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...

A 51-year-old man reported with progressive thickening of the skin of the hands and feet since the age of 6yrs. It was largely asymptoma c; however, brisk walking caused excessive swea ng, pain, and widening of the fissures on the soles of the feet. He also had scaly raised lesions on legs and knees. His mother, maternal aunt, cousin and nephew had similar lesions. Examination of the soles of f...

A 49-year-old man electively chose to undergo a trial of intravenous chemotherapy with 5-fluorouracil (5-FU) for his inherited punctate palmoplantar keratoderma (PPK). His father also had this skin disorder, which coincidentally cleared after 2 courses of chemotherapy consisting of 5-FU and cisplatin to treat his lung cancer, prompting the patient to undergo this trial of therapy. After the pat...

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...

Punctate palmoplantar keratoderma type 1 (PPKP1, OMIM#148600), also known as the Buschke-FischerBraurer type, is a rare form of palmoplantar keratoderma that is autosomal dominantly inherited (1). PPKP1 is clinically characterised by multiple punctate hyperkeratotic papules affecting the palmar and plantar skin, with considerable phenotypic variation among patients (2). These circumscribed papu...

Papillon-Lefèvre Syndrome (PLS) is a rare autosomal recessive disorder first described by two French physicians, Papillon and Lefèvre in 1924. The disorder is characterized by diffuse palmoplantar keratoderma and precocious aggressively progressing periodontitis, leading to the premature loss of deciduous and permanent teeth at a very young age. The cutaneous lesions are usually manifested simu...

pachyonychia congenital (pc) is a rare autosomal dominant genodermatosis characterized hyperkeratosis affecting the nails and palmoplantar areas, oral leukokeratosis, and cystic lesions. a 39-year-old woman with pc type 1 (jadassohn-lewandowsky syndrome) and b-cell lymphoma is described. no similar disorders or parental consanguinity were found in her family. typical features of pc developed si...

Palmoplantar keratodermas (PPKs) are a large group of disorders characterized by hyperkeratosis of palms and soles. They can be classified by their mode of inheritance, the morphology and distribution of the hyperkeratosis (diffuse, focal or punctate), the involvement of other ectodermal structures, the presence or absence of associated nonectodermal features and the morphological findings at l...