Idiopathic scaphoid avascular necrosis in a patient with hypohidrotic congenital ectodermal dysplasia

Şimşek T., Yosma E., Demir A.

EUROPEAN JOURNAL OF PLASTIC SURGERY, cilt.38, sa.2, ss.153-156, 2015 (ESCI) identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 38 Sayı: 2
  • Basım Tarihi: 2015
  • Doi Numarası: 10.1007/s00238-014-1032-7
  • Dergi Adı: EUROPEAN JOURNAL OF PLASTIC SURGERY
  • Derginin Tarandığı İndeksler: Emerging Sources Citation Index (ESCI), Scopus
  • Sayfa Sayıları: ss.153-156
  • Anahtar Kelimeler: Hypohidrotic ectodermal dysplasia., Christ-Siemens-Touraine syndrome., Idiopathic scaphoid avascular necrosis., Preiser's disease
  • Ondokuz Mayıs Üniversitesi Adresli: Evet

Özet

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 Xlinked 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.