmoplantar keratoderma, rarely reported in the literature.
  • We report a case of a 43-year-old woman presented with a 3-month history of a diffuse palmoplantar hyperkeratosis unresponsive to topical keratolytics and corticosteroids.
  • Other causes of acquired palmoplantar keratoderma were excluded.
  • The diagnosis of underlying causes for acquired palmoplantar keratoderma can be a difficult task; however its recognition is essential for successful treatment results.
  • Although a very rare association, hypothyroidism must be suspected in patients with acquired palmoplantar keratoderma, particularly when it occurs in association with systemic symptoms.

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  • (PMID = 20300544.001).
  • [ISSN] 1687-9635
  • [Journal-full-title] Case reports in medicine
  • [ISO-abbreviation] Case Rep Med
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] United States
  • [Other-IDs] NLM/ PMC2838360
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7. |||....... 27%  Cooper IF, Siadaty MS: 'Diseases or Syndromes' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications. BioMedLib Review; DiseaseOrSyndrome;DiffusePalmoplantarKeratoderma:706365592. ISSN: 2331-5717. 2014/3/26
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  • [Title] 'Diseases or Syndromes' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Disease or Syndrome' for 'diffuse palmoplantar keratoderma'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Disease or Syndrome'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 355 publications.
  • Here are the top 10.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Karadag AS et al: A family of Unna-Thost disease with one of them showing findings of epidermolytic keratoderma.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.
  • Liu XP et al: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Do JE et al: Capecitabine-induced diffuse palmoplantar keratoderma: is it a sequential event of hand-foot syndrome?.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706365592.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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8. ||........ 22%  Shimomura Y, Wajid M, Weiser J, Kraemer L, Christiano AM: Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma. Clin Exp Dermatol; 2010 Oct;35(7):759-64
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
  • Keratin 9 (K9) is expressed only in the suprabasal layers of palmoplantar epidermis.
  • Mutations in the keratin 9 gene (KRT9) have been shown to cause epidermolytic palmoplantar keratoderma (EPPK; OMIM 144200), an autosomal dominant genodermatosis characterized clinically by diffuse hyperkeratosis limited to the palms and soles, and histologically by epidermolysis in suprabasal layers of the epidermis.
  • The results of our study further underscore the crucial role of K9 protein in the palmoplantar epidermis.
  • [MeSH-major] Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation

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  • [Copyright] © 2009 The Author(s). Journal compilation © 2009 British Association of Dermatologists.
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  • (PMID = 19874353.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Grant] United States / NIAMS NIH HHS / AR / R01 AR044924; United States / NIAMS NIH HHS / AR / R01AR44924
  • [Publication-type] Journal Article; Research Support, N.I.H., Extramural
  • [Publication-country] England
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9
  • [Other-IDs] NLM/ NIHMS142982; NLM/ PMC2945290
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9. ||||||.... 60%  Wohltmann WE, MacAlpine DM, Hodson DS: Palmoplantar keratoderma as the initial sign in a peripheral T-cell lymphoma. Dermatol Online J; 2010;16(5):3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Palmoplantar keratoderma as the initial sign in a peripheral T-cell lymphoma.
  • A 27-year-old male with an acquired severe, diffuse palmoplantar keratoderma as the initial sign of peripheral T-cell lymphoma is reported.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / complications. Lymphoma, T-Cell, Peripheral / complications. Paraneoplastic Syndromes / diagnosis


10. ||||||.... 55%  Liu XP, Ling J, Xiong H, Shi XL, Sun X, Pan Q, Hu ZM, Wu LQ, Liang DS, Long ZG, Dai HP, Xia JH, Xia K: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree. J Eur Acad Dermatol Venereol; 2009 Sep;23(9):1079-82
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Diffuse palmoplantar keratoderma (DPPK) is an autosomal dominant genodermatosis characterized by uniform hyperkeratosis of the palm and sole epidermis.
  • This disorder can be caused by mutations in the genes keratin 1, keratin 9, keratin 16, desmoglein 1 and plakoglobin.
  • [MeSH-major] Keratin-1 / genetics. Keratoderma, Palmoplantar, Diffuse / ethnology. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation, Missense / genetics. Pedigree
  • [MeSH-minor] China. Female. Genetic Predisposition to Disease / ethnology. Genetic Predisposition to Disease / genetics. Genotype. Humans. Intermediate Filaments / pathology. Male. Phenotype


11. |||||..... 47%  Bassetto F, Tiengo C, Sferrazza R, Belloni-Fortina A, Alaibac M: Vohwinkel syndrome: treatment of pseudo-ainhum. Int J Dermatol; 2010 Jan;49(1):79-82
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Vohwinkel syndrome: treatment of pseudo-ainhum.
  • BACKGROUND: Vohwinkel syndrome or keratoderma hereditaria mutilans is a rare autosomal dominant palmoplantar keratosis which manifests in infants and becomes more evident in adulthood.
  • The disease mostly occurs in white women, where constricting fibrous bands appear on the digits and can lead to progressive strangulation and auto-amputation (pseudo-ainhum).
  • AIM: The treatment of this keratoderma is very difficult and tends to be symptomatic: topical keratolytics and systemic retinoids have been used to treat hyperkeratosis, but without consistent results.
  • RESULTS AND CONCLUSION: In this study, we present an additional case of Vohwinkel syndrome in which constrictive bands of the fifth digit in the left hand were treated with a cross finger flap, with a favorable outcome after 18 months of follow-up.
  • [MeSH-major] Ainhum / etiology. Ainhum / surgery. Keratoderma, Palmoplantar, Diffuse / complications. Keratoderma, Palmoplantar, Diffuse / surgery. Reconstructive Surgical Procedures


