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Basal cell nevus syndrome, also known as Gorlin syndrome, is a genetic disorder that causes various abnormal growths and malfunctions of the internal body organs and systems. It primarily affects the skin and causes skin cancer, but can also cause growths on bones or internal organs, as well as the breakdown of blood vessels or the nervous system. The syndrome can occur equally in any males or females who have a parent with the syndrome, but symptoms may not be apparent until adolescence.
When a child is conceived, he or she receives genes from each parent that determine what types of characteristics he or she will be born with. The cause of basal cell nevus syndrome is a mutation in the gene, known as PTCH, that is responsible for suppressing the abnormal cell growths which result in tumors. The condition is autosomal dominant, which means the child will automatically get the disease even if just one parent has it.
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. The majority of skin cancer cases are due to sun or ultraviolet ray exposure from tanning beds, but people with the syndrome have skin cells that are more susceptible to the cancer, even with protection. The skin cancer typically develops without warning by the time a person with the syndrome reaches adolescence. Basal cell carcinoma is not usually deadly and can be treated by surgically removing the growths or using radiation therapy to kill the cancer cells.
People with basal cell nevus syndrome will usually have slight facial deformities as a result of tumors or damage to the bone structure. They may have eyebrow bones that stick out farther than normal, as well as eyes that are spaced far apart. In more serious instances of the syndrome, a person may have misshapen jaw bones that causes the jaw to protrude more than usual.
The other symptoms of basal cell nevus syndrome can vary widely depending on the specific person and what organs or body systems are affected. Tumors can occur on any organ, but tend to be most common in the brain for people with the syndrome. If the condition causes malfunctions of the nervous system, a person is at risk for becoming mentally retarded, deaf, or blind. Since the symptoms and complications of basal cell nevus syndrome range from person to person, there is no universal treatment option. A person with the syndrome will often have to consult with specialists to treat the specific complications; however, the syndrome itself has no cure.
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