Neonatal Erythroderma as a First Manifestation of Menkes Disease

被引：5

作者：

Galve, Javier ^{[1
]}

Vicente, Asuncion ^{[1
]}

Antonia Gonzalez-Ensenat, Maria ^{[1
]}

Perez-Duenas, Belen ^{[2
]}

Cusi, Victoria ^{[3
]}

Moller, Lisbeth Birk ^{[4
]}

Julia, Marc ^{[5
]}

Dominguez, Anna ^{[6
,7
]}

Ferrando, Juan ^{[5
]}

机构：

[1] Univ Barcelona, Dept Dermatol, Hosp St Joan de Deu, Esplugues 08950, Barcelona, Spain

[2] Univ Barcelona, Dept Neurol, Hosp St Joan de Deu, Esplugues 08950, Barcelona, Spain

[3] Univ Barcelona, Dept Pathol, Hosp St Joan de Deu, Esplugues 08950, Barcelona, Spain

[4] Kennedy Ctr, Ctrt Appl Human Mol Genet, Glostrup, Denmark

[5] Hosp Clin Barcelona, Dept Dermatol, Barcelona, Spain

[6] Univ Barcelona, Ctr Sci, Barcelona, Spain

[7] Univ Barcelona, Ctr Technol, Barcelona, Spain

来源：

PEDIATRICS | 2012年 / 130卷 / 01期

关键词：

Menkes disease; erythroderma; copper; kinky hair; KINKY HAIR DISEASE; CANDIDATE GENE; DIAGNOSIS; DELETIONS; THERAPY;

D O I：

10.1542/peds.2011-1558

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

Menkes disease is an X-linked recessive lethal multisystemic disorder of copper metabolism. Progressive neurodegeneration, connective tissue disturbances, and peculiar kinky hair are the main manifestations. The low serum copper and ceruloplasmin suggests the diagnosis, which is confirmed by mutation analysis of the ATP7A gene. We report an exceptional presentation of classic Menkes disease with neonatal erythroderma. Genetic study revealed a deletion in exons 8 to 12 in the ATP7A gene. This study could allow pediatricians and pediatric dermatologists to diagnose the disorder as early as possible to establish prompt treatment with parenteral copper-histidine supplementation to improve prognosis. Pediatrics 2012; 130: e239-e242

引用

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页码：E239 / E242

页数：4

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