12. ||||...... 40%  El Amri I, Mamai O, Ghariani N, Denguezli M, Sriha B, Adala L, Saad A, Gribaa M, Nouira R: [Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family]. Ann Dermatol Venereol; 2010 Apr;137(4):269-75
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Clinical and genetic characteristics of Buschke-Fischer-Brauer's disease in a Tunisian family].
  • [Transliterated title] Etude clinique et génétique de la kératodermie palmoplantaire de Buschke-Fischer-Brauer dans une famille tunisienne.
  • BACKGROUND: Punctate palmoplantar keratoderma (PPPK), or Buschke-Fischer-Brauer's disease, is a rare form of genodermatosis with autosomal dominant transmission and with variable penetrance.
  • Two loci were found to be linked to this disease: one on 15q22 and the other on 8q24.
  • Clinically, lesions ranged from few keratotic papules on the palms to coalescence of lesions in plaques over palmar and/or plantar surfaces.
  • Further screening studies to identify mutated genes in the region of interest will help us to understand the molecular basis of this disease and hopefully to propose suitable treatment.
  • [MeSH-major] Chromosomes, Human, Pair 15 / genetics. Keratoderma, Palmoplantar, Diffuse / genetics

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  • [Copyright] 2010 Elsevier Masson SAS. All rights reserved.
  • (PMID = 20417359.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] English Abstract; Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 9007-49-2 / DNA
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13. ||||...... 39%  Yusuf SM, Mijinyawa MS, Maiyaki MB, Mohammed AZ: Ichthyosis hystrix Curth-Macklin type in an African girl. Int J Dermatol; 2009 Dec;48(12):1343-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • Ichthyosis hystrix Curth-Macklin type is a rare autosomal dominant skin disorder characterized by extensive hyperkeratosis and palmo-plantar keratoderma.
  • [MeSH-major] Ichthyosis / pathology. Keratoderma, Palmoplantar, Diffuse / pathology


14. ||||...... 38%  Varela AB, Blanco Rodríguez MM, Boullosa PE, Silva JG: Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family. Eur J Gastroenterol Hepatol; 2011 Mar;23(3):286-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Tylosis A with squamous cell carcinoma of the oesophagus in a Spanish family.
  • Palmoplantar tylosis is a focal nonepidermolytic palmoplantar hyperkeratosis, which is inherited as an autosomal dominant condition.
  • Two types have been described: an early onset type B tylosis, which occurs in the first year of life and is usually benign, and type A tylosis, which occurs between the ages of 5 and 15 years.
  • Type A tylosis has been associated with a high incidence of oesophageal carcinoma in three families in England, Germany and the USA.
  • This study describes an additional family from Spain with tylosis A, without any known relation to those described before.
  • [MeSH-major] Carcinoma, Squamous Cell / diagnosis. Esophageal Neoplasms / diagnosis. Keratoderma, Palmoplantar, Diffuse / diagnosis


15. |||....... 34%  Saarinen S, Vahteristo P, Lehtonen R, Aittomäki K, Launonen V, Kiviluoto T, Aaltonen LA: Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer. Fam Cancer; 2012 Sep;11(3):525-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Analysis of a Finnish family confirms RHBDF2 mutations as the underlying factor in tylosis with esophageal cancer.
  • Tylosis with esophageal cancer (TOC) is a rare familial cancer syndrome inherited in an autosomal-dominant manner and characterized by esophageal cancer susceptibility and hyperkeratotic skin lesions.
  • Thus, we confirmed RHBDF2 mutations as the underlying cause of the TOC syndrome and our results suggest that the TOC associated mutations might be specific for this particular site in the RHBDF2 gene.
  • [MeSH-major] Carrier Proteins / genetics. Esophageal Neoplasms / genetics. Keratoderma, Palmoplantar, Diffuse / genetics. Mutation, Missense

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  • (PMID = 22638770.001).
  • [ISSN] 1573-7292
  • [Journal-full-title] Familial cancer
  • [ISO-abbreviation] Fam. Cancer
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / Carrier Proteins; 0 / RHBDF2 protein, human
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16. |||....... 34%  Alavi A, Shahshahani MM, Klotzle B, Fan JB, Ronaghi M, Elahi E: Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4. J Dermatol; 2012 Apr;39(4):375-81
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Manifestation of diffuse yellowish keratoderma on the palms and soles in autosomal recessive congenital ichthyosis patients may be indicative of mutations in NIPAL4.
  • Ichthyosis is a heterogeneous disorder characterized by abnormal skin scaling over the whole body.
  • Seven genes have been identified to be causative of ARCI, and these account for disease in 60-80% of the patients.
  • Notably, all NIPAL4 mutation-bearing patients manifested diffuse yellowish keratoderma on the palms and soles.
  • We provide evidence suggesting presentation of this diffuse yellowish keratoderma may be indicative of mutations in NIPAL4, providing an easily assessable genotype-phenotype correlation.
  • [MeSH-major] Ichthyosiform Erythroderma, Congenital / genetics. Ichthyosiform Erythroderma, Congenital / pathology. Ichthyosis, Lamellar / genetics. Ichthyosis, Lamellar / pathology. Keratoderma, Palmoplantar, Diffuse / genetics. Keratoderma, Palmoplantar, Diffuse / pathology. Receptors, Cell Surface / genetics


17. |||....... 33%  Winik BC, Asial RA, McGrath JA, South AP, Boente MC: Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. Br J Dermatol; 2009 Apr;160(4):868-74
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder.
  • We describe two boys with curly hair, palmoplantar keratoderma and skin fragility who presented clinical and histological features similar, but not identical, to those exhibited by patients with ectodermal dysplasia-skin fragility syndrome (McGrath syndrome) and other genetic desmosomal defects such as Carvajal syndrome and Naxos disease.
  • Clinical features included trauma-induced blisters and erosions, palmoplantar keratoderma and hyperkeratotic, fissured plaques with perioral involvement.
  • Additional studies of the family history and of the desmoplakin, plakoglobin and desmoglein 1 genotype for both patients may help further elucidate the molecular cause of this variation on ectodermal dysplasia-skin fragility syndrome.
  • [MeSH-major] Desmosomes / pathology. Ectodermal Dysplasia / pathology. Hair Diseases / pathology. Keratoderma, Palmoplantar, Diffuse / pathology. Skin / pathology

