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X‐linked dominant protoporphyria: a new porphyria
Author(s) -
Seager M. J.,
Whatley S. D.,
Anstey A. V.,
Millard T. P.
Publication year - 2014
Publication title -
clinical and experimental dermatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.587
H-Index - 78
eISSN - 1365-2230
pISSN - 0307-6938
DOI - 10.1111/ced.12202
Subject(s) - erythropoietic protoporphyria , porphyria , protoporphyrin , dermatology , phenotype , disease , medicine , incidence (geometry) , bloodletting , ferrochelatase , genetics , pathology , biology , heme , gene , biochemistry , alternative medicine , porphyrin , physics , optics , enzyme
Summary 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.