Symptoms & Signs
The hallmark of this disorder is the appearance of a type of skin cancer known as basal cell carcinoma at or around 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:
- Blindness
- Deafness
- Mental retardation
- Seizures
The condition also leads to bone defects, including:
- Curvature of the back (scoliosis)
- Severe curvature of the back (kyphosis)
Diagnosis & Tests
The person may have a family history of basal cell nevus syndrome and several basal cell skin cancers in the past.
Tests may reveal:
- Brain tumors
- Cysts in the jaw, which can lead to abnormal tooth development or jaw fractures
- Defects in the colored part (iris) or lens of the eye
- Head swelling due to fluid on the brain (hydrocephalus)
- Rib abnormalities
Tests that may be done include:
- Genetic testing (in some patients)
- Skin biopsy of tumors
- X-rays
-
Basal cell nevus syndrome : Overview, Causes, & Risk Factors
-
Basal cell nevus syndrome : Symptoms & Signs, Diagnosis & Tests
-
Basal cell nevus syndrome : Treatment
Review Date : 8/2/2009
Reviewed By : Michael Lehrer, MD, Department of Dermatology, University of Pennsylvania Medical Center, Philadelphia, PA. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only — they do not constitute endorsements of those other sites. © 1997- 2010 A.D.A.M., Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
