[Palmoplantar keratosis associated with keratitis: hereditary hypertyrosinemia treated by diet].

Abstract

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.

• Authors: H Ogier, F Hervé, J M Saudubray, J L Dufier, C Charpentier, F Lemonnier, J L Moreno, J Frezal
• Journal: Annales de medecine interne (Ann Med Interne (Paris)) Vol. 137 Issue 2 Pg. 129-32 ( 1986) ISSN: 0003-410X [Print] France
• Vernacular Title: Kératose palmo-plantaire associée à une kératite: hypertyrosinémie héréditaire (type II) curable par le régime.
• PMID: 2940955 (Publication Type: Case Reports, English Abstract, Journal Article)

Chemical References

• Tyrosine

Topics

• Adolescent
• Amino Acid Metabolism, Inborn Errors (complications, diagnosis, diet therapy)
• Child, Preschool
• Female
• Humans
• Keratitis (etiology)
• Keratoderma, Palmoplantar (etiology)
• Time Factors
• Tyrosine (blood, metabolism)