Two Cases with Aquagenic Palmoplantar Keratoderma

Aquagenic Palmoplantar Keratoderma as a CFTR-related Disorder.

Aquagenic palmoplantar keratoderma with dorsal hand involvement in an adolescent female

Fig 1. Aquagenic palmoplantar keratoderma. Whitish cobblestonelike papules on bilateral palms. CASE REPORT Ahealthy 13-year-old Hispanic girl presentedwith a 3.5-year history of roughness of her hands on contact with water. She reported that her hands turned ‘‘white and raised’’ with immersion in water, but did not report any associated pruritus, burning sensation, or pain in her hands. She had...

Clouston Syndrome with Palmoplantar Keratoderma

Clouston syndrome (hidrotic ectodermal dysplasia) is characterized by the clinical triad of nail dystrophy, alopecia and palmoplantar hyperkeratosis. Clouston syndrome is transmitted as an autosomal dominant trait and caused by mutations in the GJB6 gene (13q12), encoding the gap junction protein connexin 30 (C × 30). At present, there is no treatment for the disease and management is purely su...

Autosomal recessive epidermolytic palmoplantar keratoderma.

Palmoplantar keratoderma (PPK) is a heterogeneous group of disorders. Epidermolytic PPK is a well delineated autosomal dominant entity, but no recessive form is known. Here we report two sons of phenotypically normal, consanguineous, Arab parents with features suggestive of PPK. They presented with patchy eczematous skin lesions followed by PPK and raised serum levels of IgE. Skin biopsy from t...

Watcher’s type of palmoplantar keratoderma

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...