ATYPICAL ERYTHROKERATODERMA WITH DEAFNESS, PHYSICAL RETARDATION AND PERIPHERAL NEUROPATHY

Abstract

Summary.— An atypical form of erythrokeratoderma variabilis, profound bilateral perceptive deafness, physical retardation, and specific neurological disturbances are described in a girl aged 8 from County Tyrone, Northern Ireland. The differential diagnosis is discussed and abnormal EMG, nerve conduction and muscle biopsy findings are described. The syndrome is considered to be due to a “dominant” mutant gene. Only one case with a similar constellation of findings has previously been described (Schnyder et al., 1968), although there are some differences in detail between the two.