basal cell nevus syndrome

Summary

Summary: Hereditary disorder consisting of multiple basal cell carcinomas, odontogenic keratocysts, and multiple skeletal defects, e.g., frontal and temporoparietal bossing, bifurcated and splayed ribs, kyphoscoliosis, fusion of vertebrae, and cervicothoracic spina bifida. Genetic transmission is autosomal dominant.

Top Publications

  1. Epstein E. Basal cell carcinomas: attack of the hedgehog. Nat Rev Cancer. 2008;8:743-54 pubmed publisher
    ..Importantly, a phase 1 first-in-human trial of a Hedgehog inhibitor has shown real progress in halting and even reversing the growth of these tumours. ..
  2. Olivieri C, Maraschio P, Caselli D, Martini C, Beluffi G, Maserati E, et al. Interstitial deletion of chromosome 9, int del(9)(9q22.31-q31.2), including the genes causing multiple basal cell nevus syndrome and Robinow/brachydactyly 1 syndrome. Eur J Pediatr. 2003;162:100-3 pubmed
    ..Thus the efforts to identify the genes included in a deletion are worthy as they may result in better care of the patient as, in this case, monitoring the possible development of tumours associated with NBCCS. ..
  3. Ahn S, Lim Y, Kim D, Kim S, Lee S, Yoon J. Nevoid basal cell carcinoma syndrome: a retrospective analysis of 33 affected Korean individuals. Int J Oral Maxillofac Surg. 2004;33:458-62 pubmed
    ..The frequencies of the minor criteria concur in general with the ranges given by some others. It is concluded that these differences may be attributed to genetic and geographic differences. ..
  4. Friedrich R. Diagnosis and treatment of patients with nevoid basal cell carcinoma syndrome [Gorlin-Goltz syndrome (GGS)]. Anticancer Res. 2007;27:1783-7 pubmed
    ..The NBCC is a well-known syndrome with a variety of findings inside and outside the head and neck region. Interdisciplinary cooperation is mandatory in the diagnosis and follow-up control of patients with NBCC. ..
  5. Shear M. The aggressive nature of the odontogenic keratocyst: is it a benign cystic neoplasm? Part 2. Proliferation and genetic studies. Oral Oncol. 2002;38:323-31 pubmed
    ..Sporadic OKCs might arise from susceptible cells in which two somatic mutations or 'hits' have occurred, one of which manifests as allelic loss. The loss of tumour suppressor genes supports the view that the OKC is a benign neoplasm. ..
  6. Wilson C, Murphy M. Conservative management of multiple keratocystic odontogenic tumours in a child with Gorlin-Goltz syndrome: a case report. Eur J Paediatr Dent. 2008;9:195-8 pubmed
    ..The recommendations regarding the management of keratocystic odontogenic tumour (KCOT) vary widely in the literature. The authors highlight that conservative surgical management should still be considered in some cases...
  7. Zedan W, Robinson P, Markham A, High A. Expression of the Sonic Hedgehog receptor "PATCHED" in basal cell carcinomas and odontogenic keratocysts. J Pathol. 2001;194:473-7 pubmed
    ..The pattern of PTCH expression matched the PTCH transcript pattern previously reported in BCCs and appeared sufficiently characteristic in OKs to allow differentiation between syndromic and non-syndromic cysts. ..
  8. Fujii K, Kohno Y, Sugita K, Nakamura M, Moroi Y, Urabe K, et al. Mutations in the human homologue of Drosophila patched in Japanese nevoid basal cell carcinoma syndrome patients. Hum Mutat. 2003;21:451-2 pubmed
    ..The difference in the detection rate of PTCH mutations among NBCCS between previous reports and ours is due to the difference either in ethnicity or in the detection methods. ..
  9. Hahn H, Wojnowski L, Zimmer A, Hall J, Miller G, Zimmer A. Rhabdomyosarcomas and radiation hypersensitivity in a mouse model of Gorlin syndrome. Nat Med. 1998;4:619-22 pubmed
    ..This suggests a role for ptc in the response to ionizing radiation and provides a model for both the systemic (developmental) and stochastic (cancer) abnormalities observed in Gorlin syndrome. ..

