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Gorlin-Goltz syndrome

Alternative eponyms

  • Hermans-Grosfeld-Spaas-Valk syndrome
  • Ward’s syndrome II

Synonyms

Basal cell naevus (carcinoma), fifth phakomatosis, epithélioma naevique multiple (French), hereditary cutaneo-mandibular polyoncosis, multiple basal-cell carcinoma syndrome, multiple basal cell nevi, multiple hereditary cutaneomandibular polyoncosis, multiple nevoid basal-cell carcinoma syndrome, naevus epitheliomatodes multiplex, nevoid basal-cell carcinoma syndrome, nevoid basal-cell epithelioma-jaw cyst-bifid rib syndrome.

Related people

Inheritable disease comprising multiple cutaneous nodules which tend to become malignant in early adulthood, together with cysts of the jaws, cranial enlargement and a variety of minor skeletal malformations.

Description

Autosomal dominant inheritable disease with high penetrance and variable expressivity. Comprises multiple cutaneous nodules which tend to become malignant in early adulthood, together with cysts of the jaws, cranial enlargement and a variety of minor skeletal malformations. There is an associated increased incidence of ovarian fibromas. Mental retardation frequent. No sex prevalence. Inheritance is autosomal dominant.

Single cases had been described previously by Adolf Jarisch (1850-1902) in 1894, Moriz Kaposi (1837-1902) in 1872, Nomland in 1932, Binkley and Johnson in 1951.

Gorlin also later described two additional forms of Gorlin’s syndrome that involve dwarfism and heart problems.

Wards's syndrome has been entered as a separate entity under W. H. Ward, Australian physician.

Bibliography

  • M. Kaposi:
    Idiopathisches multiples Pigmentsarkom der Haut.
    Archiv für Dermatologie und Syphilis, Prague, 1872, 4: 265-273.
  • R. J. Gorlin, R. W. Goltz:
    Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A syndrome.
    New England Journal of Medicine, Boston, 1960, 262: 908-912.
  • W. H. Ward:
    Nevoid basal cell carcinoma associated with a dyskeratosis of the palms and soles. A new entity.
    Australian Journal of Dermatology, 1960, 5: 204-207.
  • J. J. Herzberg, A. Wiskemann:
    Die fünfte Phakomatose. Basalzellnaevus mit familiärer Belastung und Medulloblastom.
    Dermatologica, Basel, 1963, 126: 106-123.
  • R. J. Gorlin, R. A. Vickers, E. Kelln, J. J. Williamson:
    The multiple basal-cell nevi syndrome.
    Cancer, 1965, 1: 89-103, 1965.
  • J. C. M. Grosfeld, J. Spaas, W. J. B. M Van de Staak, A. M. Stadhouders:
    Hyalinosis cutis et mucosae. Dermatologica, Basel, 1965, 130: 239-266.
  • E. H. Hermans, J. C. M. Grosfeld, J. A. J. Spaas:
    The fifth phacomatosis. Dermatologica, Basel, 1965, 130 (6): 446-476.
  • R. J. Gorlin:
    Nevoid basal-cell carcinoma syndrome. Medicine, New York, 1987, 66: 98-110.
We thank Andre Trombeta for information submitted.

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