Literature DB >> 21426869

A new variant of Vohwinkel syndrome: a case report.

Hassan Seirafi1, Somayeh Khezri, Saeid Morowati, Kambiz Kamyabhesari, Mehdi Mirzaeipour, Farzaneh Khezri.   

Abstract

Vohwinkel syndrome (mutilating and diffuse palmoplantar keratoderma) is associated with various extracutaneous features including icthyosis and deafness. Its mode of inheritance is autosomal dominant with mutation in loricrin and Connexin 26 genes. 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.

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Year:  2011        PMID: 21426869

Source DB:  PubMed          Journal:  Dermatol Online J        ISSN: 1087-2108


  3 in total

1.  Suppressing AP1 factor signaling in the suprabasal epidermis produces a keratoderma phenotype.

Authors:  Ellen A Rorke; Gautam Adhikary; Christina A Young; Dennis R Roop; Richard L Eckert
Journal:  J Invest Dermatol       Date:  2014-08-22       Impact factor: 8.551

2.  Vohwinkel syndrome, ichthyosiform variant--by Camisa--case report.

Authors:  Liliam Dalla Corte; Mariana Vale Scribel da Silva; Carina Flores de Oliveira; Gerson Vetoratto; Raquel Bissacotti Steglich; Josiane Borges
Journal:  An Bras Dermatol       Date:  2013 Nov-Dec       Impact factor: 1.896

3.  Vohwinkel's Syndrome: A Rare Disorder of Keratinization.

Authors:  Nidhi Choudhary; Rahul Ahar; Abhishek De; Projna Biswas
Journal:  Indian J Dermatol       Date:  2014-11       Impact factor: 1.494

  3 in total

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