These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Search MEDLINE/PubMed

  • Title: [Palmoplantar keratosis associated with keratitis: hereditary hypertyrosinemia treated by diet].
    Author: Ogier H, Hervé F, Saudubray JM, Dufier JL, Charpentier C, Lemonnier F, Moreno JL, Frezal J.
    Journal: Ann Med Interne (Paris); 1986; 137(2):129-32. PubMed ID: 2940955.
    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.
    [Abstract] [Full Text] [Related] [New Search]