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PALMOPLANTAR KERATODERMA WITH NORMAL INTELLIGENCE IN TYROSINAEMIA II
Author(s) -
Danks David M.,
Callan Noel J.
Publication year - 1988
Publication title -
australasian journal of dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.67
H-Index - 53
eISSN - 1440-0960
pISSN - 0004-8380
DOI - 10.1111/j.1440-0960.1988.tb00374.x
Subject(s) - medicine , palmoplantar keratoderma , tyrosinemia , dermatology , pediatrics , hyperkeratosis , physics , nuclear magnetic resonance , tyrosine
S ummary A patient with tyrosinaemia type II presented early in childhood with palmoplantar keratoderma and interstitial keratitis. Diagnosis of the metabolic defect and dietary treatment led to prompt resolution of all lesions and she is now well and mentally normal at 21 years. The fact that mental retardation is not a constant, or even frequent, feature of this condition is emphasized.