Case for diagnosis: (Ectodermal dysplasia: Christ-Siemens-Touraine syndrome).
Christ-Siemens-Touraine syndrome (hypohidrotic ectodermal dysplasia) is a rare syndrome characterized by the triad of absent or reduced sweating, hypotrichosis, and defective dentition. The prominent forehead, saddle nose, thick lower lip and pointy chin produce a distinctive facies. The full syndrome only occurs in men as it is an X-linked recessive condition.
Succi
Isabella Brasil
IB
Instituto de Dermatologia Prof. Azulay, Santa Casa da Misericórdia do Rio de Janeiro - Rio de Janeiro (RJ), Brasil. ibsucci@unisys.com.br
Fontenelle
Elisa
E
D002648:Child; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000175:diagnosis* / Q000235:genetics; D006801:Humans; D008297:Male; D011862:Radiography, Panoramic