Diffuse palmoplantar keratoderma with deafness

Abstract

Two brothers with diffuse palmoplantar keratoderma (Thost-Unna type) also were deaf. Of the 38 members of the patients' family, five had a similar disorder and ten had only hearing loss. The mode of inheritance of the dermatosis is regarded as autosomal dominant and is diagnostically distinguished from the other dermatoses associated with the disturbance of keratinization and deafness. To our knowledge, this is the second report of diffuse palmoplantar keratoderma (Thost-Unna type) with deafness, which is considered to be a new variant of the keratodermatoses.

Mitochondrial DNA pathogenic mutations in multiple symmetric lipomatosis

“…Our patient also showed hands hyperkeratosis mainly in the palms. This sign was also found in four pedigrees, harboring the m.7445A>G mutation that affects the processing of tRNA Ser showing hyperkeratosis as a sign of a keratoderma palmoplantar and deafness syndrome . Hyperkeratosis was also described in a patient with MELAS syndrome harboring an m.3243A>G mutation in the tRNA Leu .…”

Inherited palmoplantar keratoderma and sensorineural deafness associated with A7445G point mutation in the mitochondrial genome

“…Bititci and Hatamochi et al . both hypothesized autosomal dominant inheritance 25,27 . Both sexes were affected and incomplete penetrance was observed, more often in the family reported by Hatamochi et al .…”

Mitochondrial A7445G mutation in two pedigrees with palmoplantar keratoderma and deafness

“…In the latter pedigree, a biopsy demonstrated marked hyperkeratosis, increased thickness of the granular layer and moderate acanthosis of the epidermis without epidermolytic changes [Hatamochi et al, 1982]. Less frequent abnormalities observed in the New Zealand pedigree included epidermal naevus, ichthyosis and cholesteatoma.…”

“…Palmoplantar keratoderma affecting mainly the plantar surfaces was the skin abnormality most commonly seen in the New Zealand pedigree and was the only skin condition previously reported in the Japanese pedigree [Hatamochi et al, 1982]. In the latter pedigree, a biopsy demonstrated marked hyperkeratosis, increased thickness of the granular layer and moderate acanthosis of the epidermis without epidermolytic changes [Hatamochi et al, 1982].…”