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  • (PMID = 19067702.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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18. |||....... 31%  Smart H, Kia R, Subramanian S, Khalid S, Campbell F, Ellis A: Defining the endoscopic appearances of tylosis using conventional and narrow-band imaging: a case series. Endoscopy; 2011 Aug;43(8):727-30
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Defining the endoscopic appearances of tylosis using conventional and narrow-band imaging: a case series.
  • Tylosis is an autosomal dominant skin disorder strongly associated with esophageal squamous cell cancer.
  • We present a single-operator experience of utilizing conventional endoscopy and narrow-band imaging with magnification to characterize esophageal appearances in tylosis.
  • Nineteen consecutive patients with tylosis attending for surveillance endoscopy were studied.
  • This report is the first to characterize the endoscopic appearances in tylosis.
  • [MeSH-major] Carcinoma, Squamous Cell / pathology. Esophageal Neoplasms / pathology. Esophagoscopy / methods. Image Enhancement / methods. Keratoderma, Palmoplantar, Diffuse / pathology. Papilloma / pathology. Precancerous Conditions / pathology

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  • [Copyright] © Georg Thieme Verlag KG Stuttgart · New York.
  • (PMID = 21623561.001).
  • [ISSN] 1438-8812
  • [Journal-full-title] Endoscopy
  • [ISO-abbreviation] Endoscopy
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] Hyperkeratosis of the palms and soles and esophageal papillomas
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19. |||....... 30%  Scott-Lang VE, McKay DA: Spiny keratoderma successfully treated with acitretin. Clin Exp Dermatol; 2013 Jan;38(1):91-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spiny keratoderma successfully treated with acitretin.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology

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  • [CommentOn] Clin Exp Dermatol. 2011 Dec;36(8):923-4 [22074372.001]
  • (PMID = 22731658.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Letter
  • [Publication-country] England
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20. |||....... 25%  Feneran AN, Tey HL, Mills KC, Yosipovitch G: I have spikes on my hands. Clin Exp Dermatol; 2011 Dec;36(8):923-4
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology

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  • [CommentIn] Clin Exp Dermatol. 2013 Jan;38(1):91-2 [22731658.001]
  • (PMID = 22074372.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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21. |||....... 25%  Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications. BioMedLib Review; QualitativeConcept;DiffusePalmoplantarKeratoderma:706453978. ISSN: 2331-5717. 2014/10/27
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  • [Title] 'Qualitative Concepts' associated with 'Diffuse Palmoplantar Keratoderma': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'diffuse palmoplantar keratoderma'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 20 publications, and group two 325 publications.
  • Here are the top 10.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Engin H et al: Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.
  • Liu XP et al: Mutation L437P in the 2B domain of keratin 1 causes diffuse palmoplantar keratoderma in a Chinese pedigree.
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706453978.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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22. |||....... 25%  Walsh SN, Bell RC: Spiny projections on the palms and soles. Spiny keratoderma of the palms and soles. Am J Dermatopathol; 2010 May;32(3):281, 313
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Spiny projections on the palms and soles. Spiny keratoderma of the palms and soles.
  • [MeSH-major] Keratoderma, Palmoplantar, Diffuse / pathology. Skin / pathology

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  • (PMID = 19755909.001).
  • [ISSN] 1533-0311
  • [Journal-full-title] The American Journal of dermatopathology
  • [ISO-abbreviation] Am J Dermatopathol
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / Antimetabolites, Antineoplastic; 0 / Keratolytic Agents; U3P01618RT / Fluorouracil
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23. ||........ 23%  Dereure O: [RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer]. Ann Dermatol Venereol; 2012 Aug-Sep;139(8-9):605-6
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [RHBDF2 mutations in familial palmoplantar keratoderma associated with tylosis oesophageal cancer].
  • [Transliterated title] Des mutations de RHBDF2 dans les kératodermies palmo-plantaires familiales associées au cancer de l'œsophage (tylose).
  • [MeSH-major] Esophageal Neoplasms / complications. Esophageal Neoplasms / genetics. Keratoderma, Palmoplantar, Diffuse / complications. Keratoderma, Palmoplantar, Diffuse / genetics. Membrane Proteins / genetics. Mutation

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  • (PMID = 22963978.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Journal Article
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Membrane Proteins
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24. ||........ 22%  Cao X, Yin J, Wang H, Zhao J, Zhang J, Dai L, Zhang J, Jiang H, Lin Z, Yang Y: Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type. J Invest Dermatol; 2014 Jan;134(1):284-7
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Mutation in AQP5, encoding aquaporin 5, causes palmoplantar keratoderma Bothnia type.
  • [MeSH-major] Aquaporin 5 / genetics. Asian Continental Ancestry Group / genetics. Keratoderma, Palmoplantar, Diffuse / genetics

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  • (PMID = 23867895.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Letter; Research Support, Non-U.S. Gov't
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / AQP5 protein, human; 0 / Aquaporin 5; Diffuse palmoplantar keratoderma, Bothnian type
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25. ||........ 20%  Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Keratoderma Diffuse': Top Publications. BioMedLib Review; QualitativeConcept;KeratodermaDiffuse:707176777. ISSN: 2331-5717. 2014/9/6
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  • [Title] 'Qualitative Concepts' associated with 'Keratoderma Diffuse': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'keratoderma diffuse'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 27 publications, and group two 262 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Diseases or Syndromes' associated with 'Keratoderma Diffuse': Top Publications.
  • Ghosh S et al: Tuberculosis verrucosa cutis presenting as diffuse plantar keratoderma: an unusual sight.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Engin H et al: Non-small-cell lung cancer with nonfamilial diffuse palmoplantar keratoderma.
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Smith CH et al: Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 707176777.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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26. ||........ 19%  Ke HP, Jiang HL, Lv YS, Huang YZ, Liu RR, Chen XL, Du ZF, Luo YQ, Xu CM, Fan QH, Zhang XN: KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma. Gene; 2014 Aug 1;546(1):124-8
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] KRT9 gene mutation as a reliable indicator in the prenatal molecular diagnosis of epidermolytic palmoplantar keratoderma.
  • Epidermolytic palmoplantar keratoderma (EPPK) is the most frequent form of such keratodermas.
  • It is inherited in an autosomal dominant pattern and is clinically characterized by diffuse yellowish thickening of the skin on the palms and soles with erythematous borders during the first weeks or months after birth.
  • [MeSH-major] Fetal Diseases / genetics. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / diagnosis. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation

