Christ-Siemens-Touraine syndrome

A rare, congenital development defect of the ectoderm and mesoderm structures in which absence of sweat glands impairs heart regulation and causes heat intolerance. The sebaceous glands are also absent. Characteristic clinical features include dry, greyish white, smooth, shiny skin with anhidrosis, hypotrichosis and poor dental development. The facies is characteristic, with a prominent forehead, saddle nose, thick lips, deformed ears, and fine short blonde hair. Affected children are usually small and somewhat female in appearance. Onset from birth. Etiology unknown.

It occurs predominantly in males and is usually transmitted as a sex-linked trait (severe), the gene being carried by the female and manifested in the male, but some cases have been reported in females. Also occurs as an autosomal dominant form (mild).

Siemens’ report was based on the study of 19 families.

Wedderbrun communicated to Charles Darwin (1809-1882) the case of one Hindu family at Scinde in which 10 men over 4 generations presented an ectodermal dysplasia; Darwin described this in 1875.

Darwin wrote as follows: "I may give an analogous case, communicated to me by Mr. W. Wedderburn, of a Hindoo family in Scinde, in which ten men, in the course of four generations, were furnished, in both jaws taken together, with only four small and weak incisor teeth and with eight posterior molars. The men thus affected have very little hair on the body, and become bald early in life. They also suffer much during hot weather from excessive dryness of the skin. It is remarkable that no instance has occurred of a daughter being affected...though the daughters in the above family are never affected, they transmit the tendency to their sons: and no case has occurred of a son transmitting it to his sons. The affection thus appears only in alternate generations, or after long intervals."

• J. Thurman:
  Two cases in which the skin, hair and teeth were imperfectly developed.
  Medico-Chirurgical Transactions, London, 1848, 31: 71-82.
• Charles Darwin:
  The Variation of Animals and Plants under Domestication.
  2nd edition, London, John Murray, 1875.
• S. Guilford:
  Eine Zahnanomalie.
  Wiener medizinische Wochenschrift, 1883, 33: 1116.
• L. Jacquet:
  Les rapports de la pelade avec les lésions dentaires.
  La presse médicale, Paris, 1900, 8,2: 327.
• J. Christ:
  Über die kongenitalen ectodermalen Defekte und Ihre Beziehungen zu einander; vikariirendes Pigment für Haarbildung.
  Archiv für Dermatologie und Syphilis, Berlin, 1913, 116: 685-703.
• A. A. Weech:
  Hereditary ectodermal dysplasia (congenital ectodermal defect). A report of two cases.
  American Journal of Diseases of Children, Chicago, 1929, 7: 766-790.
• H. W. Siemens:
  Studien über Vererbung von Hautkrankheiten XII. Anhidrosis hipotrichotica.
  Archiv für Dermatologie und Syphilis, Berlin, 1937, 175: 567-577.
• A. Touraine
  L’anidrose avec hypotricose et anodontie.” (Polydysplasie ectodérmique héréditaire.)
  La presse médicale, Paris, 1936, 44: 145-149.
• Harold C. Slavkin, Lillian Shum and Glen H. Nuckolls:
  Ectodermal Dysplasia: A Synthesis Between Evolutionary, Developmental, and Molecular Biology and Human Clinical Genetics.
  In: Cheng-Ming Chuong, editor: Molecular Basis of Epithelial Appendage Morphogenesis. 1998.