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

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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–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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Acknowledgments

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

Competing Interests

None.

Author information

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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Keywords

  • NEMO
  • OL-HED-ID
  • Immunodeficiency