Richner-Hanhart syndrome: importance of early diagnosis and early intervention

J Am Acad Dermatol. 1996 Nov;35(5 Pt 2):857-9. doi: 10.1016/s0190-9622(96)90104-8.

Abstract

Fewer than 100 cases of Richner-Hanhart syndrome have been reported. We describe two additional patients who have the classic clinical, biochemical, and microscopic features of this syndrome.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Amino Acid Metabolism, Inborn Errors* / diagnosis
  • Amino Acid Metabolism, Inborn Errors* / therapy
  • Eye Diseases / diagnosis
  • Eye Diseases / therapy
  • Humans
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / therapy
  • Keratoderma, Palmoplantar* / diagnosis
  • Keratoderma, Palmoplantar* / therapy
  • Light / adverse effects
  • Male
  • Syndrome
  • Time Factors
  • Tyrosine Transaminase / deficiency*

Substances

  • Tyrosine Transaminase