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.

journal_name

Clin Exp Dermatol

authors

Remenyik E,Lecha M,Badenas C,Kószó F,Vass V,Herrero C,Varga V,Emri G,Balogh A,Horkay I

doi

10.1111/j.1365-2230.2008.02734.x

subject

Has Abstract

pub_date

2008-08-01 00:00:00

pages

602-5

issue

5

eissn

0307-6938

issn

1365-2230

pii

CED2734

journal_volume

33

pub_type

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