836 © 2007 The Authors JEADV 2007, 21, 822–849 Journal compilation © 2007 European Academy of Dermatology and Venereology 5 Hesse S, Berbis P, Privat Y. Keratoderma palmoplantaris papulosa (Bushcke–Fischer’s disease): efficacy of acitretin. Br J Dermatol 1993; 128: 104–105. 6 Horikoshi M, Kuroda K, Tajima S. Puncate palmoplantar keratoderma with pigmentary lesions on the dorsa of feet and ankle...

OBJECTIVE Naxos disease is an autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. Carvajal syndrome is characterized by palmoplantar keratoderma, curly hair, dilated cardiomyopathy, especially on the left ventricle side, and early morbidity. The aim of this study was to evaluate th...

Olmsted syndrome (OS) is a rare congenital skin disorder characterized by severe palmoplantar and periorificial keratoderma, alopecia, onychodystrophy, and severe pruritus. Recently, pathogenic 'gain-of-function' mutations of the transient receptor potential vanilloid 3 gene (TRPV3), which encodes a cation channel involved in keratinocyte differentiation and proliferation, hair growth, inflamma...

Dominant GJB2 mutations are known to cause a syndromic form of sensorineural hearing loss associated with palmo-plantar skin manifestations. We present the genotype/phenotype correlations of a new GJB2 mutation identified in three generations of an Italian family (proband, mother and grandfather) whose members are affected by sensorineural hearing impairment associated with adult-onset palmopla...