Conflict of interest: none declared.
Clinical Dermatology ● Concise Report
X-linked dominant protoporphyria: a new porphyria
Article first published online: 17 OCT 2013
© 2013 British Association of Dermatologists
Clinical and Experimental Dermatology
Volume 39, Issue 1, pages 35–37, January 2014
How to Cite
Seager, M. J., Whatley, S. D., Anstey, A. V. and Millard, T. P. (2014), X-linked dominant protoporphyria: a new porphyria. Clinical and Experimental Dermatology, 39: 35–37. doi: 10.1111/ced.12202
- Issue published online: 17 DEC 2013
- Article first published online: 17 OCT 2013
- Manuscript Accepted: 10 MAR 2013
Vol. 40, Issue 5, 591, Article first published online: 12 JUN 2015
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.