Table 3.

Diagnostic criteria for nevoid basal cell carcinoma syndrome

Major criteria

Basal cell carcinoma before 20 years of age or excessive numbers of basal cell carcinomas out of proportion to prior sun exposure and skin type

Odontogenic keratocyst before 20 years of age

Palmar or plantar pitting

Lamellar calcification of the falx cerebri

Medulloblastoma, typically desmoplastic

First degree relative with nevoid basal cell carcinoma syndrome

Minor criteria

Rib abnormalities

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

Macrocephaly

Cleft lip or palate

Ovarian or cardiac fibroma

Lymphomesenteric cysts

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

Adapted from Bree and Shah [48]

Requirement for diagnosis Two major diagnostic criteria and one minor diagnostic criterion, or One major and three minor diagnostic criteria, or Identification of a heterozygous germline PTCH1 or SUFU pathogenic variant on molecular genetic testing