Basal cell nevus syndrome;
Nevoid basal cell carcinoma syndrome;
Gorlin syndrome

Basal cell nevus syndrome 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.

Skin and connective tissue disease

PTCH1 [HSA:5727] [KO:K06225]
PTCH2 [HSA:8643] [KO:K11101]
SUFU [HSA:51684] [KO:K06229]

PMID:21834049

Bree AF, Shah MR

Consensus statement from the first international colloquium on basal cell nevus syndrome (BCNS).

Am J Med Genet A 155A:2091-7 (2011)
DOI:10.1002/ajmg.a.34128

PMID:19557015

Takahashi C, Kanazawa N, Yoshikawa Y, Yoshikawa R, Saitoh Y, Chiyo H, Tanizawa T, Hashimoto-Tamaoki T, Nakano Y

Germline PTCH1 mutations in Japanese basal cell nevus syndrome patients.

J Hum Genet 54:403-8 (2009)
DOI:10.1038/jhg.2009.55

PMID:18285427

Fan Z, Li J, Du J, Zhang H, Shen Y, Wang CY, Wang S

A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family.

J Med Genet 45:303-8 (2008)
DOI:10.1136/jmg.2007.055343

PMID:19533801

Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, Garre ML, Clementi M, Scarra GB

Identification of a SUFU germline mutation in a family with Gorlin syndrome.

Am J Med Genet A 149A:1539-43 (2009)
DOI:10.1002/ajmg.a.32944

PMID:20875327

Shivaswamy KN, Sumathy TK, Shyamprasad AL, Ranganathan C

Gorlin syndrome or basal cell nevus syndrome (BCNS): A case report.

Dermatol Online J 16:6 (2010)

PMID:22028568

Go JW, Kim SH, Yi SY, Cho HK

Basal cell nevus syndrome showing several histologic types of Basal cell carcinoma.

Ann Dermatol 23 Suppl 1:S36-40 (2011)
DOI:10.5021/ad.2011.23.S1.S36