| Literature DB >> 23673504 |
Jorge Frank1, Pamela Poblete-Gutiérrez, Norbert J Neumann.
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.Entities:
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Year: 2013 PMID: 23673504 DOI: 10.1038/jid.2013.80
Source DB: PubMed Journal: J Invest Dermatol ISSN: 0022-202X Impact factor: 8.551