Basal cell nevus syndrome : Symptoms & Signs, Diagnosis & Tests

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


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.

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