Hypohidrotic ectodermal dysplasia syndrome in a Sudanese patient: a case report

Hypohidrotic ectodermal dysplasia (HED) is a rare genodermatosis characterised by defects in the development of ectodermal tissues, primarily affecting hair, teeth, and sweat glands. It can be inherited in autosomal dominant, autosomal recessive, or X-linked patterns. Mutations in the EDA, EDAR, or EDARADD genes, which encode Ectodysplasin-A, the EDA receptor, and a death domain, respectively, are responsible for HED. A 36-year-old Sudanese male presented with hypohidrosis, hypodontia, hypotrichosis, and Ichthyosis without an obvious family history of the HED syndrome. Six members of his extended family were selected to investigate the mutation in the EDA gene and its inheritance. No deletions or mutations were detected in EDA coding exons. The patient is advised on environmental modifications to avoid overheating. This case highlights the potential involvement of other genes and recommends further genetic testing.