 Basal cell nevus syndrome
Definition Alternative Names Causes, incidence, and risk factors Symptoms Signs and tests Treatment Expectations (prognosis) Complications Calling your health care provider Prevention References DefinitionBasal cell nevus syndrome is a group of defects, passed down through families, that involve the skin, nervous system, eyes, endocrine glands, and bones. The condition causes an unusual facial appearance and a higher risk of skin cancers. Alternative NamesNevoid basal cell carcinoma syndrome; Gorlin syndrome Causes, incidence, and risk factorsBasal cell nevus syndrome is a rare genetic condition. The gene linked to the syndrome is passed down through families as an autosomal dominant trait. That means you will get the syndrome if either parent passes the gene down to you. SymptomsThe hallmark of this disorder is the appearance of a type of skin cancer known as basal cell carcinoma at or about puberty. Symptoms include: - Broad nose
- Heavy, protruding brow
- Jaw that sticks out (in some cases)
- Wide-set eyes
The condition may affect the nervous system and lead to: The condition also leads to bone defects, including: - Curvature of the back (scoliosis)
- Severe curvature of the back (kyphosis)
- Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures
- Rib abnormalities
Signs and testsThe person may have a family history of basal cell nevus syndrome and several basal cell skin cancers in the past. Tests that may be done include: - Genetic testing (in some patients)
- Skin biopsy of tumors
- X-rays to check for bone cysts in the jaw, mineral deposits in the brain, and multiple bone abnormalities
TreatmentPersons with this condition should be seen and treated by several specialists, depending on what part of the body is affected. For example, a cancer specialist (oncologist) may treat tumors, and an orthopedic surgeon may be needed to help treat bone problems. Expectations (prognosis)Frequent follow-up with a variety of doctors is vital to achieving a good outcome. Complications- Blindness
- Brain tumor
- Deafness
- Ovarian tumors
- Skin damage due to skin cancers
- Spontaneous fractures
Calling your health care providerCall for an appointment with your health care provider if you or any family members have basal cell nevus syndrome and you are planning to have a child. Call your provider if you have a child who has symptoms of this condition. PreventionCouples with a family history of this syndrome might consider genetic counseling before becoming pregnant. Avoiding the sun and using sunscreen are necessary to help prevent new basal cell skin cancers. Avoid ionizing radiation such as x-rays. People with this condition are very sensitive to radiation, and exposure can lead to skin cancers. ReferencesBehrman RE, Kliegman RM, Jenson HB, eds. Nelson Textbook of Pediatrics. 17th ed. Philadelphia, Pa: WB Saunders; 2004.
Review Date: 2/5/2008
Reviewed By: Kevin Berman, MD, PhD, Associate, Atlanta Center for Dermatologic Disease, Atlanta, GA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
|