More Information

Publications88

  1. Lee Y, Roh B, Ki C, Park Y, Shin H, Lee Y, et al. Identification of a novel mutation in the PTCH gene in a Korean family with naevoid basal cell carcinoma syndrome. Clin Exp Dermatol. 2007;32:202-3 pubmed
  2. Lo Muzio L, Nocini P, Bucci P, Pannone G, Consolo U, Procaccini M. Early diagnosis of nevoid basal cell carcinoma syndrome. J Am Dent Assoc. 1999;130:669-74 pubmed
    ..The presence of multiple OKCs in a child or onset of BCC in a patient younger than 20 years of age should alert dentists to the possibility of the patient's having NBCCS. ..
  3. Snider R. Unusual presentation of a third ventricular cyst in a patient with basal cell nevus syndrome. Pediatr Dermatol. 1994;11:323-6 pubmed
    ..I report a case of a third ventricular cyst causing unusual symptoms in a 16-year-old boy. The discussion includes a review of the various neurologic signs and symptoms in this syndrome. ..
  4. Gorlin R. Nevoid basal cell carcinoma (Gorlin) syndrome. Genet Med. 2004;6:530-9 pubmed
  5. Giuliani M, Di Stefano L, Zoccali G, Angelone E, Leocata P, Mascaretti G. Gorlin syndrome associated with basal cell carcinoma of the vulva: A case report. Eur J Gynaecol Oncol. 2006;27:519-22 pubmed
    ..In this article a typical Gorlin syndrome case associated with basal cell carcinoma of the vulva is described. ..
  6. Minami M, Urano Y, Ishigami T, Tsuda H, Kusaka J, Arase S. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. J Dermatol Sci. 2001;27:21-6 pubmed
    ..Genetic analysis of the PTCH gene is essential for the early, definitive diagnosis of NBCCS, especially before the expression of clinical manifestations is complete. ..
  7. Midro A, Panasiuk B, Tumer Z, Stankiewicz P, Silahtaroglu A, Lupski J, et al. Interstitial deletion 9q22.32-q33.2 associated with additional familial translocation t(9;17)(q34.11;p11.2) in a patient with Gorlin-Goltz syndrome and features of Nail-Patella syndrome. Am J Med Genet A. 2004;124A:179-91 pubmed
    The phenotype of Gorlin-Goltz syndrome or basal cell nevus syndrome (BCNS, #109400, OMIM), a Mendelian trait due to PTCH mutations has been reported in a few cases of interstitial deletion of chromosome 9q...
  8. Boutet N, Bignon Y, Drouin Garraud V, Sarda P, Longy M, Lacombe D, et al. Spectrum of PTCH1 mutations in French patients with Gorlin syndrome. J Invest Dermatol. 2003;121:478-81 pubmed
    ..One microdeletion without frameshift underlines the importance of one amino acid for Ptc receptor function. Although no mutation hot-spot was described, we identified a recurrent mutation. ..
  9. Campbell R, Mader R, Dufresne R. Meningiomas after medulloblastoma irradiation treatment in a patient with basal cell nevus syndrome. J Am Acad Dermatol. 2005;53:S256-9 pubmed
    A 23-year-old woman with basal cell nevus syndrome (BCNS), or Gorlin's syndrome, was given the diagnosis at age 2 years of a medulloblastoma that was resected and treated postoperatively with craniospinal irradiation...
  10. Kijima C, Miyashita T, Suzuki M, Oka H, Fujii K. Two cases of nevoid basal cell carcinoma syndrome associated with meningioma caused by a PTCH1 or SUFU germline mutation. Fam Cancer. 2012;11:565-70 pubmed publisher
  11. Pastorino L, Cusano R, Nasti S, Faravelli F, Forzano F, Baldo C, et al. Molecular characterization of Italian nevoid basal cell carcinoma syndrome patients. Hum Mutat. 2005;25:322-3 pubmed
    ..3168+5G>A, c.1526G>T [p.G509V], and c.3499G>A [p.G1167R]). None of the patients with multiple Basal Cell Carcinoma but no other criteria for the syndrome, carried germline coding region mutations. ..
  12. Boonen S, Stahl D, Kreiborg S, Rosenberg T, Kalscheuer V, Larsen L, et al. Delineation of an interstitial 9q22 deletion in basal cell nevus syndrome. Am J Med Genet A. 2005;132A:324-8 pubmed
    b>Basal cell nevus syndrome (Gorlin syndrome) is an autosomal dominant disorder characterized by the presence of multiple basal cell carcinomas (BCC), odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused ..
  13. Oro A, Higgins K, Hu Z, Bonifas J, Epstein E, Scott M. Basal cell carcinomas in mice overexpressing sonic hedgehog. Science. 1997;276:817-21 pubmed
