Basal cell nevus syndrome

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Basal cell nevus syndrome

• Family history of basal cell nevus syndrome
• Past diagnosis of multiple basal cell skin cancers
• Characteristic facial appearance including wide set eyes, broad nasal bridge, heavy ridge over eyes, and protruding jaw
• Defect in iris of the eye
• Opaque lens of eye (cataracts)
• Blindness
• Abnormal teeth with pits in the enamel
• Skeletal abnormalities

There is often a family history of basal cell nevus syndrome.

X-rays may reveal bone cysts in the jaw, calcification of falx cerebri (mineral deposits in the brain), and multiple bone abnormalities.

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.

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