Skip navigation | ||
|
||
Medical Encyclopedia |
|
Other encyclopedia topics: | A-Ag Ah-Ap Aq-Az B-Bk Bl-Bz C-Cg Ch-Co Cp-Cz D-Di Dj-Dz E-Ep Eq-Ez F G H-Hf Hg-Hz I-In Io-Iz J K L-Ln Lo-Lz M-Mf Mg-Mz N O P-Pl Pm-Pz Q R S-Sh Si-Sp Sq-Sz T-Tn To-Tz U V W X Y Z 0-9 |
Contents of this page: | |
|
|
|
|
|
Alternative names Return to top
Nevoid basal cell carcinoma syndrome; Gorlin's syndromeDefinition Return to top
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, incidence, and risk factors Return to top
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.
Children with this disease have wide set eyes, a broad nasal saddle, and a heavy protruding brow. They may also have a protruding jaw (prognathism). The hallmark of this disorder is the appearance of skin cancer (basal cell carcinoma) at or about puberty.
Nervous system involvement may include hydrocephalus (an enlargement of the head caused by fluid accumulation on the brain), seizures, mental retardation, deafness, and brain tumors (medulloblastoma). Defects in the iris or lens of the eye, and blindness are manifestations that can affect the eyes.
Defects in the bones include cysts in the upper jaw (maxilla) and lower jaw (mandible) that may cause abnormal tooth development or spontaneous jaw fractures. Other bony defects may be associated with this condition, such as scoliosis (curvature of the back), kyphosis (severe curvature of the back), and rib abnormalities.
Symptoms Return to top
Signs and tests Return to top
There is often a family history of basal cell nevus syndrome.Skin biopsy of tumors may be used to determine that they are basal cell carcinoma.
Genetic testing may demonstrate an abnormality in some patients with this disorder.
Treatment Return to top
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.Expectations (prognosis) Return to top
Frequent follow-up with a variety of doctors is vital to achieving a good outcome.
Complications Return to top
Calling your health care provider Return to top
Call 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.Prevention Return to top
Genetic counseling will be of value to prospective parents. If one parent is affected, the probability is 50% that the infant will be affected also.
Sun avoidance and sunscreen use are a must to decrease the appearance of new basal cell carcinomas.
Update Date: 7/2/2004 Updated by: Jonathan Kantor, M.D., Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network.
Home | Health Topics | Drug Information | Encyclopedia | Dictionary | News | Directories | Other Resources | |
Copyright | Privacy | Accessibility | Selection Guidelines U.S. National Library of Medicine, 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health | Department of Health & Human Services |
Page last updated: 28 October 2004 |