Photosensitivity in the elderly-think of late-onset protoporphyria

J Invest Dermatol. 2013 Jun;133(6):1467-71. doi: 10.1038/jid.2013.80.

Abstract

Photosensitivity is the clinical hallmark of both erythropoietic protoporphyria (EPP) and X-linked dominant protoporphyria (XLDPP). Both disorders result from a hereditary dysfunction in heme biosynthesis. Disease onset is usually in early childhood. However, rare patients with late-onset EPP in association with a myeloproliferative disorder or myelodysplastic syndrome have been reported. In this issue, Livideanu et al. describe the first patient with late-onset XLDPP.

Publication types

  • Comment

MeSH terms

  • 5-Aminolevulinate Synthetase / deficiency
  • 5-Aminolevulinate Synthetase / genetics*
  • Female
  • Genetic Diseases, X-Linked / genetics*
  • Humans
  • Male
  • Photosensitivity Disorders / genetics*
  • Protoporphyria, Erythropoietic / genetics*

Substances

  • 5-Aminolevulinate Synthetase
  • ALAS2 protein, human

Supplementary concepts

  • Protoporphyria, Erythropoietic, X-Linked Dominant