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

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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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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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Correspondence to Catherine M. L. Roberts.

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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

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  • NEMO
  • Immunodeficiency