Case Reports
doi: 10.1111/ced.12202.
Epub 2013 Oct 17.
X-linked dominant protoporphyria: a new porphyria
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- PMID: 24131146
- DOI: 10.1111/ced.12202
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Case Reports
X-linked dominant protoporphyria: a new porphyria
Clin Exp Dermatol.
2014 Jan.
Erratum in
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Erratum.Clin Exp Dermatol. 2015 Jul;40(5):591. doi: 10.1111/ced.12640. Clin Exp Dermatol. 2015. PMID: 26095352 No abstract available.
Abstract
X-linked dominant protoporphyria (XLDPP) was first reported in the genetics literature in 2008. It has a phenotype very similar to erythropoietic protoporphyria (EPP), but is distinguished from EPP by higher concentrations of erythrocyte protoporphyrin (of which a high proportion is zinc-chelated), its apparently higher incidence of liver disease, and an X-linked dominant pattern of inheritance. Dermatologists should understand how XLDPP differs from EPP, in order to advise newly diagnosed patients correctly about the genetic implications and the long-term management strategy. We present a case series of XLDPP to introduce this condition to the dermatology literature.
© 2013 British Association of Dermatologists.
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