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  • [Copyright] Copyright © 2014 Elsevier B.V. All rights reserved.
  • (PMID = 24862219.001).
  • [ISSN] 1879-0038
  • [Journal-full-title] Gene
  • [ISO-abbreviation] Gene
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] Netherlands
  • [Chemical-registry-number] 0 / KRT9 protein, human; 0 / Keratin-9
  • [Keywords] NOTNLM ; Amniocentesis / Epidermolytic palmoplantar keratoderma / KRT9 gene / Mutation / Prenatal genetic diagnosis
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27. ||........ 18%  Du ZF, Wei W, Wang YF, Chen XL, Chen CY, Liu WT, Lu JJ, Mao LG, Xu CM, Fang H, Zhang XN: A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly. Eur J Dermatol; 2011 Sep-Oct;21(5):675-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A novel mutation within the 2B rod domain of keratin 9 in a Chinese pedigree with epidermolytic palmoplantar keratoderma combined with knuckle pads and camptodactyly.
  • To the best of our knowledge, all reported cases of epidermolytic palmoplantar keratoderma (EPPK) with knuckle pads have been without accompanying camptodactyly.
  • All the EPPK-affected individuals in this southern Chinese pedigree suffered severe diffuse palmar and plantar hyperkeratosis including hyperhidrosis and cuticle splitting: 3 females presented EPPK only, 8 adult males had notably severe knuckle pads and camptodactyly as well as EPPK, and one 6-year-old boy manifested EPPK with knuckle pads.
  • [MeSH-major] Abnormalities, Multiple / genetics. Fingers / abnormalities. Hand Deformities, Congenital / genetics. Keratin-9 / genetics. Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation, Missense

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
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  • [CommentIn] Eur J Dermatol. 2011 Sep-Oct;21(5):659 [21700536.001]
  • (PMID = 21715251.001).
  • [ISSN] 1167-1122
  • [Journal-full-title] European journal of dermatology : EJD
  • [ISO-abbreviation] Eur J Dermatol
  • [Language] eng
  • [Publication-type] Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Keratin-9
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28. ||........ 17%  Cooper IF, Siadaty MS: 'Diseases or Syndromes' associated with 'Keratoderma Diffuse': Top Publications. BioMedLib Review; DiseaseOrSyndrome;KeratodermaDiffuse:706365584. ISSN: 2331-5717. 2014/10/26
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  • [Title] 'Diseases or Syndromes' associated with 'Keratoderma Diffuse': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Disease or Syndrome' for 'keratoderma diffuse'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Disease or Syndrome'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 238 publications.
  • Here are the top 10.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Ghosh S et al: Tuberculosis verrucosa cutis presenting as diffuse plantar keratoderma: an unusual sight.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Smith CH et al: Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma.
  • Madan V et al: Tyrosinaemia type II with diffuse plantar keratoderma and self-mutilation.
  • Urbańska-Ryś H et al: Multiple myeloma in a patient with systemic lupus erythematosus, myasthenia gravis and non-familial diffuse palmoplantar keratoderma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706365584.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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29. ||........ 17%  Cooper IF, Siadaty MS: 'Congenital Abnormalities' associated with 'Keratoderma Diffuse': Top Publications. BioMedLib Review; CongenitalAbnormality;KeratodermaDiffuse:707091485. ISSN: 2331-5717. 2014/12/5
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  • [Title] 'Congenital Abnormalities' associated with 'Keratoderma Diffuse': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Congenital Abnormality' for 'keratoderma diffuse'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Congenital Abnormality'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 24 publications, and group two 231 publications.
  • Here are the top 10.
  • Coonar AS et al: Gene for arrhythmogenic right ventricular cardiomyopathy with diffuse nonepidermolytic palmoplantar keratoderma and woolly hair (Naxos disease) maps to 17q21.
  • Ghosh S et al: Tuberculosis verrucosa cutis presenting as diffuse plantar keratoderma: an unusual sight.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Blaydon DC et al: Mutations in AQP5, encoding a water-channel protein, cause autosomal-dominant diffuse nonepidermolytic palmoplantar keratoderma.
  • Sun X et al: [Hotspot of the mutations of keratin 9 gene in a diffuse palmoplantar keratoderma family].
  • Richardson ES et al: A novel mutation and large size polymorphism affecting the V2 domain of keratin 1 in an African-American family with severe, diffuse palmoplantar keratoderma of the ichthyosis hystrix Curth-Macklin type.
  • Koumantaki E et al: What is your diagnosis? Diffuse nonepidermolytic palmoplantar keratoderma with woolly hair and cardiomyopathy (Naxos-Carvajal syndrome).
  • Khanna SK et al: Nonfamilial diffuse palmoplantar keratoderma associated with bronchial carcinoma.
  • Lind L et al: The gene for diffuse palmoplantar keratoderma of the type found in northern Sweden is localized to chromosome 12q11-q13.
  • Smith CH et al: Diffuse plane xanthomatosis and acquired palmoplantar keratoderma in association with myeloma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 707091485.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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30. ||........ 16%  ASGE Standards of Practice Committee, Evans JA, Early DS, Fukami N, Ben-Menachem T, Chandrasekhara V, Chathadi KV, Decker GA, Fanelli RD, Fisher DA, Foley KQ, Hwang JH, Jain R, Jue TL, Khan KM, Lightdale J, Malpas PM, Maple JT, Pasha SF, Saltzman JR, Sharaf RN, Shergill A, Dominitz JA, Cash BD, Standards of Practice Committee of the American Society for Gastrointestinal Endoscopy: The role of endoscopy in Barrett's esophagus and other premalignant conditions of the esophagus. Gastrointest Endosc; 2012 Dec;76(6):1087-94
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [MeSH-minor] Ablation Techniques. Burns, Chemical / pathology. Early Detection of Cancer. Esophageal Achalasia / pathology. Esophagectomy / methods. Esophagus / injuries. Humans. Keratoderma, Palmoplantar, Diffuse / pathology


