From: Genetics of Skin Cancer (PDQ®)
PDQ Cancer Information Summaries [Internet].
Bethesda (MD): National Cancer Institute (US); 2002-.
NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.
Table 1. Comparison of Diagnostic Criteria for Basal Cell Nevus Syndrome (BCNS)
| Evans et al. 1993 [49] | Kimonis et al. 1997 [50] | Veenstra-Knol et al. 2005 [51] | BCNS Colloquium Group 2011b [52] |
|---|---|---|---|
| Major Criteriaa | |||
| >2 BCCs or 1 BCC diagnosed before age 30 y or >10 basal cell nevi | >2 BCCs or 1 BCC diagnosed before age 20 y | >2 BCCs or 1 BCC diagnosed before age 20 y | BCC before age 20 y or excessive number of BCCs out of proportion with previous skin exposure and skin type |
| Histologically proven odontogenic keratocyst or polyostotic bone cyst | Histologically proven odontogenic keratocyst | Histologically proven odontogenic keratocyst | Odontogenic keratocyst of jaw before age 20 y |
| ≥3 palmar or plantar pits | ≥3 palmar or plantar pits | ≥3 palmar or plantar pits | Palmar or plantar pitting |
| Ectopic calcifications, lamellar or early (diagnosed before age 20 y) faux calcifications | Bilamellar calcification of faux cerebri | Ectopic calcification (lamellar or early faux cerebri) | Lamellar calcification of falx cerebri |
| Family history of BCNS | First-degree relative with BCNS | Family history of BCNS | First-degree relative with BCNS |
| (Rib abnormalities listed as minor criterion; see below.) | Bifid, fused, or splayed ribs | Bifid, fused, or splayed ribs | (Rib abnormalities listed as minor criterion; see below.) |
| (Medulloblastoma listed as minor criterion; see below.) | (Medulloblastoma listed as minor criterion; see below.) | (Medulloblastoma listed as minor criterion; see below.) | Medulloblastoma (usually desmoplastic) |
| Minor Criteria | |||
| Occipital-frontal circumference >97th percentile and frontal bossing | Macrocephaly (adjusted for height) | Macrocephaly (>97th percentile) | Macrocephaly |
| Congenital skeletal abnormalities: bifid, fused, splayed, or missing rib or bifid, wedged, or fused vertebrae | Bridging of sella turcica, vertebral abnormalities (hemivertebrae, fusion or elongation of vertebral bodies), modeling defects of the hands and feet, or flame-shaped lucencies of hands and feet | Bridging of sella turcica, vertebral abnormalities (hemivertebrae, fusion or elongation of vertebral bodies), modeling defects of the hands and feet | Skeletal malformations (vertebral, short 4th metacarpals, postaxial polydactyly) |
| (Rib abnormalities listed as major criterion; see above.) | (Rib abnormalities listed as major criterion; see above.) | Rib abnormalities | |
| Cardiac or ovarian fibroma | Ovarian fibroma | Cardiac or ovarian fibroma | Cardiac or ovarian fibroma |
| Medulloblastoma | Medulloblastoma | Medulloblastoma | (Medulloblastoma listed as major criterion; see above.) |
| Congenital malformation: cleft lip and/or palate, polydactyly, cataract, coloboma, microphthalmia | Cleft lip or palate, frontal bossing, moderate or severe hypotelorism | Cleft lip and/or palate, polydactyly | Cleft lip or palate |
| Sprengel deformity, marked pectus deformity, marked syndactyly | Sprengel deformity, marked pectus deformity, marked syndactyly | ||
| Lymphomesenteric cysts | Lymphomesenteric cysts | ||
| Eye anomaly: cataract, coloboma, microphthalmia | Ocular abnormalities (strabismus, hypertelorism, Congenital cataracts, coloboma) | ||
BCC = basal cell carcinoma.
bDiagnosis is based on one major criterion with molecular diagnosis, two major criteria without molecular diagnosis, or one major and two minor criteria without molecular diagnosis.[52]