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ATYPICAL ERYTHROKERATODERMA WITH DEAFNESS, PHYSICAL RETARDATION AND PERIPHERAL NEUROPATHY
Author(s) -
BEARE J MARTIN,
NEVIN N. C.,
FROGGATT P.,
KERNOHAN D. C.,
ALLEN INGRID V.
Publication year - 1972
Publication title -
british journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.304
H-Index - 179
eISSN - 1365-2133
pISSN - 0007-0963
DOI - 10.1111/j.1365-2133.1972.tb07415.x
Subject(s) - peripheral neuropathy , nerve conduction , medicine , girl , differential diagnosis , muscle biopsy , peripheral , pediatrics , audiology , dermatology , biopsy , pathology , surgery , psychology , endocrinology , diabetes mellitus , developmental psychology
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.