31. |......... 13%  Stieler K, Blume-Peytavi U, Vogel A, Atugoda S: Hyperkeratoses as paraneoplastic syndrome. J Dtsch Dermatol Ges; 2012 Aug;10(8):593-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hyperkeratoses as paraneoplastic syndrome.
  • [MeSH-major] Acanthosis Nigricans / pathology. Foot Dermatoses / pathology. Hyperkeratosis, Epidermolytic / pathology. Keratoderma, Palmoplantar, Diffuse / pathology. Paraneoplastic Syndromes / pathology

  • ResearchGate. author profiles.
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  • (PMID = 22672236.001).
  • [ISSN] 1610-0387
  • [Journal-full-title] Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • [ISO-abbreviation] J Dtsch Dermatol Ges
  • [Language] eng; ger
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Germany
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32. |......... 11%  Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; QualitativeConcept;EpidermolyticPalmoplantarKeratodermas:706058182. ISSN: 2331-5717. 2014/7/22
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  • [Title] 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 175 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • Kelsell DP et al: Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Kelsell DP et al: Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.
  • Hennies HC et al: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
  • Covello SP et al: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
  • Zhang XN et al: [Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].
  • Hinterberger L et al: Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706058182.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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33. |......... 11%  Cooper IF, Siadaty MS: 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; QualitativeConcept;EpidermolyticPalmoplantarKeratodermas:706058181. ISSN: 2331-5717. 2014/3/22
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  • [Title] 'Qualitative Concepts' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Qualitative Concept' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Qualitative Concept'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 22 publications, and group two 175 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • Kelsell DP et al: Close mapping of the focal non-epidermolytic palmoplantar keratoderma (PPK) locus associated with oesophageal cancer (TOC).
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Kelsell DP et al: Genetic linkage studies in non-epidermolytic palmoplantar keratoderma: evidence for heterogeneity.
  • Hennies HC et al: Keratin 9 gene mutational heterogeneity in patients with epidermolytic palmoplantar keratoderma.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
  • Covello SP et al: Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.
  • Zhang XN et al: [Present status of the molecular genetics in epidermolytic palmoplantar keratoderma].
  • Hinterberger L et al: Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706058181.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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34. |......... 11%  Hinterberger L, Pföhler C, Vogt T, Müller CS: Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-). BMJ Case Rep; 2012;2012
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diffuse epidermolytic palmoplantar keratoderma (Unna-Thost-).

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  • (PMID = 23144341.001).
  • [ISSN] 1757-790X
  • [Journal-full-title] BMJ case reports
  • [ISO-abbreviation] BMJ Case Rep
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] England
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35. |......... 11%  Braun-Falco M: Hereditary palmoplantar keratodermas. J Dtsch Dermatol Ges; 2009 Nov;7(11):971-84; quiz 984-5
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hereditary palmoplantar keratodermas.
  • Hereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share impaired epidermal differentiation resulting in prominent palmoplantar hyperkeratosis.
  • Classically, keratodermas have been separated according to their clinical appearance into diffuse, focal, and as a feature of ectodermal dysplasias and many other syndromes.
  • Since molecular genetic analyses have helped characterize the underlying genetic defects in an increasing number of hereditary PPK over the last two decades, a pathophysiological separation seems more reasonable.
  • Depending on tissue distribution and location of mutation with a certain gene, the clinical spectrum of PPK range from a pure palmoplantar restricted skin abnormality to a complex combination of symptoms with dental anomalies, deafness, progressive cardiomyopathy and even cancer.
  • [MeSH-major] Keratoderma, Palmoplantar. Ointments / therapeutic use. Retinoids / therapeutic use

  • Genetics Home Reference. consumer health - palmoplantar keratoderma with deafness.
  • ExactAntigen/Labome. author profiles.
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  • (PMID = 19341430.001).
  • [ISSN] 1610-0387
  • [Journal-full-title] Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG
  • [ISO-abbreviation] J Dtsch Dermatol Ges
  • [Language] eng; ger
  • [Publication-type] Journal Article
  • [Publication-country] Germany
  • [Chemical-registry-number] 0 / Dermatologic Agents; 0 / Ointments; 0 / Retinoids
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36. |......... 11%  Kumar KV, Shaikh A, Sharma R, Bisht YS: Palmoplantar keratoderma with growth hormone deficiency. J Pediatr Endocrinol Metab; 2012;25(3-4):327-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Palmoplantar keratoderma with growth hormone deficiency.
  • Palmoplantar keratoderma (PPK) is a diverse group of disorders, characterized by thickening of the palms and soles, which are subdivided into focal or diffuse; it can be acquired or hereditary.
  • In this case report, we present monozygotic twin sisters with palmoplantar keratoderma and growth hormone deficiency.
  • [MeSH-major] Dwarfism / etiology. Human Growth Hormone / deficiency. Keratoderma, Palmoplantar / etiology


37. |......... 9%  Lee JY, In SI, Kim HJ, Jeong SY, Choung YH, Kim YC: Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26. J Korean Med Sci; 2010 Oct;25(10):1539-42
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Hereditary palmoplantar keratoderma and deafness resulting from genetic mutation of Connexin 26.
  • A 3-yr-old Korean female and her mother presented to our clinic with diffuse hyperkeratosis of the palms and soles (May 3, 2007).
  • Skin biopsies from the soles of both patients demonstrated histopathological evidence of palmoplantar keratoderma.
  • The combination of congenital hearing loss and palmoplantar keratoderma, inherited as an autosomal dominant trait, led us to test for a mutation in the GJB2 gene in both patients.
  • In conclusion, the simultaneous occurrence of a GJB2 mutation in a mother and daughter suggests that R75W mutation cause autosomal dominant hearing loss presenting with palmoplantar keratoderma.
  • To the best of our knowledge, this is the first report of a GJB2 mutation associated with syndromic autosomal dominant hearing loss and palmoplantar keratoderma in a Korean family.
  • [MeSH-major] Connexins / genetics. Deafness / genetics. Keratoderma, Palmoplantar / genetics. Mutation


