BMJ Case Reports 2011; doi:10.1136/bcr.01.2011.3731
  • Reminder of important clinical lesson

Ocular and non-ocular manifestations of hypohidrotic ectodermal dysplasia

  1. Adnan A Hashim1
  1. 1Department of Ophthalmology, Rotherham General Hospital, Rotherham, UK
  2. 2Department of Paediatrics, Rotherham General Hospital, Rotherham, UK
  1. Correspondence to Dr Pallavi Tyagi, palv2007{at}


Hypohidrotic ectodermal dysplasia (HED) is a group of rare multisystemic genetic syndromes that affects ectodermal structures such as skin, hair, nails, teeth and sweat glands. The authors present a case of a child with ocular and dermatological signs of HED along with severe involvement of other multiple organ systems. The family history could be traced to four generations and there was an observed trend of increase in severity of signs and symptoms occurring at younger age. The purpose of this case report is to create awareness in ophthalmic community of its diagnosis and clinical manifestations. This case highlights the role of multidisciplinary approach for management of systemic disease, genetic evaluation of affected individuals and carriers and genetic counselling.


  • Competing interests None.

  • Patient consent Obtained.

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