X-linked dominant protoporphyria: a new porphyria

Autor:	A. V. Anstey, S. D. Whatley, T. P. Millard, M. J. Seager
Rok vydání:	2014
Předmět:	Genetics medicine.medical_specialty Adolescent Protoporphyria Erythropoietic Erythrocyte protoporphyrin business.industry Incidence (epidemiology) Protoporphyrins Genetic Diseases X-Linked Dermatology Newly diagnosed medicine.disease Pedigree Management strategy Liver disease Porphyria Mutation medicine Humans Female Erythropoietic protoporphyria business 5-Aminolevulinate Synthetase X-linked dominant
Zdroj:	Clinical and Experimental Dermatology. 39:35-37
ISSN:	1365-2230 0307-6938
DOI:	10.1111/ced.12202
Popis:	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.
Databáze:	OpenAIRE
Externí odkaz:	https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d027067de8241182a0d18e73dc5fb6aa https://doi.org/10.1111/ced.12202 Zobrazit plný text záznamu Plný text ve formátu PDF Plný text ve formátu HTML
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