Basal cell nevus syndrome is a genetic disorder that causes abnormal growths on the skin, bones, and internal organs. It is caused by a mutation in the PTCH gene and is autosomal dominant. Symptoms include skin cancer, facial deformities, and nervous system malfunctions. Treatment varies depending on the specific complications.
Basal cell nevus syndrome, also known as Gorlin syndrome, is a genetic disorder that causes various abnormal growths and malfunctions of the body’s internal organs and systems. It mainly affects the skin and causes skin cancer, but it can also cause growths on bones or internal organs, as well as ruptured blood vessels or the nervous system. The syndrome can manifest equally in all males or females who have a parent with the syndrome, but symptoms may not be apparent until adolescence.
When a child is conceived, it receives genes from each parent that determine what kinds of characteristics it will be born with. The cause of basal cell nevus syndrome is a mutation in the gene, known as PTCH, which is responsible for suppressing the abnormal growths of cells that cause tumors. The condition is autosomal dominant, meaning that the child will automatically get the disease even if only one parent is affected.
The most common symptom of basal cell nevus syndrome is basal cell carcinoma, a form of skin cancer that causes open sores on the skin. Most cases of skin cancer are due to exposure to the sun or ultraviolet rays from tanning beds, but people with the syndrome have skin cells that are more susceptible to cancer, even with protection. Skin cancer typically develops without warning as a person with the syndrome reaches adolescence. Basal cell carcinoma is usually not fatal and can be treated by surgically removing the growths or using radiation therapy to kill the cancer cells.
People with basal cell nevus syndrome usually have mild facial deformities due to tumors or damage to the bone structure. They may have brow bones that stick out more than normal, as well as eyes that are spaced far apart. In severe cases of the syndrome, a person may have misshapen jawbones that cause the jaw to protrude further than usual.
The other symptoms of basal cell nevus syndrome can vary widely depending on the specific person and which organs or body systems are affected. The tumors can occur on any organ, but tend to be more common in the brain for people with the syndrome. If the condition causes nervous system malfunctions, a person is at risk of becoming mentally retarded, deaf, or blind. Because the symptoms and complications of basal cell nevus syndrome vary from person to person, there is no one-size-fits-all treatment option. A person with the syndrome will often need to see specialists to treat specific complications; however, the syndrome itself has no cure.
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