Autosomal dominant palmoplantar hyperkeratosis and sensorineural deafness in three generations

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...

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Veröffentlicht in:	Journal of medical genetics 1992-01, Vol.29 (1), p.50-52
Hauptverfasser:	Sharland, M, Bleach, N R, Goberdhan, P D, Patton, M A
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult Aged Biological and medical sciences Child, Preschool Complex syndromes deafness Deafness - complications Deafness - genetics Female Genes, Dominant Hearing Loss, High-Frequency - complications Hearing Loss, High-Frequency - genetics Hearing Loss, Sensorineural - complications Hearing Loss, Sensorineural - genetics Humans Keratoderma, Palmoplantar - complications Keratoderma, Palmoplantar - genetics Male Medical genetics Medical sciences Pedigree
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Beschreibung
Zusammenfassung:	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.
ISSN:	0022-2593 1468-6244 1468-6244
DOI:	10.1136/jmg.29.1.50