[Palmoplantar keratosis associated with keratitis: hereditary hypertyrosinemia treated by diet].
The authors report the cases of two unrelated children 16 and 5 years of age respectively, affected with hypertyrosinaemia type II. This condition is characterized by palmo-plantar hyperkeratosis associated with a herpetiform keratitis. The diagnosis is based on the finding of hypertyrosinaemia and hypertyrosyluria, and may be confirmed by their biopsy findings of a cytoplasmic tyrosine amino-transferase deficiency. It is a hereditary autosomal recessive disease. A low phenylalanine and tyrosine diet produced a spectacular improvement but the ocular complications could have been avoided by an earlier diagnosis.
D000293:Adolescent; D000592:Amino Acid Metabolism, Inborn Errors / Q000150:complications / Q000175:diagnosis / Q000178:diet therapy*; D002675:Child, Preschool; D005260:Female; D006801:Humans; D007634:Keratitis / Q000209:etiology*; D007645:Keratoderma, Palmoplantar / Q000209:etiology*; D013997:Time Factors; D014443:Tyrosine / Q000097:blood* / Q000378:metabolism
D014443:Tyrosine
Kératose palmo-plantaire associée à une kératite: hypertyrosinémie héréditaire (type II) curable par le régime.