Skin disorders cover a wide range of conditions, some benign, some very serious, and some even a sign of another underlying illness. A skin disorder not only affects your physical health, but also your emotional well-being.
Basal Cell Nevus Syndrome
Basal cell nevus syndrome is an inherited group of multiple defects involving the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a predisposition for skin cancers.
Causes of Basal cell nevus syndrome
Basal cell nevus syndrome is a rare condition which is inherited as an autosomal dominant trait. This means that if a child inherits the defective gene from either parent, he or she will have the disorder. Basal cell nevus syndrome is caused by a tumor suppressor gene, called PTCH, located on chromosome . Mutations in this gene may increase the risk of ovarian cancer. Fair-skinned people have a much greater risk for Basal cell nevus syndrome . Radiation treatments, as well as immune suppression, also increase one's risk. People who use tanning beds also have an elevated risk for Basal cell nevus syndrome .
Signs and symptoms of Basal cell nevus syndrome
In addition to the characteristic facial appearance and the predisposition for skin cancers, symptoms may include mental retardation, seizures, brain tumors, spontaneous bone fractures, and deafness. Pits are sometimes visible in the palms of the hand and soles of the feet. Abnormal tooth development can result from cysts in the upper and lower jaws. Other bone defects associated with the disease include scoliosis (curvature of the spine), kyphosis (severe rounding of the upper back), and rib abnormalities.
Treatment for Basal cell nevus syndrome
Treatment for basal cell carcinoma depends on the stage of the disease (i.e., whether it has spread to surrounding tissue), the size and location of the tumor, and the patient's overall health. Standard treatment may include surgery, radiation therapy, and chemotherapy. This condition requires evaluation and treatment by several specialists, depending on the affected systems. For example, a cancer specialist (oncologist) may treat tumors, and an orthopedic surgeon may be needed to help treat bone abnormalities.
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