Neonatal Erythroderma as a First Manifestation of Menkes Disease
Galve J et al. – 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.