Hepatoerythropoietic porphyria in a woman with short stature and deformed hands

Am J Med Genet. 1992 Nov 1;44(4):496-9. doi: 10.1002/ajmg.1320440423.

Abstract

A 23-year-old woman from Honduras was diagnosed to have hepatoerythropoietic porphyria. She had photosensitive skin of early onset, hypertrichosis, and severe scleroderma-like lesions of the hands. Erythrocyte uroporphyrinogen decarboxylase activity was reduced to about 10% of the normal activity.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Body Height / genetics*
  • Female
  • Hand Deformities / complications
  • Hand Deformities / diagnostic imaging
  • Hand Deformities / genetics*
  • Humans
  • Porphyrias / complications
  • Porphyrias / genetics*
  • Radiography
  • Uroporphyrinogen Decarboxylase / genetics

Substances

  • Uroporphyrinogen Decarboxylase