Neonatal erythroderma as a first manifestation of Menkes disease

Javier Galve, Asunción Vicente, María Antonia González-Enseñat, Belén Pérez-Dueñas, Victoria Cusí, Lisbeth Birk Møller, Marc Julià, Anna Domínguez, Juan Ferrando

11 Citationer (Scopus)


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.
TidsskriftPediatrics (English Edition)
Udgave nummer1
Sider (fra-til)e239-42
StatusUdgivet - 2012


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