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Goltz-Gorlin syndrome: Is it one or 2 syndromes ?

  • What syndrome is it and who is the author ?



  • The authors are two physicians with the same first name. Dr Robert Gorlin (1923-2006) was initially a dentist and was interested in oral diseases. He joined the Minnesota school of dentistry as a stomatologist (histology and oral pathology).



  • When he observed a female patient with odontogenic cysts, systemic anomalies (skeletal changes, ovarian cysts) as well as numerous skin lesions covering the whole face, he contacted a colleague who was dermatologist – Dr Robert Goltz. The latter diagnosed numerous basal cell carcinomas.
    • The 2 authors found a similar observation in a mother and her daughter.
    • In 1960, they published the observation under the term  “naevoid basal cell carcinoma syndrome” now also known as the Gorlin-Goltz syndrome or simply Gorlin syndrome.



…Later on, the opposite occurred…

  • Dr R Goltz made an interesting observation in a female patient….presence of polymorphous cutaneous lesions (hypodermal lesions with focal hernia).
  • He contacted Dr R. Gorlin (who other than stomatologist) has become an expert geneticist.
  • In 1962, they publish this syndrome under the name “focal dermal hypoplasia”. It is later known as Goltz-Gorlin syndrome.
  • The 2 syndromes are thus completely different.
  • They have in common the names and the close dates of publication.
  • Also both syndromes have dermatological manifestations enabling to establish the diagnosis without too much difficulty.



Source of information: Harms M. Dermatologica Helvetica (The Swiss Journal of Dermatology and Venereology)

Source of information: here