Nevoid basal cell carcinoma syndrome; Gorlin syndrome

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)

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

Images

Basal cell nevus syndrome - face

Basal cell nevus syndrome - plantar pits

Basal cell nevus syndrome - close-up of palm

Basal cell nevus syndrome - face and hand

Basal cell nevus syndrome

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Basal cell nevus syndrome Overview

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Basal cell nevus syndrome Treatment

Review Date: 08/02/2009
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.

A.D.A.M., Inc. is accredited by URAC, also known as the American Accreditation HealthCare Commission (www.urac.org)