Anhidrotic ectodermal dysplasia with palmoplantar keratoderma: an unusual presentation.
Anhidrotic ectodermal dysplasia (AED), or Christ-Siemens-Touraine syndrome, was first described in 1848 by Thurnam. It is characterized by a partial or complete absence of sweat glands, hypotrichosis and hypodontia. The mode of inheritance is predominantly X-linked but an autosomal recessive pattern has also been observed.(2) Palmoplantar keratoderma is classically a component of hidrotic ectodermal dysplasia; however, we report herein two brothers who had classical manifestations of AED along with palmoplantar keratoderma.
Sandhu
Kamaldeep
K
Department of Dermatology, Venereology and Leprology, Postgraduate Institute of Medical Education and Research, Chandigarh, India.
Handa
Sanjeev
S
Kanwar
A J
AJ
D002648:Child; D053358:Ectodermal Dysplasia 1, Anhidrotic / Q000235:genetics / Q000473:pathology*; D050172:Genes, X-Linked; D006801:Humans; D007645:Keratoderma, Palmoplantar / Q000235:genetics / Q000473:pathology*; D008297:Male; D010375:Pedigree; D012867:Skin / Q000473:pathology*; D013577:Syndrome