Definition:
This condition is also known referred to as Multiple Basal Cell Carcinoma Syndrome, Basal Cell Nevus Syndrome, Gorlin-Goltz Syndrome or Gorlin Syndrome. This condition can be inherited. A person with this disease has multiple defects. Affected areas of the body include the skin, eyes and bones, nervous and endocrine systems.
This condition had its very first definition in 1960. It is an autosomal dominant condition that causes unusual appearance of the face and a higher risk for cancer. 1 case per 56,000-164,000 population had been reported to have this condition.
A child who had inherited the defective gene from either his mother or father will most likely have NBCCS.
Diagnosis:
Strong diagnostic criteria includes 1 or more than 2 Basal Cell Carcinomas found in a person below 20 years of age, odontogenic keratocysts of jaw, three of more palmar or plantar pits, falx cerebri calcification, fused, splayed or bifid ribs and a 1st degree relative affected with NBCCS.
Other less common diagnostic findings include microcephaly, any form of congenital malformations, skeletal anomalies, ovarian fibroma and medulloblastoma.
Treatment:
Treatment is multi-disciplinary which mainly consists of physical and emotional support. Minimal exposure to light is highly recommended. Radiation therapy is contraindicated as well for cancer treatment.
Symptoms and Signs:
The primary symptom of Nevoid Basal Cell Carcinoma Syndrome includes unusual appearance of the face. Symptoms associated with affectation of the nervous and endocrine systems are also apparent.
Causes:
Current advancements in the study of NBCCS show that this condition is possibly caused by mutations in the PTCH (Patched) gene which can be found in chromosome arm 9q. This condition is usually inherited by a child from his parent.
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nevoidbasalcellcarcinomasyndrome
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