Background Hereditary palmoplantar keratodermas (PPK) represent a heterogeneous group of rare skin disorders with epidermal hyperkeratosis the palms and soles, occasional additional manifestations in other tissues. Mutations at least 69 genes have been implicated PPK, but further novel candidate mutations are still to be found. Objectives To identify underlying PPK cohort 64 patients. Methods D...

Palmoplantar keratodermas (PPKs) represent a diverse group of hereditary and acquired disorders characterized by hyperkeratosis of the skin on the palms and soles [1]. The three major patterns of involvement are diffuse, focal and punctate. There are clinical distinguishing features for each disease in this group, for example, transmigration to areas beyond the palmoplantar skin. Also the exten...

Pachyonychia congenita is a rare type of ectodermal dysplasia further classified into 4 types. Cutaneous manifestations seen in most of the cases of Pachyonychia congenita include palmoplantar keratoderma, follicular hyperkeratosis, wedge shaped nails, oral leukokeratosis and woolly hair. A 25-year-old male presented to us with thickened nails and scanty scalp hair. On examination, we noticed h...

florid cutaneous papillomatosis (fcp), is a rare cutaneous marker of internal malignancy. the underlying cancer is usually intra-abdominal (most often gastric in origin), and evolves parallel to the fcp. there is a common association between fcp and the other two eruptive paraneoplastic syndromes, i.e.malignant acanthosis nigricans and the sign of leser-trelat. it seems possible that these synd...

Naxos disease is a recessively inherited condition with arrhythmogenic right ventricular dysplasia/cardiomyopathy (ARVD/C) and a cutaneous phenotype, characterised by peculiar woolly hair and palmoplantar keratoderma. The disease was first described in families originating from the Greek island of Naxos. Moreover, affected families have been identified in other Aegean islands, Turkey, Israel an...

A steadily growing number of hereditary palmoplantar keratodermas (PPKs) have been found to result from defective function epidermal adhesion proteins such as desmoglein 1 (DSG1), a critical component desmosomes which has implicated in the pathogenesis striate, diffuse and focal PPKs. Here we aimed at delineating genetic basis novel dominant form PPK. We studied three patients two families diag...

Mal de Meleda (MDM) is a rare form of recessive transgressive palmoplantar erythrokeratoderma for which mutations in the ARS gene have been identified recently. The ARS gene encodes SLURP-1, a secreted epidermal neuromodulator involved in epidermal homeostasis and inhibition of tumor necrosis factor-alpha release. A 27-year-old Taiwanese woman who had a history of palmoplantar keratoderma since...