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Genetics of Skin Cancer (PDQ®): Genetics - Health Professional Information [NCI] - Basal Cell Carcinoma

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Other associated benign neoplasms include gastric hamartomatous polyps,[73]congenital pulmonary cysts,[74] cardiac fibromas,[75] meningiomas,[76,77] craniopharyngiomas,[78] fetal rhabdomyomas,[79] leiomyomas,[80] mesenchymomas,[81] and nasal dermoid tumors. Development of meningiomas and ependymomas occurring postradiation therapy has been documented in the general pediatric population; radiation therapy for syndrome-associated intracranial processes may be partially responsible for a subset of these benign tumors in individuals with BCNS.[82,83,84] Radiation therapy of medulloblastomas may result in many cutaneous BCCs in the radiation ports. Similarly, treatment of BCC of the skin with radiation therapy may result in induction of large numbers of additional BCCs.[62,63,80]

The diagnostic criteria for BCNS are described in Table 1 below.

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

Evans et al. 1993[66]Kimonis et al. 1997[67]Veenstra-Knol et al. 2005[68]
a Two major criteria or one major and two minor criteria needed to meet the requirements for a BCNS diagnosis.[66,67,68]
BCC = basal cell carcinoma.
Major Criteriaa
>2 BCCs or 1 BCC diagnosed before age 30 years or >10 basal cell nevi>2 BCCs or 1 BCC diagnosed before age 20 years>2 BCCs or 1 BCC diagnosed before age 20 years
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 years) 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

Of greatest concern with BCNS are associated malignant neoplasms, the most common of which is BCC. BCC in individuals with BCNS may appear during childhood as small acrochordon-like lesions, while larger lesions demonstrate more classic cutaneous features.[85] Nonpigmented BCCs are more common than pigmented lesions.[86] The age at first BCC diagnosis associated with BCNS ranges from 3 to 53 years, with a mean age of 21.4 years; the vast majority of individuals are diagnosed with their first BCC before age 20 years.[67,71] Most BCCs are located on sun-exposed sites, but individuals with greater than 100 BCCs have a more uniform distribution of BCCs over the body.[86] Case series have suggested that up to 1 in 200 individuals with BCC demonstrate findings supportive of a diagnosis of BCNS.[56] BCNS has rarely been reported in individuals with darker skin pigmentation; however, significantly fewer BCCs are found in individuals of African or Mediterranean ancestry.[67,87,88] Despite the rarity of BCC in this population, reported cases document full expression of the noncutaneous manifestations of BCNS.[88] However, in individuals of African ancestry who have received radiation therapy, significant basal cell tumor burden has been reported within the radiation port distribution.[67,80] Thus, cutaneous pigmentation may protect against the mutagenic effects of UV but not ionizing radiation.

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WebMD Public Information from the National Cancer Institute

Last Updated: February 25, 2014
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