Syndrome Features

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) is also known as Gorlin Syndrome. Gorlin-Goltz Syndrome, and Basal Cell Nevus Syndrome (BCNS). It is an autosomal dominant disorder, which basically means that if only one parent has the gene the consequent children have a 50-50 chance of also having the gene. Patients with the syndrome are predisposed to cancer, especially multiple Basal Cell Carcinomas, and congenital malformations. The specific gene is 9q22.3-q31. The rate of prevalence is about 1 in 64,000 people. Diagnosis is primarily made by identifying two major features; Jaw Cysts (odontogenetic keratocysts), multiple basal cell carcinomas (at an early age), palmar pits, and a family history of the syndrome.

Approximately 80% of the patients are effected by the jaw cysts, which tend to grow rapidly, and also have a high recurrence rate. They can involve both the mandible (66%), and the maxilla (34%). Generally the cysts first appear before the age of 10.

The basal cell carcinomas appear before the age of 35 (early), and can number between a few & several thousand – mostly on the face & upper trunk. A small number of these may show aggressive behavior. 90% of Caucasians and 40% of African Americans get this symptom. Both races can exhibit the other symptoms equally.

Other skin features include; palmar and/or planter pits, epidermoid cysts, chalazia, comedones, palmar & plantar keratosis, and dermal calcinosis.

The central nervous system symptoms can include calcification of the falx, Medulloblastomas, astrocytomas, and mental retardation. Splayed, cervical, or bifid ribs also are evident in most cases. Ocular symptoms can include; cataracts, corneal opacities, and glaucoma. Ovarian fibromas may also be present (in females).

Basal cell carcinomas have several treatment options, some of which are explained here.

For a brief (non-medical jargon) description of these and some other possible syndrome symptoms, please see our survey page. If you have the syndrome, we would appreciate your filling out the confidential (electronic) form to help us gather information, that can be used to further our knowledge of this syndrome. Thank you.