38. |......... 8%  Akasaka E, Nakano H, Nakano A, Toyomaki Y, Takiyoshi N, Rokunohe D, Nishikawa Y, Korekawa A, Matsuzaki Y, Mitsuhashi Y, Sawamura D: Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation. Br J Dermatol; 2011 Dec;165(6):1290-2
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Diffuse and focal palmoplantar keratoderma can be caused by a keratin 6c mutation.
  • The palmoplantar keratodermas (PPKs) are a large group of genodermatoses comprising nearly 60 genetically distinct diseases.
  • Focal PPK is one of the hallmarks of pachyonychia congenita, a rare autosomal dominant disorder resulting from mutations in the keratin genes KRT6A, KRT6B, KRT16 or KRT17.
  • We report here a novel KRT6C mutation identified in a Japanese family with PPK with phenotypic heterogeneity, presenting with not only focal but also diffuse hyperkeratosis.
  • The proband had diffuse hyperkeratosis on the soles and small focal hyperkeratoses on the palms, while the two other affected individuals showed focal hyperkeratoses on the soles.
  • These findings strongly suggest that screening of patients with nonepidermolytic diffuse PPK, in whom the pathogenic mutations are yet to be determined, might identify mutations in KRT6C.
  • [MeSH-major] Foot Dermatoses / genetics. Hand Dermatoses / genetics. Keratin-6 / genetics. Keratoderma, Palmoplantar / genetics. Mutation / genetics


39. |......... 8%  Guo Y, Shi M, Tan ZP, Shi XL: Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9. Genet Mol Res; 2014;13(4):8089-93
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Possible anticipation in familial epidermolytic palmoplantar keratoderma with the p.R163W mutation of Keratin 9.
  • Epidermolytic palmoplantar keratoderma (EPPK) is an autosomal dominant disease characterized by diffuse hyperkeratosis of the epidermis of the palm and sole with an erythematous margin.

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  • (PMID = 25299193.001).
  • [ISSN] 1676-5680
  • [Journal-full-title] Genetics and molecular research : GMR
  • [ISO-abbreviation] Genet. Mol. Res.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] Brazil
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40. |......... 8%  Dereure O: [The perennial problem of keratinisation disorders]. Ann Dermatol Venereol; 2013 Mar;140(3):240-1
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Transliterated title] Troubles de la kératinisation encore et toujours.
  • [MeSH-major] Skin Diseases, Genetic / genetics
  • [MeSH-minor] Cations / metabolism. Connexins / deficiency. Connexins / genetics. Deafness / genetics. Deafness / pathology. Genes, Recessive. Humans. Ichthyosis / genetics. Ichthyosis / pathology. Ion Transport. Keratinocytes / metabolism. Keratinocytes / pathology. Keratins / metabolism. Keratitis / genetics. Keratitis / pathology. Keratoderma, Palmoplantar / genetics. Keratoderma, Palmoplantar / pathology. Keratoderma, Palmoplantar, Diffuse / genetics. Keratoderma, Palmoplantar, Diffuse / pathology. Mosaicism. Nevus / genetics. Porokeratosis / genetics. Sweat Gland Neoplasms / genetics. TRPV Cation Channels / deficiency. TRPV Cation Channels / genetics

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  • (PMID = 23466163.001).
  • [ISSN] 0151-9638
  • [Journal-full-title] Annales de dermatologie et de vénéréologie
  • [ISO-abbreviation] Ann Dermatol Venereol
  • [Language] fre
  • [Publication-type] Journal Article; Review
  • [Publication-country] France
  • [Chemical-registry-number] 0 / Cations; 0 / Connexins; 0 / TRPV Cation Channels; 0 / TRPV3 protein, human; 127120-53-0 / connexin 26; 68238-35-7 / Keratins; Keratitis, Ichthyosis, and Deafness (KID) Syndrome
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41. |......... 8%  Du ZF, Xu CM, Zhao Y, Liu WT, Chen XL, Chen CY, Fang H, Ke HP, Zhang XN: Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma. Eur J Dermatol; 2012 Jul-Aug;22(4):476-80
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Two novel de novo mutations of KRT6A and KRT16 genes in two Chinese pachyonychia congenita pedigrees with fissured tongue or diffuse plantar keratoderma.
  • BACKGROUND: Mutations in the KRT6A or KRT16 gene cause pachyonychia congenita type 1 (PC-1), while mutations in KRT16 or KRT6C underlie focal palmoplantar keratoderma (FPPK).
  • PC rarely presents the symptoms of diffuse plantar keratoderma.
  • OBJECTIVES: To investigate the genotype-phenotype correlations between clinical features and gene mutational sites in two unrelated southern Chinese PC pedigrees (one family presented with specific fissured tongue, the other with diffuse plantar keratoderma).
  • To confirm the effect of the IVS8-2A>C mutation in KRT6A at the mRNA level, total RNA from the plantar lesion of a patient was extracted and reverse-transcribed to cDNA for sequence analysis.
  • RESULTS: Two novel de novo mutations, a splice acceptor site variant IVS8-2A>C (p.S487FfsX72) in KRT6A and a heterozygous substitution c.AA373_374GG (p.N125G) within exon 1 of KRT16, were found separately in the two PC families.
  • [MeSH-major] Keratin-16 / genetics. Keratin-6 / genetics. Keratoderma, Palmoplantar / genetics. Mutation. Pachyonychia Congenita / genetics. Tongue, Fissured / genetics


42. |......... 7%  O'Toole A, O'Malley M: Unilateral keratoderma in a mother and her son. J Cutan Med Surg; 2012 Jul-Aug;16(4):288-90
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Unilateral keratoderma in a mother and her son.
  • BACKGROUND: Keratoderma is a group of conditions characterized by hyperkeratosis affecting the skin on the soles of the feet and palms of the hands bilaterally.
  • The classification of keratodermas depends on whether it is inherited or acquired and on its clinical features, including diffuse or focal involvement of the skin and the morphology of lesions present.
  • CASE REPORT: We describe the rare case of a 54-year-old female who presented with a nearly 40-year history of punctate keratoderma on her right palm and sole.
  • History taking revealed that her biologic son also has unilateral left-sided keratoderma.
  • The clinical presentation of unilateral keratoderma has been reported only four times in the literature.
  • [MeSH-major] Keratoderma, Palmoplantar / diagnosis

