Pachyonychia congenita (PC) is a rare keratinizing disorder characterized by painful palmoplantar keratoderma (PPK), thickened nails and blistering for which there are no standard current treatment. PC caused dominant mutations in keratin 6A, 6B, 6C, 16 17 genes involved stress, wound healing epidermal barrier formation. Mechanisms leading to pain PPK remain elusive. To gain further insight int...

We present a case of a 48-year-old man with an approximately 30-year history of spiny projections on the palms, which were histopathologically consistent with spiny keratoderma. Spiny keratoderma is a rare entity of unknown etiology that has been described with both hereditary and acquired variants. The hereditary form, which is most likely the diagnosis in our patient, manifests at a younger a...

BACKGROUND An autosomal dominant form of diffuse non-epidermolytic palmoplantar keratoderma, palmoplantar keratoderma of Bothnian type, is caused by mutations in the AQP5 gene encoding the cell-membrane water channel protein aquaporin 5 leading to defective epidermal-water-barrier function in the epidermis of the palms and soles. CASE PRESENTATION We report the first Danish family diagnosed w...

We report on a 22-year-old male patient and his father, both presenting with congenital sensorineural deafness, diffuse palmoplantar keratoderma and knuckle pads. These findings are similar to those previously described in the Bart-Pumphrey syndrome, a rare autosomal dominant disorder. Several conditions including keratoderma and deafness are briefly reviewed.

Christ-Siemens-Touraine syndrome is a form of anhidrotic ectodermal dysplasia (ED) characterized by triad of hypodontia, hypotrichosis, and hypohidrosis. Palmoplantar keratoderma is a characteristic feature of hidrotic forms of ED. Till date, only two cases have been reported of Christ-Siemens-Touraine syndrome with palmoplantar keratoderma; here we report a similar case emphasizing this rare a...

Pachyonychia congenita type II is an autosomal dominant inherited rare genodermatosis characterized by dystrophic wedge shaped thickened nails with subungual hyperkeratosis, symmetric palmoplantar keratoderma, steatocystoma multiplex. Here we report a 23-year-old male with characteristic features of dystrophic nails, palmoplantar keratoderma, steatocystoma multiplex, follicular hyperkeratotic p...

Mal de meleda (Keratoderma plamoplantaris transgrediens) is a rare autosomal recessive form of palmoplantar keratoderma with hyperkeratosis of palms and soles, which appears soon after birth and progressively involves other areas (Transgrediens) of the skin especially dorsal aspects of hands and feet. We report a 20-year-old woman with mal de meleda with some unusual clinical features, i....