Ectodermal dysplasia - Skin
The syndrome is characterized by minimal or absent sweating, abnormal dentition, craniofacial dysmorphology, failure to thrive, thin hair, and recurrent respiratory infections (presumably because of abnormal mucous gland secretions). Absent sweating can result in pyrexia and hyperthermia. Febrile seizures are possible.
Q82.4 – Ectodermal dysplasia
8654005 – Ectodermal dysplasia
- Fried syndrome has normal sweating and severe nail dystrophy.
- Berlin syndrome is characterized by skin pigmentation mottling, normal sweating, and developmental delay.
- Rosselli-Gulienetti syndrome includes facial clefting and poplitea pterygia as well as the skin and hair features of an ectodermal dysplasia.
- Ectrodactyly-ectodermal dysplasia-clefting syndrome (EEC) and Hay-Wells syndrome of ectodermal dysplasia (ankyloblepharon-ectodermal dysplasia-cleft lip / palate [AEC], including Rapp-Hodgkin syndrome) include cleft lips.
- Hidrotic ectodermal dysplasia has no sweating abnormalities and diffuse velvety thickening of the palms and soles.
- Zanier-Roubicek syndrome has normal brows and lashes.
- Koshiba trichoonychodental dysplasia has specific dental anomalies and dramatic nail dystrophy.
- Basan syndrome
- Hypohidrotic ectodermal dysplasia with hypothyroidism
- Schopf-Schulz-Passarge is an autosomal recessive syndrome characterized by multiple eyelid apocrine hidrocystoma, palmoplantar hyperkeratosis, hypodontia, and hypotrichosis.