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July 26, 1976

Tyrosine-Induced Eye and Skin LesionsA Treatable Genetic Disease

Author Affiliations

From the Division of Dermatology (Dr Goldsmith) and the Department of Ophthalmology (Dr Reed), Duke Medical Center, Durham, NC.

JAMA. 1976;236(4):382-384. doi:10.1001/jama.1976.03270040038027

Tyrosine-induced eye and skin lesions in man are an autosomal, recessive, inherited syndrome associated with tyrosinemia, tyrosinuria, and increased urinary excretion of tyrosine metabolites. Patients have mild to severe keratitis and erosive and hyperkeratotic lesions on the palms and soles. The degree of involvement was variable in the small number of patients studied. Mental retardation is frequently a part of the syndrome. A low-tyrosine low-phenylalanine diet lowers blood tyrosine level and leads to healing of the skin and eye lesions. Early dietary treatment may prevent mental retardation.

(JAMA 236:382-384, 1976)