title: Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene.
abstract: Three children (two boys and one girl) from the same family presented with photosensitivity, hyperpigmentation, hypertrichosis, mild skin fragility, blistering and scarring in childhood. On examination, the cutaneous lesions were found to have improved since their previous examinations. Laboratory tests showed raised plasma and urine carboxyporphyrins and decreased uroporphyrinogen decarboxylase enzyme activity in red blood cells. Triggering factors for porphyria were not detected except for a hepatitis C virus infection in the younger boy. The girl's clinical symptoms recurred in late adolescence, after iron and oestrogen treatments. Mutation analysis of the UROD gene detected two missense mutations, 19 A-->G M1V (novel) and 703C-->T P235S (previously reported), in an uncommon compound heterozygous manner in the three siblings.
authors.affiliation: Department of Dermatology, Medicaland Health Science Center, University of Debrecen, Debrecen, Hungary. remenyik@dote.hu
authors.forename: E
authors.initials: E
authors.lastname: Remenyik
authors.forename: M
authors.initials: M
authors.lastname: Lecha
authors.forename: C
authors.initials: C
authors.lastname: Badenas
authors.forename: F
authors.initials: F
authors.lastname: Kószó
authors.forename: V
authors.initials: V
authors.lastname: Vass
authors.forename: C
authors.initials: C
authors.lastname: Herrero
authors.forename: V
authors.initials: V
authors.lastname: Varga
authors.forename: G
authors.initials: G
authors.lastname: Emri
authors.forename: A
authors.initials: A
authors.lastname: Balogh
authors.forename: I
authors.initials: I
authors.lastname: Horkay
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D004252:DNA Mutational Analysis; D005260:Female; D006579:Heterozygote; D006801:Humans; D008297:Male; D020125:Mutation, Missense / Q000235:genetics*; D010375:Pedigree; D017119:Porphyria Cutanea Tarda / Q000201:enzymology*; D014575:Uroporphyrinogen Decarboxylase / Q000235:genetics* / Q000378:metabolism
chemical_list: D014575:Uroporphyrinogen Decarboxylase