Ectodermal dysplasia (ED) refers to a group of genetic disorders characterized by the abnormal development or function of two or more structures that originate from the ectoderm, the outer layer of an embryo. These structures include hair, teeth, nails, and sweat glands, all of which may develop abnormally in people with ED. There are over 200 different syndromes classified under ED, each with a range of symptoms and genetic causes. The most common type is hypohidrotic ectodermal dysplasia (HED), which affects approximately 1 in every 5,000 to 10,000 live births. HED primarily affects males because it is typically inherited through the X chromosome. Beyond HED, other types of ED follow different inheritance patterns, such as autosomal dominant or autosomal recessive, but often show similar physical traits, though with different genetic mutations.

Diagnosing ED usually involves a clinical examination focused on core symptoms, such as lack of sweating, specific dental and hair abnormalities, and characteristic facial features. Genetic testing can confirm the diagnosis, especially when there is a family history of ED or when prenatal screening is considered.

  • Hypohidrotic ectodermal dysplasia can be associated with EDA, EDAR and EDARADD.
  • Margarita Island ectodermal dysplasia is associated with PVRL1.
  • Ectodermal dysplasia with skin fragility is associated with PKP1.
  • Clouston's hidrotic ectodermal dysplasia is associated with GJB6.
  • Naegeli syndrome/Dermatopathia pigmentosa reticulariss is associated with KRT14.
  • Pachyonychia congenita is caused by multiple keratins.
  • Focal dermal hypoplasia is associated with PORCN.
  • Ellis–van Creveld syndrome is associated with EVC.

Diagnosis

Diagnosis of ED is usually made based on episodes of unusual fevers (hyperpyrexia) brought about by absence or immaturity of sweat glands, as well as absence or type of hair or the absence and morphology of the teeth.

  • Cory DeVantè Williams known online professionally as CoryxKenshin
  • Javante Carter, Internet personality and comedian known professionally as HolyGxd (HolyGod)
  • Tokie du Prez, African actor and musician with hypohidrotic ectodermal dysplasia, adopted child of Die Antwoord
  • Patrick M. Brenner, American nonprofit executive and political commentator

See also

  • List of cutaneous conditions
  • List of cutaneous conditions caused by mutations in keratins

References