Goltz-Gorlin syndrome

A multisystem disorder characterised by complex ectodermal and mesodermal dysplasia with osseous involvement. Shortness of stature and slight build. Comprises atrophy and linear pigmentation of the skin, papillomata of mucous membranes and digital anomalies. Of reported cases, 90 % have been female. Mental retardation frequent. The mode of inheritance is uncertain but may be X-linked dominant, with male lethality.

• M. Jessner:
  Falldemonstration Breslauer dermatologisches Vereinigung.
  Archiv für Dermatologie und Syphilis, Berlin, 1921, 133: 48.
• O. Naegeli:
  Poikilodermie.
  Zentralblatt für Haut- und Geschlechtskrankheiten, 1927, 23: 638
• Jessner:
  Naeviforme poikilodermieartige Hautveränderungen mit Missbildungen.
  Zentralblatt für Haut- und Geschlechtskrankheiten, 1928, 27: 468.
• A. Marchionini, F. Besser:
  Über Poikilodermia atrophians vascularis (Jacobi).
  Archiv für Dermatologie und Syphilis, Berlin, 1932, 165: 431-442.
• S. L. Liebermann:
  Atrophodermia linearis maculosa et papillomatosis congenita.
  Archiv für Dermatologie und Syphilis, Berlin, 1935, 16: 476-478.
• H. N. Cole, et al:
  Ectodermal and mesodermal dysplasia with osseous involvement.
  Archiv für Dermatologie und Syphilis, Berlin, 1941, 44: 773-788.
• R. W. Goltz, W. C. Peterson, R. J. Gorlin, H. G. Ravits:
  Focal dermal hypoplasia.
  Archives of Dermatology, Chicago, 1962, 86: 708-717.
• R. J. Gorlin, L. H. Meskin, W. C. Peterson Jr., R. W. Goltz:
  Focal dermal hypoplasia syndrome.
  Acta dermato-venereologica, Stockholm, 1963, 42: 421-440.
• R. W. Goltz, R. R. Henderson, J. M. Hitch, J. E. Ott:
  Focal dermal hypoplasia syndrome: a review of the literature and report of two cases.
  Archives of Dermatology, Chicago, 1970, 101: 1-11.
  
  
• R. W. Goltz:
  Focal dermal hypoplasia syndrome: an update.(Editorial).
  Archives of Dermatology, Chicago, 1992, 128: 1108-1111.