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Article

Two brothers with mild congenital erythropoietic porphyria due to a novel genotype.

Archives of dermatology - 1 Dec 2005

Berry Ali A, Desnick Robert J, Astrin Kenneth H, Shabbeer Junard, Lucky Anne W, Lim Henry W

Abstract excerpt

BACKGROUND: Congenital erythropoietic porphyria (CEP) is a rare autosomal recessive disease caused by the deficient activity of the heme biosynthetic enzyme, uroporphyrinogen III synthase (URO-synthase), and the accumulation of the nonphysiologic and phototoxic porphyrin I isomers. Clinical manifestations range from severe mutilation to mild erosions and blisters on sun-exposed areas. Evaluation of the...

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PMID: 16365260
DOI: 10.1001/archderm.141.12.1575

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

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