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  • (PMID = 22784524.001).
  • [ISSN] 1203-4754
  • [Journal-full-title] Journal of cutaneous medicine and surgery
  • [ISO-abbreviation] J Cutan Med Surg
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article
  • [Publication-country] Canada
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43. |......... 6%  Yeh JM, Yang MH, Chao SC: Collodion baby and loricrin keratoderma: a case report and mutation analysis. Clin Exp Dermatol; 2013 Mar;38(2):147-50
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Collodion baby and loricrin keratoderma: a case report and mutation analysis.
  • Hereditary palmoplantar keratodermas (PPK) comprise a clinically and genetically heterogeneous group of genodermatoses, which share the characteristic of impaired epidermal differentiation, resulting in prominent palmoplantar hyperkeratosis.
  • Molecular genetic analyses have helped characterize the underlying genetic defects in an increasing number of hereditary PPKs over the past two decades, and thus a pathophysiological classificaiton seems more reasonable.
  • In this report, we describe a 22-year-old man who had been born a collodion baby, and later developed diffuse PPK with pseudoainhum and generalized ichthyosis.
  • This family had the typical presentation of loricrin keratoderma.
  • It also indicates that collodion baby may be the first presentation in patients with loricrin keratoderma.
  • [MeSH-major] Ichthyosiform Erythroderma, Congenital / genetics. Keratoderma, Palmoplantar / genetics. Membrane Proteins / genetics. Mutation

  • Genetics Home Reference. consumer health - LOR Gene.
  • The Weizmann Institute of Science GeneCards and MalaCards databases. gene/protein/disease-specific - MalaCards for keratoderma .
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  • [Copyright] © The Author(s). CED © 2012 British Association of Dermatologists.
  • (PMID = 22831754.001).
  • [ISSN] 1365-2230
  • [Journal-full-title] Clinical and experimental dermatology
  • [ISO-abbreviation] Clin. Exp. Dermatol.
  • [Language] eng
  • [Publication-type] Case Reports; Journal Article; Research Support, Non-U.S. Gov't; Review
  • [Publication-country] England
  • [Chemical-registry-number] 0 / Membrane Proteins; 0 / loricrin
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44. |......... 5%  Mizuno O, Nomura T, Suzuki S, Takeda M, Ohguchi Y, Fujita Y, Nishie W, Sugiura K, Akiyama M, Shimizu H: Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis. Br J Dermatol; 2014 Oct;171(4):847-53
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Highly prevalent SERPINB7 founder mutation causes pseudodominant inheritance pattern in Nagashima-type palmoplantar keratosis.
  • BACKGROUND: Nagashima-type palmoplantar keratosis (NPPK) is a distinct autosomal recessive genodermatosis characterized by diffuse transgressive palmoplantar keratoderma (PPK).

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  • [Copyright] © 2014 British Association of Dermatologists.
  • (PMID = 24773080.001).
  • [ISSN] 1365-2133
  • [Journal-full-title] The British journal of dermatology
  • [ISO-abbreviation] Br. J. Dermatol.
  • [Language] eng
  • [Publication-type] Journal Article
  • [Publication-country] England
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45. |......... 5%  Cooper IF, Siadaty MS: 'Diseases or Syndromes' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; DiseaseOrSyndrome;EpidermolyticPalmoplantarKeratodermas:706569447. ISSN: 2331-5717. 2014/1/28
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  • [Title] 'Diseases or Syndromes' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Disease or Syndrome' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Disease or Syndrome'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 52 publications, and group two 142 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • High WA et al: Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women.
  • Terron-Kwiatkowski A et al: Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Liu WT et al: The most common mutation of KRT9, c.C487T (p.R163W), in epidermolytic palmoplantar keratoderma in two large Chinese pedigrees.
  • Swann MH et al: Localized epidermolytic hyperkeratosis of the female external genitalia.
  • Oiso N et al: Focal palmoplantar keratoderma with epidermolytic degeneration.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.
  • Morais P et al: Epidermolytic hyperkeratosis with palmoplantar keratoderma in a patient with KRT10 mutation.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706569447.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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46. |......... 5%  Cooper IF, Siadaty MS: 'Congenital Abnormalities' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications. BioMedLib Review; CongenitalAbnormality;EpidermolyticPalmoplantarKeratodermas:706568957. ISSN: 2331-5717. 2014/1/28
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  • [Title] 'Congenital Abnormalities' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • [Transliterated title]
  • Background: There are articles published each month which present 'Congenital Abnormality' for 'epidermolytic palmoplantar keratodermas'.
  • Finding such articles is important for researchers, clinicians, and patients.
  • However these articles are spread across thousands of journals, and there are many types of 'Congenital Abnormality'.
  • This makes searching and locating the relevant publications a challenge.
  • We have used BioMedLib's semantic search technology to address the issue, and gathered all the pertinent publications in this review article.
  • Methods: We categorized the publications we found into two groups.
  • We used the strength of textual-association to separate the groups.
  • In group one there are publications with the strongest evidence of association. We focused finding the most relevant publications pertinent to our goal, rather than combining them into a conclusion section. Such textual synthesis will be the focus of our next project.
  • Results: Group one includes 53 publications, and group two 138 publications.
  • Here are the top 10.
  • Cooper IF et al: 'Steroids' associated with 'Epidermolytic Palmoplantar Keratodermas': Top Publications.
  • High WA et al: Localized epidermolytic hyperkeratosis of the female genitalia: a case report and review of an underappreciated disorder of women.
  • Das A et al: Diffuse non-epidermolytic palmoplantar keratoderma.
  • Shimomura Y et al: Mutations in the keratin 9 gene in Pakistani families with epidermolytic palmoplantar keratoderma.
  • Terron-Kwiatkowski A et al: Mutation S233L in the 1B domain of keratin 1 causes epidermolytic palmoplantar keratoderma with "tonotubular" keratin.
  • Hatsell SJ et al: Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds.
  • Swann MH et al: Localized epidermolytic hyperkeratosis of the female external genitalia.
  • Oiso N et al: Focal palmoplantar keratoderma with epidermolytic degeneration.
  • Sehgal VN et al: Hereditary palmoplantar (epidermolytic) keratoderma: illustration through a familial report.
  • Bergman R et al: A unique pattern of dyskeratosis characterizes epidermolytic hyperkeratosis and epidermolytic palmoplantar keratoderma.

