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Pediatrics. 2012 Jul;130(1):e239-42. doi: 10.1542/peds.2011-1558. Epub 2012 Jun 18.

Neonatal erythroderma as a first manifestation of Menkes disease.

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1
Department of Dermatology, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.

Abstract

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.

PMID:
22711717
DOI:
10.1542/peds.2011-1558
[Indexed for MEDLINE]
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