Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene

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

Research output: Contribution to journalArticle

6 Citations (Scopus)

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.

Original languageEnglish
Pages (from-to)602-605
Number of pages4
JournalClinical and Experimental Dermatology
Volume33
Issue number5
DOIs
Publication statusPublished - Sep 2008

Fingerprint

Uroporphyrinogen Decarboxylase
Porphyrias
Hypertrichosis
Skin
Hyperpigmentation
Mutation
Virus Diseases
Missense Mutation
Hepacivirus
Genes
Cicatrix
Siblings
Estrogens
Iron
Erythrocytes
Urine
Enzymes
Therapeutics

ASJC Scopus subject areas

  • Dermatology

Cite this

Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene. / Remenyik, E.; Lecha, M.; Badenas, C.; Kószó, F.; Vass, V.; Herrero, C.; Varga, V.; Emri, G.; Balogh, A.; Horkay, I.

In: Clinical and Experimental Dermatology, Vol. 33, No. 5, 09.2008, p. 602-605.

Research output: Contribution to journalArticle

Remenyik, E. ; Lecha, M. ; Badenas, C. ; Kószó, F. ; Vass, V. ; Herrero, C. ; Varga, V. ; Emri, G. ; Balogh, A. ; Horkay, I. / Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene. In: Clinical and Experimental Dermatology. 2008 ; Vol. 33, No. 5. pp. 602-605.
@article{ea7b04991be245b985878f36ae97604e,
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.",
author = "E. Remenyik and M. Lecha and C. Badenas and F. K{\'o}sz{\'o} and V. Vass and C. Herrero and V. Varga and G. Emri and A. Balogh and I. Horkay",
year = "2008",
month = "9",
doi = "10.1111/j.1365-2230.2008.02734.x",
language = "English",
volume = "33",
pages = "602--605",
journal = "Clinical and Experimental Dermatology",
issn = "0307-6938",
publisher = "Wiley-Blackwell",
number = "5",

}

TY - JOUR

T1 - Childhood-onset mild cutaneous porphyria with compound heterozygotic mutations in the uroporphyrinogen decarboxylase gene

AU - Remenyik, E.

AU - Lecha, M.

AU - Badenas, C.

AU - Kószó, F.

AU - Vass, V.

AU - Herrero, C.

AU - Varga, V.

AU - Emri, G.

AU - Balogh, A.

AU - Horkay, I.

PY - 2008/9

Y1 - 2008/9

N2 - 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.

AB - 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.

UR - http://www.scopus.com/inward/record.url?scp=49649122487&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=49649122487&partnerID=8YFLogxK

U2 - 10.1111/j.1365-2230.2008.02734.x

DO - 10.1111/j.1365-2230.2008.02734.x

M3 - Article

C2 - 18462440

AN - SCOPUS:49649122487

VL - 33

SP - 602

EP - 605

JO - Clinical and Experimental Dermatology

JF - Clinical and Experimental Dermatology

SN - 0307-6938

IS - 5

ER -