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–κβ 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.
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Doffinger R, Smahi A, Bessia C et al (2001) X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF–kB signalling. Nat Genet 27:277–285
Dupuis-Girod S, Corradini N, Hadj-Rabia S et al (2002) Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother. Pediatrics 115:615–619
Mansour S, Woffendin H, Mitton S et al (2001) Incontinentia pigmenti in a surviving male is accompanied by hypohidrotic ectodermal dysplasia and recurrent infections. Am J Med Genet 99:172–177
Mikkola ML (2009) Molecular aspects of hypohidrotic ectodermal dysplasia. Am J Med Genet Part A 149A:2031–2036
Scheuerle AE (1988) Male cases of incontinentia pigmenti: case report and review. Am J Med Genet 77:201–218
Zonana J, Elder ME, Schneider LC et al (2000) A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incotinentia pigmenti and due to mutations in IKK-gamma (NEMO). Am J Hum Genet 67:1555–1562
We would like to thank the following doctors for their help in making the diagnosis and involvement in the care of this patient:
Dr. Paula Beattie, Consultant Dermatologist, Western Infirmary, Glasgow
Dr. Martin Hewitt, Consultant Paediatric Oncologist, Nottingham University Hospitals
Dr. Douglas Thomas, Consultant Paediatrician, Lincoln County Hospital
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Roberts, C.M.L., Angus, J.E., Leach, I.H. et al. A novel NEMO gene mutation causing osteopetrosis, lymphoedema, hypohidrotic ectodermal dysplasia and immunodeficiency (OL-HED-ID). Eur J Pediatr 169, 1403–1407 (2010). https://doi.org/10.1007/s00431-010-1206-7