Table 2 Diagnostic criteria for NBCCS [11]

Major criteria

    1. BCCs before 20 years of age or excessive numbers of BCCs out of proportion to prior sun exposure and skin type

    2. KCOTs before 20 years of age

    3. Palmar or plantar pits

    4. Lamellar calcification of the falx cerebri

    5. Medulloblastoma, typically desmoplastic

    6. First degree relative with NBCCS

Minor criteria

    1. Rib abnormalities

    2. Other specific skeletal malformations and radiologic changes (i.e., vertebral anomalies, kyphoscoliosis, short fourth metacarpals, postaxial polydactyly)

    3. Macrocephaly

    4. Cleft lip or palate

    5. Ovarian or cardiac fibroma

    6. Lymphomesenteric cysts

    7. Ocular abnormalities (i.e., strabismus, hypertelorism, congenital cataracts, glaucoma, coloboma)