Neonatal erythroderma as a first manifestation of Menkes disease.
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.
Department of Dermatology, Hospital Sant Joan de Deu, University of Barcelona, Barcelona, Spain.
Javier
J
Galve
Asunción
A
Vicente
María Antonia
MA
González-Enseñat
Belén
B
Pérez-Dueñas
Victoria
V
Cusí
Lisbeth Birk
LB
Møller
Marc
M
Julià
Anna
A
Domínguez
Juan
J
Ferrando
D000251:Adenosine Triphosphatases / Q000235:genetics; D027682:Cation Transport Proteins / Q000235:genetics; D000073840:Copper-Transporting ATPases; D003873:Dermatitis, Exfoliative / Q000209:etiology*; D017809:Fatal Outcome; D005819:Genetic Markers; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D007706:Menkes Kinky Hair Syndrome / Q000150:complications / Q000175:diagnosis* / Q000235:genetics; D017384:Sequence Deletion
D027682:Cation Transport Proteins; D005819:Genetic Markers; D000251:Adenosine Triphosphatases; C081184:ATP7A protein, human; D000073840:Copper-Transporting ATPases