Table 1. Comparison of Diagnostic Criteria for Basal Cell Nevus Syndrome (BCNS)
| Evans et al. 1993 [69] | Kimonis et al. 1997 [70] | Veenstra-Knol et al. 2005 [71] |
| 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 |
| Histologically proven odontogenic keratocyst or polyostotic bone cyst | Histologically proven odontogenic keratocyst | Histologically proven odontogenic keratocyst |
| ≥3 palmar or plantar pits | ≥3 palmar or plantar pits | ≥3 palmar or plantar pits |
| Ectopic calcifications, lamellar or early (diagnosed before age 20 y) faux calcifications | Bilamellar calcification of faux cerebri | Ectopic calcification (lamellar or early faux cerebri) |
| Family history of BCNS | First-degree relative with BCNS | Family history of BCNS |
| (Rib abnormalities listed as minor criterion; see below.) | Bifid, fused, or splayed ribs | Bifid, fused, or splayed ribs |
| Minor Criteria | ||
| Occipital-frontal circumference >97th percentile and frontal bossing | Macrocephaly (adjusted for height) | Macrocephaly (>97th percentile) |
| 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 |
| (Rib abnormalities listed as major criterion; see above.) | (Rib abnormalities listed as major criterion; see above.) | |
| Cardiac or ovarian fibroma | Ovarian fibroma | Cardiac or ovarian fibroma |
| Medulloblastoma | Medulloblastoma | Medulloblastoma |
| 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 |
| Sprengel deformity, marked pectus deformity, marked syndactyly | Sprengel deformity, marked pectus deformity, marked syndactyly | |
| Lymphomesenteric cysts | ||
| Eye anomaly: cataract, coloboma, microphthalmia | ||
| aTwo major criteria or one major and two minor criteria needed to meet the requirements for a BCNS diagnosis.[69-71] | ||
| BCC = basal cell carcinoma. |
References
- Evans DG, Ladusans EJ, Rimmer S, et al.: Complications of the naevoid basal cell carcinoma syndrome: results of a population based study. J Med Genet 30 (6): 460-4, 1993. [PUBMED Abstract]
- Kimonis VE, Goldstein AM, Pastakia B, et al.: Clinical manifestations in 105 persons with nevoid basal cell carcinoma syndrome. Am J Med Genet 69 (3): 299-308, 1997. [PUBMED Abstract]
- Veenstra-Knol HE, Scheewe JH, van der Vlist GJ, et al.: Early recognition of basal cell naevus syndrome. Eur J Pediatr 164 (3): 126-30, 2005. [PUBMED Abstract]
