Basal cell nevus syndrome

Definition:

Basal cell nevus syndrome (BCNS) is a rare autosomal dominant disorder that predisposes to tumor formation especially basal cell carcinomas associated with developmental abnormalities such as odontogenic keratocyst of the mandible, calcification of the falx cerebri, multiple nevi, and skeletal anomalies. The genetic basis of the syndrome is defective hedgehog signaling pathway.

References:

[1]. Alanna F Bree, et al. Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS). Am J Med Genet A. 2011 Sep;155A(9):2091-7. [Content Brief]

[2]. Chiaki Takahashi, et al. Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients. J Hum Genet. 2009 Jul;54(7):403-8. [Content Brief]

[3]. Jae Wan Go, et al. Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma. Ann Dermatol. 2011 Sep;23 Suppl 1(Suppl 1):S36-40. [Content Brief]

[4]. L Pastorino, et al. Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A. 2009 Jul;149A(7):1539-43. [Content Brief]

[5]. Z Fan, et al. A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family. J Med Genet. 2008 May;45(5):303-8. [Content Brief]

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