Literature DB >> 32147745

Diagnosis and Management of Inherited Palmoplantar Keratodermas.

Bjorn R Thomas, Edel A O'Toole.   

Abstract

Inherited monogenic palmoplantar keratodermas are a heterogeneous group of conditions characterised by persistent epidermal thickening of the palmoplantar skin. Palmoplantar keratodermas are grouped depending on the morphology of the keratoderma into diffuse, focal/striate or papular/punctate. Some palmoplantar keratodermas just affect the skin of the palms and soles and others have associated syndromic features which include changes in hair, teeth, nails, hearing loss or cardiomyopathy. Next generation sequencing has helped discover genes involved in many of these conditions and has led to reclassification of some palmoplantar keratodermas. In this review, we discuss the diagnostic features of palmoplantar keratodermas and management options.

Entities:  

Keywords:  genetic; inherited; keratin; palmoplantar; keratoderma

Mesh:

Year:  2020        PMID: 32147745      PMCID: PMC9128927          DOI: 10.2340/00015555-3430

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN: 0001-5555            Impact factor:   3.875


  108 in total

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Journal:  J Invest Dermatol       Date:  2018-02-01       Impact factor: 8.551

3.  A review of the clinical phenotype of 254 patients with genetically confirmed pachyonychia congenita.

Authors:  Mark J Eliason; Sancy A Leachman; Bing-jian Feng; Mary E Schwartz; C David Hansen
Journal:  J Am Acad Dermatol       Date:  2012-01-20       Impact factor: 11.527

Review 4.  Papillon-Lefèvre syndrome associated early onset periodontitis: a review and case study.

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5.  Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita.

Authors:  C Swartling; M Karlqvist; K Hymnelius; J Weis; A Vahlquist
Journal:  Br J Dermatol       Date:  2010-11       Impact factor: 9.302

6.  [Aquagenic palmoplantar keratoderma in children with cystic fibrosis].

Authors:  B Weil; E Chaillou; F Troussier; C Pelatan; M Chiffoleau; E Darviot; M-C Chevalier; L Martin; J-L Giniès
Journal:  Arch Pediatr       Date:  2013-11-05       Impact factor: 1.180

7.  New syndrome of hypotrichosis, striate palmoplantar keratoderma, acro-osteolysis and periodontitis not due to mutations in cathepsin C.

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Journal:  Br J Dermatol       Date:  2002-09       Impact factor: 9.302

8.  "Nagashima-type" keratosis as a novel entity in the palmoplantar keratoderma category.

Authors:  Kenji Kabashima; Jun-Ichi Sakabe; Yoko Yamada; Yoshiki Tokura
Journal:  Arch Dermatol       Date:  2008-03

9.  Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita patients.

Authors:  Robyn P Hickerson; Devin Leake; Lana N Pho; Sancy A Leachman; Roger L Kaspar
Journal:  J Dermatol Sci       Date:  2009-08-21       Impact factor: 4.563

Review 10.  Hereditary palmoplantar keratodermas. Part I. Non-syndromic palmoplantar keratodermas: classification, clinical and genetic features.

Authors:  L Guerra; M Castori; B Didona; D Castiglia; G Zambruno
Journal:  J Eur Acad Dermatol Venereol       Date:  2018-03-24       Impact factor: 6.166

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  2 in total

Review 1.  Molecular Genetics of Keratinization Disorders - What's New About Ichthyosis.

Authors:  Jouni Uitto; Leila Youssefian; Amir Hossein Saeidian; Hassan Vahidnezhad
Journal:  Acta Derm Venereol       Date:  2020-03-25       Impact factor: 3.875

2.  iRHOM2: A Regulator of Palmoplantar Biology, Inflammation, and Viral Susceptibility.

Authors:  Jennifer Chao-Chu; Stephen Murtough; Najwa Zaman; Daniel J Pennington; Diana C Blaydon; David P Kelsell
Journal:  J Invest Dermatol       Date:  2020-10-17       Impact factor: 8.551

  2 in total

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