Basal cell nevus syndrome

Alternative names:

nevoid basal cell carcinoma syndrome

Symptoms:

• family history of basal cell nevus syndrome
• a past diagnosis of multiple basal cell skin cancers

+ frequently located around the eyes, cheek bones, upper lip

• characteristic facial appearance:

+ wide set eyes (hypertelorism)
+ saddle of nose is broad (broad nasal bridge)
+ heavy ridge over eyes (frontal bossing)
+ protruding jaw (prognathism)

• defect in iris (coloboma)

+ slit in iris or
+ irregularity of pupil

• opacity of lens of eye (cataracts)
• blindness
• abnormal teeth
• unusual appearing skin lesions on cheeks, upper lip and around eyes

Other symptoms may include:

• mental retardation
• seizures
• skeletal (limb) abnormalities

Signs and tests:

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

Physical examination and testing may show cataracts, bone cysts in the jaw, hydrocephalus, calcification of falx (mineral deposits in the brain or other tissues), and multiple bony abnormalities.

Tests may include:

• skin lesion biopsy (biopsy of tumors to determine that they are basal cell carcinoma)
• X-ray of the skull, jaw, or other bone to determine the extent and type of bony abnormality