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Nevoid Basal Cell Carcinoma Syndrome
Abstract
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NORD is very grateful to Allen E. Bale, MD, Department of Genetics, Yale University School of Medicine, for assistance in the preparation of this report.
Synonyms of Nevoid Basal Cell Carcinoma Syndrome
- basal cell nevus syndrome
- BCNS
- Gorlin-Goltz syndrome
- Gorlin syndrome
- Hermans-Herzberg phakomatosis
- NBCCS
Disorder Subdivisions
- No subdivisions found.
General Discussion
Summary
The nevoid basal cell carcinoma syndrome (NBCCS) is a rare, complex genetic disorder characterized by a wide variety of developmental abnormalities and a predisposition to developing certain forms of cancer, particularly a type of skin cancer known as basal cell carcinoma. The specific symptoms and severity of NBCCS can vary greatly from one individual to another, even among members of the same family. Multiple organ systems can become involved. Common symptoms include multiple basal cell carcinomas, recurrent keratocystic odontogenic tumors of the jaws, pits of the palms and soles, and skeletal malformations. Some affected individuals may have distinctive facial features. The onset of specific symptoms can vary occurring anywhere from infancy through adulthood. NBCCS is caused by mutations in the PTCH1 gene and is inherited as an autosomal dominant trait, but a significant fraction of cases are sporadic (due to new mutations) with no previous family history.
Introduction
In 1894, the first patients with NBCCS were described in the medical literature by two different doctors. However, it was not until 1960 that two physicians (Drs. Robert Gorlin and Robert Goltz) wrote the first in-depth description of NBCCS as a distinct clinical entity. Consequently, the disorder is also known as Gorlin syndrome or Gorlin-Goltz syndrome. Over the years, case reports and series have continued to expand the range of symptoms and physical findings that can be associated with NBCCS, and there are now more than 100 different recognized features.
Organizations related to Nevoid Basal Cell Carcinoma Syndrome
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