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Neonatal erythroderma as a first manifestation of Menkes disease

Javier Galve1, Asunción Vicente, María Antonia González-Enseñat

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

Pediatrics
|June 20, 2012
PubMed

Insights

Menkes disease, a copper metabolism disorder, typically presents with neurodegeneration and kinky hair. This study highlights an unusual neonatal erythroderma presentation, aiding earlier diagnosis and treatment for improved outcomes.

Area of Science:

  • Genetics
  • Biochemistry
  • Pediatrics

Background:

  • Menkes disease is a severe X-linked recessive disorder affecting copper metabolism.
  • Key features include neurodegeneration, connective tissue issues, and characteristic kinky hair.
  • Diagnosis relies on low serum copper/ceruloplasmin and ATP7A gene mutation analysis.

Observation:

  • This report details a rare case of classic Menkes disease presenting with neonatal erythroderma.
  • The patient exhibited an exceptional dermatological manifestation at birth.

Findings:

  • Genetic analysis identified a deletion in exons 8 to 12 of the ATP7A gene.
  • This specific mutation is linked to the observed Menkes disease phenotype.

Implications:

  • Recognizing neonatal erythroderma as a potential Menkes disease symptom can lead to earlier diagnosis.
  • Prompt diagnosis by pediatricians and dermatologists is crucial for initiating timely treatment.
  • Parenteral copper-histidine supplementation may improve the prognosis for affected infants.

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