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  • [Copyright] Copyright 2014 Siadaty and Cooper; licensee BioMedLib LLC.
  • (UID = 706568957.001).
  • [ISSN] 2331-5717
  • [Journal-full-title] BioMedLib Review
  • [Language] eng
  • [Publication-type] Review
  • [Publication-country] UNITED STATES
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47. |......... 5%  Bergman R, Hershkovitz D, Fuchs D, Indelman M, Gadot Y, Sprecher E: Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations. J Am Acad Dermatol; 2010 Jan;62(1):107-13
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Disadhesion of epidermal keratinocytes: a histologic clue to palmoplantar keratodermas caused by DSG1 mutations.
  • BACKGROUND: Recent developments in molecular genetics may lead to re-examination of the histopathology of inherited palmoplantar keratodermas (PPKs) based on more precise groupings of the various entities and syndromes.
  • METHODS: We studied the histopathology of 3 cases of keratosis palmoplantaris striata type I and one case of diffuse PPK, all associated with autosomal-dominant mutations in DSG1.
  • Our cases for comparison included 4 cases with Mal de Meleda PPK associated with autosomal-recessive SLURP1 mutations, one case with pachyonychia congenita type II PPK associated with an autosomal-dominant KRT17 mutation, and one case with focal PPK associated with an autosomal-dominant KRT16 mutation.
  • RESULTS: The distinguishing histopathological features of the 3 keratosis palmoplantaris striata type I cases and the diffuse PPK case associated with DSG1 mutation were: varying degrees of widening of the intercellular spaces and partial disadhesion of keratinocytes in the mid and upper epidermal spinous cell layers, often extending to the granular cell layer.
  • LIMITATIONS: There were a limited number of patients and control patients with hereditary PPKs.
  • [MeSH-major] Desmoglein 1 / genetics. Epidermis / pathology. Keratinocytes / pathology. Keratoderma, Palmoplantar / genetics. Keratoderma, Palmoplantar / pathology


48. |......... 5%  Tang X, Kang X, Sun M, Dili N, He Y, Wu X, Liu J, Wu W, Pu X: [Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Dec;26(6):615-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] [Mutation analysis of a Uighur family with epidermolytic palmoplantar keratoderma].
  • OBJECTIVE: To map and identify the disease gene for the epidermolytic palmoplantar keratoderma (EPPK) in a Uighur family of China.
  • The disease gene of the EPPK family is located between markers 17/TG/36620115 and D17S846.
  • CONCLUSION: The disease gene of the EPPK family is located on chromosome region 17q21.2.
  • The keratin 9 gene might not be the disease gene.
  • [MeSH-major] Keratoderma, Palmoplantar, Epidermolytic / genetics. Mutation

  • Genetic Alliance. consumer health - Palmoplantar Keratoderma.
  • Genetic Alliance. consumer health - Palmoplantar keratoderma, epidermolytic.
  • ExactAntigen/Labome. author profiles.
  • ResearchGate. author profiles.
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  • (PMID = 19953481.001).
  • [ISSN] 1003-9406
  • [Journal-full-title] Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics
  • [ISO-abbreviation] Zhonghua Yi Xue Yi Chuan Xue Za Zhi
  • [Language] chi
  • [Publication-type] English Abstract; Journal Article; Research Support, Non-U.S. Gov't
  • [Publication-country] China
  • [Chemical-registry-number] 0 / KRT1 protein, human; 0 / KRT9 protein, human; 0 / Keratin-1; 0 / Keratin-9
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49. |......... 5%  Kubo A: Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency. J Invest Dermatol; 2014 Aug;134(8):2076-9
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] Nagashima-type palmoplantar keratosis: a common Asian type caused by SERPINB7 protease inhibitor deficiency.
  • Nagashima-type palmoplantar keratosis (NPPK) is an autosomal recessive diffuse non-epidermolytic palmoplantar keratosis caused by mutations in SERPINB7, a member of the serine protease inhibitor superfamily.
  • Genetic studies suggest that NPPK is the most common palmoplantar keratosis in Japan, and probably Asia, but one that is extremely rare in Western countries.
  • In this issue, Yin et al. report a founder effect of a SERPINB7 mutation in Chinese populations.
  • [MeSH-major] Keratoderma, Palmoplantar / genetics. Mutation. Serpins / genetics

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  • [CommentOn] J Invest Dermatol. 2014 Aug;134(8):2269-72 [24514002.001]
  • (PMID = 25029323.001).
  • [ISSN] 1523-1747
  • [Journal-full-title] The Journal of investigative dermatology
  • [ISO-abbreviation] J. Invest. Dermatol.
  • [Language] eng
  • [Publication-type] Comment; Journal Article
  • [Publication-country] United States
  • [Chemical-registry-number] 0 / SERPINB7 protein, human; 0 / Serpins
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50. |......... 5%  Seirafi H, Khezri S, Morowati S, Kamyabhesari K, Mirzaeipour M, Khezri F: A new variant of Vohwinkel syndrome: a case report. Dermatol Online J; 2011;17(3):3
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  • [Source] The source of this record is MEDLINE®, a database of the U.S. National Library of Medicine.
  • [Title] A new variant of Vohwinkel syndrome: a case report.
  • Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness.
  • Here we report a mutilating and focal palmoplantar keratoderma in two siblings with congenital hypotrichosis and probably autosomal recessive inheritance that appears to be a new variant of Vohwinkel syndrome.
  • [MeSH-major] Genetic Variation. Hypotrichosis / genetics. Hypotrichosis / pathology. Keratoderma, Palmoplantar / genetics. Keratoderma, Palmoplantar / pathology


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