Nevoid Basal Cell Carcinoma Syndrome - Diagnostic Criteria

Diagnostic Criteria

Diagnosis of NBCCS is made by having 2 major criteria or 1 major and 2 minor criteria.

The major criteria consist of the following:

1. more than 2 BCCs or 1 BCC in a person younger than 20 years;
2. odontogenic keratocysts of the jaw
3. 3 or more palmar or plantar pits
4. ectopic calcification or early (<20 years) calcification of the falx cerebri
5. bifid, fused, or splayed ribs
6. first-degree relative with NBCCS.

The minor criteria include the following:

1. macrocephaly.
2. congenital malformations, such as cleft lip or palate, frontal bossing, eye anomaly (cataract, coloboma, microphtalmia, nystagmus).
3. other skeletal abnormalities, such as Sprengel deformity, pectus deformity, polydactyly, syndactyly or hypertelorism.
4. radiologic abnormalities, such as bridging of the sella turcica, vertebral anomalies, modeling defects or flame-shaped lucencies of hands and feet.
5. ovarian and cardio fibroma or medulloblastoma (the latter is generally found in children below the age of two).

People with NBCCS need education about the syndrome, and may need counseling and support, as coping with the multiple BCCs and multiple surgeries is often difficult. They should reduce UV light exposure, to minimize the risk of BCCs. They should also be advised that receiving Radiation therapy for their skin cancers may be contraindicated. They should look for symptoms referable to other potentially involved systems: the CNS, the genitourinary system, the cardiovascular system, and dentition.

Genetic counseling is advised for prospective parents, since one parent with NBCCS causes a 50% chance that their child will also be affected.