Gap junctions, which mediate rapid intercellular communication, consist of connexins, small transmembrane proteins that belong to a large family of proteins found throughout the species. Mutations in the GJB2 gene, encoding Connexin 26, can cause nonsyndromic autosomal recessive or dominant hearing loss with or without skin manifestations. A 3-yr-old Korean female and her mother presented to ou...

A 5-year-old caucasian boy, born of non-consanguineous parents, was referred to the dermatology department due palmar hiperlinearity and multiple 2-3 mm hyperkeratotic circular lesions in soles (Fig. 1). The remaining physical examination unremarkable. There a family history palmoplantar hyperkeratosis mother maternal grandfather. To spare child, punch skin biopsy taken from his mother. Patholo...

The inheritance of Olmsted syndrome that is a very rare congenital with transgredient palmoplantar keratoderma is distinguished by the presence of massive hyperkeratosis with fissured skin and periorificial chaps. It usually appears during the early life and mostly in male pateints. Herein we report a case of Olmsted syndrome which is associated with ichthyosis and somatic type of delusion duri...

Ectodermal dysplasias are conditions that present primary defects in two or more tissues of ectodermal origin and can be classified as hypohidrotic and hidrotic. Hidrotic ectodermal dysplasia or Clouston syndrome is an autosomal dominant genodermatosis and appears as a triad of clinical findings: palmoplantar keratoderma, nail dystrophy, and hypotrichosis. The hair is sparse and brittle. The na...

IL: interleukin PRP: pityriasis rubra pilaris TNF: tumor necrosis factor INTRODUCTION Pityriasis rubra pilaris (PRP) is a heterogeneous inflammatory skin disease characterized by follicular papules, orange palmoplantar keratoderma, and erythematous scaly patches with islands of skin sparing. Type II PRP is a rare, severe, chronic form of PRP presenting atypical features including long disease d...

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.

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....

Keratodermas encompass a wide spectrum of disorders of keratinization that may be acquired or hereditary. We present two cases of focal acral hyperkeratosis (FAH), a subtype of punctate palmoplantar keratoderma. We review the literature and attempt to clarify the confusing classification of the heritable punctate palmoplantar keratodermas.