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Dermatology and clinical genetics joint session

G90 A NOVEL AUTOSOMAL DOMINANT GJB2 MUTATION MANIFESTING AS HEARING IMPAIRMENT AND PALMOPLANTAR KERATODERMA
S. M. Kirke¹, C. S. Munro², A. M. Taylor¹.¹Department of Dermatology, Royal Victoria Infirmary, Newcastle upon Tyne, UK; ²Department of Dermatology, Southern General Hospital, Glasgow, UK

Proband: A profoundly deaf 9 year old boy of non-consanguineous parents was referred to dermatology outpatients with odd toenails. Examination revealed pitted dystrophy affecting all fingernails and most of toenails. No hyperkeratosis of nails was present. Transgradiens, diffuse, well-demarcated keratoderma involved the feet and was less marked on the hands. Brain stem evoked response audiometry performed at 2 months of age failed to elicit any response at 100 decibels and profound hearing loss was diagnosed. His 39 year old father who was profoundly deaf from birth had a mild palmar/plantar keratoderma while his 36 year old mother, also profoundly deaf, had normal skin. His 12 year old sister had normal hearing and normal skin. This patient’s keratoderma improved with the . . . [Full text of this article]