Hypohydrotic Ectodermal Dysplasia in Black Africans

Abstract

Ectodermal dysplasia is an uncommon genodermatosis which may be associated with mental retardation. The diagnosis is often missed in newborns or delayed due to its varied overlapping clinical presentation in affected individuals. We report two maternal blood related males with complaints of heat intolerance since birth, lack of sweating and dry scaly skin. Both had normal developmental milestone and mental acuity. The treatment is symptomatic and patient dependant while overall management requires a multidisciplinary team approach.

Keywords

• Hypohidrotic, ectodermal dysplasia, hypodontia

Hypohydrotic Ectodermal Dysplasia in Black Africans

Öz

Ektodermal displazi mental retardasyon ile ilişkili nadir genodermatozisdir. Tanı sıklıkla yenidoğanlarda atlanılır ve kişileri etkiliyen diğer klinik durumlar nedeniyle geç konulur. Biz terleme eksikliği ve kuru deri nedeniyle doğumda ısı intoleransı gelişen 2 erkek hasta bildirdik. Tedavi semptomatik ve multidisipliner bir yaklaşım ile hastaya göre değişmektedir

Anahtar Kelimeler

• Hipohidrotik, ektodermal displazi, hipodonti

Kaynakça

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