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Genetics of Skin Cancer (PDQ®)

  • Posted: 07/29/2009
  • Updated: 07/18/2014

Table 1. Comparison of Diagnostic Criteria for Basal Cell Nevus Syndrome (BCNS)

Evans et al. 1993 [71] Kimonis et al. 1997 [72] Veenstra-Knol et al. 2005 [73] 
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 cystHistologically proven odontogenic keratocystHistologically 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 calcificationsBilamellar calcification of faux cerebriEctopic calcification (lamellar or early faux cerebri)
Family history of BCNSFirst-degree relative with BCNSFamily history of BCNS
(Rib abnormalities listed as minor criterion; see below.) Bifid, fused, or splayed ribsBifid, fused, or splayed ribs
Minor Criteria
Occipital-frontal circumference >97th percentile and frontal bossingMacrocephaly (adjusted for height)Macrocephaly (>97th percentile)
Congenital skeletal abnormalities: bifid, fused, splayed, or missing rib or bifid, wedged, or fused vertebraeBridging 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 feetBridging 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 fibromaOvarian fibromaCardiac or ovarian fibroma
MedulloblastomaMedulloblastomaMedulloblastoma
Congenital malformation: cleft lip and/or palate, polydactyly, cataract, coloboma, microphthalmiaCleft lip or palate, frontal bossing, moderate or severe hypotelorismCleft lip and/or palate, polydactyly
Sprengel deformity, marked pectus deformity, marked syndactylySprengel 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.[71-73]
BCC = basal cell carcinoma.

References

  1. 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]

  2. 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]

  3. 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]