Nevoid Basal Cell Carcinoma Syndrome, also known as Gorlin syndrome or basal cell nevus syndrome, is a rare genetic disorder characterized by multiple basaliomas (a type of skin cancer) and a range of other developmental abnormalities. This syndrome is primarily caused by mutations in the PTCH1 gene, which plays a crucial role in the regulation of cell growth and development.
Individuals with Nevoid Basal Cell Carcinoma Syndrome typically exhibit numerous basal cell carcinomas on their skin, commonly appearing on the face, neck, and back. These basal cell carcinomas may manifest as small, raised, and shiny bumps with blood vessels visible on their surface. Moreover, people with this syndrome often display other physical abnormalities such as fine, sparse hair, a broad nasal bridge, cleft lip or palate, and skeletal abnormalities such as bifid ribs or polydactyly.
Aside from these physical manifestations, Nevoid Basal Cell Carcinoma Syndrome can also lead to various non-cancerous tumors, particularly in the brain and nervous system. These tumors may cause symptoms like headaches, vision problems, and facial asymmetry. Additionally, this genetic disorder is associated with an increased risk of developing ovarian and medulloblastoma tumors.
Due to the complex nature of Nevoid Basal Cell Carcinoma Syndrome, a multidisciplinary approach for management and treatment is necessary. This includes regular surveillance for skin cancers, neuroimaging to detect brain tumors, and genetic counseling for affected individuals and their families. Treatment options for basal cell carcinomas may include surgical excision, cryotherapy, or topical medication, depending on the extent and location of the tumors.
