Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations.

Abstract

A family is presented with autosomal dominant progressive palmoplantar hyperkeratosis, which is invariably associated with a slowly progressive, bilateral, high frequency, sensorineural hearing loss. The family show no other ectodermal abnormality. The differential diagnosis and possible mechanisms are discussed. This family appears to represent a unique variant in the hyperkeratosis-deafness association.The association between hearing loss and various dermatological conditions has been well described.' The combination of sensorineural hearing loss (SNHL) and palmoplantar hyperkeratosis has also been recognised.26 However, previous reports include evidence of widespread ectodermal dysplasia (pili torti, dental anomalies, alopecia, nail dystrophy), or a variable relationship between the inheritance of skin changes and hearing loss. We present a family with characteristic, progressive palmoplantar hyperkeratosis invariably associated with a progressive, high frequency, sensorineural hearing loss, but without evidence of other ectodermal abnormality.Family history The 4 year old proband presented at 18 months of age with a suspected hearing loss. The initial impression was one of serous otitis media. Subsequent audiometric assessment confirmed a bilateral, high frequency SNHL,

Connexins: a connection with the skin

“…Prominent candidates were non-epidermolytic PPK, a heterogeneous group of disorders known to segregate with hearing loss in extended autosomal dominant pedigrees as well as in sporadic cases. However, the clinical presentation and age of onset of both clinical components vary considerably between different families (117)(118)(119)(120)(121)(122). Best recognized is keratoderma hereditaria mutilans associated with moderate hearing loss as originally described by Vohwinkel (VS) (123).…”

Deafness, palmoplantar hyperkeratosis, and knuckle pads with male-to-male transmission: Bart-Pumphrey syndrome

“…An association of hereditary deafness with several dermatologic conditions, including palmoplantar hyperkeratosis, has been previously reported (Blanchet-Bardot et al, 1987;Fitzgerald and Verbov, 1996;Sharland et al, 1992). The presence of both features in addition to knuckle pads was described in the condition designated as BartPumphrey syndrome, whose other major component is leukonychia (Bart and Pumphrey, 1967).…”

“…A form of palmoplantar keratoderma with deafness (PPKD) (MIM 148350) was described by Bititci (1975) in a Turkish family, and other cases with similar features were reported later on (Blanchet-Bardot et al, 1987;Fitzgerald and Verbov, 1996;Hatamochi et al, 1982;Sharland et al, 1992;Verbov, 1987). The clinical picture is defined as diffuse palmoplantar hyperkeratosis with onset in childhood, 130 Oliveira et al associated to late-onset, progressive bilateral sensorineural hearing loss.…”

Marginal Papular Acrokeratodermas: No Racial Limitations for a Clinical Spectrum That Responds to Acitretin

“…Furthermore the association of MPA with sensorineural hearing loss has no precedent in the international literature, as opposed to the familial diffuse palmoplantar keratodermas which have a recognized predisposition to sensorineural deafness [4, 5]. Apart from the race, the histological hallmark of FAH has been the absence of paucity or fragmentation of the dermal elastic fibres [2].…”