Idiopathic Scaphoid Avascular Necrosis in a Patient With Hypohidrotic Congenital Ectodermal Dysplasia

Abstract

Hypohidrotic ectodermal dysplasia (HED), also called Christ–Siemens–Touraine (CST) syndrome, is a rare genetic syndrome that affects structures of ectodermal origin, such as the nails, teeth, hair, sweat glands, and skin. Deficiency or absence of these anatomical structures can result in hypotrichosis, hypodontia, hypohidrosis, or anhidrosis. Most cases show X-linked inheritance associated with mutations in the ectodysplasin (EDA) gene, although autosomal dominant or recessive inheritance patterns have also been observed. Avascular necrosis of the scaphoid bone is common after a fracture and can also be associated with systemic disease or chronic steroid administration, while idiopathic avascular necrosis of the scaphoid is very rare. This report presents a patient with HED who developed idiopathic avascular necrosis of the scaphoid and discusses the potential association between the two. Level of Evidence: V, diagnostic study. © 2014, Springer-Verlag Berlin Heidelberg.