A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

[lymphedemapeople]

A novel NEMO gene mutation causing osteopetrosis, lymphoedema,
hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID).

Eur J Pediatr. 2010 May 2

Roberts CM, Angus JE, Leach IH, McDermott EM, Walker DA, Ravenscroft
JC.

Department of Dermatology, Nottingham University Hospitals, Derby
Road, Nottingham, NG7 2UH, UK, catherin...@nuh.nhs.uk.

Abstract

Genetic conditions are increasingly recognised as a cause of
multisystem diseases in children. We report a 6-year-old boy with
hypohidrotic ectodermal dysplasia, immunodeficiency, osteopetrosis and
lymphoedema, associated with a novel mutation in the NF-kappabeta
essential modulator (NEMO) gene. He is the longest surviving of three
reported boys with these clinical features. Hypohidrotic ectodermal
dysplasia, a congenital disorder of teeth, hair and eccrine sweat
glands is most commonly inherited as an X-linked recessive trait.
Associated immunodeficiency (HED-ID) may give rise to serious
infections in early life. Mutations in the NEMO gene give rise to a
heterogeneous group of disorders, including the X-linked dominant
disorder incontinentia pigmenti. This is characterised by typical skin
changes leading to linear pigmentary change and variable associated
features; in males, prenatal death usually occurs. Our patient, like
one if the previous cases and all of their mothers, demonstrates
features of incontinentia pigmenti.

http://www.springerlink.com/content/lx24u314n7748164/