Clouston syndrome: an ultrastructural study

Clin Genet. 1983 Aug;24(2):140-6. doi: 10.1111/j.1399-0004.1983.tb02225.x.

Abstract

A previously undescribed French-Canadian family affected with Clouston Syndrome (Hypohidrotic Ectodermal Dysplasia) is described. Ultrastructural study of the hair shows disorganization of the hair fibrils with loss of the cuticular cortex. The SEM findings are consistent with the model, suggesting a biochemical defect in the keratin of the integumentary system.

Publication types

  • Case Reports

MeSH terms

  • Child
  • Ectodermal Dysplasia / complications
  • Ectodermal Dysplasia / genetics
  • Ectodermal Dysplasia / pathology*
  • Female
  • Hair / ultrastructure*
  • Hair Diseases / etiology
  • Hair Diseases / pathology*
  • Humans
  • Male
  • Microscopy, Electron, Scanning
  • Pedigree