Basal Cell Nevus Syndrome is a genetic disorder characterized by the development of numerous basal cell carcinomas, as well as jaw cysts and skeletal abnormalities. The word "basal" is pronounced /ˈbeɪsəl/, "cell" is pronounced /sɛl/, "nevus" is pronounced /ˈniːvəs/, and "syndrome" is pronounced /ˈsɪndroʊm/. The correct spelling of this condition is important for accurate communication among healthcare professionals, researchers and patients. Early detection and treatment is crucial in managing this potentially serious condition.
Basal Cell Nevus Syndrome (BCNS), also known as Gorlin-Goltz Syndrome, is a rare genetic disorder characterized by the development of multiple basal cell carcinomas (BCCs) and other health issues. This syndrome is inherited in an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing on the mutated gene to each of their offspring.
The primary feature of BCNS is the early onset and increased frequency of basal cell carcinomas, a type of skin cancer derived from the basal cells of the outermost layer of the skin. These tumors usually appear in sun-exposed areas and may be multiple, large, and disfiguring. Alongside skin cancer, individuals with BCNS may exhibit several other clinical manifestations. These may include the presence of jaw cysts (odontogenic keratocysts), skeletal abnormalities (such as bifid ribs or falx calcification), and an increased risk of developing other types of cancer like medulloblastoma or ovarian fibromas.
BCNS is caused by mutations in the PTCH1 gene, which plays a crucial role in regulating cell growth and development. The abnormal PTCH1 gene leads to the uncontrolled growth and division of basal cells, resulting in the formation of numerous tumors. Diagnosis of BCNS primarily relies on clinical evaluation, family history, and genetic testing.
Treatment for BCNS typically involves a multidisciplinary approach aimed at managing the various manifestations of the syndrome. This may include surgery to remove tumors, regular screenings for early detection of other cancers, and genetic counseling for affected individuals and their families.