title: X-linked dominant protoporphyria: a new porphyria.
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.
authors.affiliation: Department of Dermatology, Gloucestershire Royal Hospital, Gloucester, UK.
authors.forename: M J
authors.initials: MJ
authors.lastname: Seager
authors.forename: S D
authors.initials: SD
authors.lastname: Whatley
authors.forename: A V
authors.initials: AV
authors.lastname: Anstey
authors.forename: T P
authors.initials: TP
authors.lastname: Millard
mesh_terms: D000624:5-Aminolevulinate Synthetase / Q000172:deficiency* / Q000235:genetics; D000293:Adolescent; D005260:Female; D040181:Genetic Diseases, X-Linked / Q000175:diagnosis*; D006801:Humans; D009154:Mutation; D010375:Pedigree; D046351:Protoporphyria, Erythropoietic / Q000175:diagnosis*; D011524:Protoporphyrins / Q000097:blood
chemical_list: D011524:Protoporphyrins; D000624:5-Aminolevulinate Synthetase; C480079:ALAS2 protein, human