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.
- 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:
- Mental retardation
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
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.