    Mutations in the tumor suppressor gene PATCHED (PTC) are found in human patients with the basal cell nevus syndrome, a disease causing developmental defects and tumors, including basal cell carcinomas...
  14. Evans D, Farndon P, Burnell L, Gattamaneni H, Birch J. The incidence of Gorlin syndrome in 173 consecutive cases of medulloblastoma. Br J Cancer. 1991;64:959-61 pubmed
    ..Those at high risk of developing multiple invasive basal cell carcinomata will then be identified. ..
  15. Brellier F, Valin A, Chevallier Lagente O, Gorry P, Avril M, Magnaldo T. Ultraviolet responses of Gorlin syndrome primary skin cells. Br J Dermatol. 2008;159:445-52 pubmed publisher
  16. Kantarci M, Ertas U, Alper F, Sutbeyaz Y, Karasen R, Onbas O. Gorlin's syndrome with a thin corpus callosum and a third ventricular cyst. Neuroradiology. 2003;45:390-2 pubmed
    ..We present a case of this syndrome with special emphasis on its unusual neuroradiological findings and radiological management...
  17. Su C, Lin K, Hou J, Jung S, Zen E. Spontaneous recovery from a medulloblastoma by a female with Gorlin-Goltz syndrome. Pediatr Neurol. 2003;28:231-4 pubmed
    ..This patient with Gorlin-Goltz syndrome had a good prognosis with regard to the medulloblastoma. Diagnosis of the syndrome should be made as early as possible to avoid aggressive radiotherapy that may induce basal cell carcinomas. ..
  18. Ibrahimi O, Sakamoto F, Tannous Z, Anderson R. 755?nm alexandrite laser for the reduction of tumor burden in basal cell Nevus syndrome. Lasers Surg Med. 2011;43:68-71 pubmed publisher
    b>Basal Cell Nevus syndrome (BCNS) is characterized by numerous basal cell carcinomas (BCCs)...
  19. Amlashi S, Riffaud L, Brassier G, Morandi X. Nevoid basal cell carcinoma syndrome: relation with desmoplastic medulloblastoma in infancy. A population-based study and review of the literature. Cancer. 2003;98:618-24 pubmed
    ..The desmoplastic subtype of MB is associated most commonly with NBCCS. The goals of this study were to demonstrate the relation between desmoplastic MB and NBCCS and to evaluate the concomitant diagnosis of NBCCS and MB...
  20. Stockfleth E, Ulrich C, Hauschild A, Lischner S, Meyer T, Christophers E. Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5% imiquimod. Eur J Dermatol. 2002;12:569-72 pubmed
    ..Patients were successfully cleared of BCCs after treatment for 6-8 weeks. Histologically no apparent signs of BCC-persistence could be detected and no recurrences were detected during the 12 month follow up period...
  21. González Alva P, Tanaka A, Oku Y, Yoshizawa D, Itoh S, Sakashita H, et al. Keratocystic odontogenic tumor: a retrospective study of 183 cases. J Oral Sci. 2008;50:205-12 pubmed
    ..Pathological examination of KCOT is important to avoid misdiagnosis and provide appropriate treatment and follow-up...
  22. Johnson R, Rothman A, Xie J, Goodrich L, Bare J, Bonifas J, et al. Human homolog of patched, a candidate gene for the basal cell nevus syndrome. Science. 1996;272:1668-71 pubmed
    The basal cell nevus syndrome (BCNS) is characterized by developmental abnormalities and by the postnatal occurrence of cancers, especially basal cell carcinomas (BCCs), the most common human cancer...
  23. Lopes N, Caran E, Lee M, Silva N, Rocha A, Macedo C. Gorlin-Goltz syndrome and neoplasms: a case study. J Clin Pediatr Dent. 2010;35:203-6 pubmed
    ..Various neoplasms, such as medulloblastomas, meningiomas, ovarian and cardiac fibromas are also found in this syndrome...
  24. Klein R, Dykas D, Bale A. Clinical testing for the nevoid basal cell carcinoma syndrome in a DNA diagnostic laboratory. Genet Med. 2005;7:611-9 pubmed
    ..This study determines which clinical features predict positive test results among samples submitted for DNA-based diagnostic nevoid basal cell carcinoma syndrome (NBCCS) testing, and further defines the mutational spectrum of the PTCH gene...
  25. Manfredi M, Vescovi P, Bonanini M, Porter S. Nevoid basal cell carcinoma syndrome: a review of the literature. Int J Oral Maxillofac Surg. 2004;33:117-24 pubmed
    ..The present report reviews current knowledge of this disorder that has profound relevance to specialists in Oral and Maxillo-Facial Surgery, Oral Medicine and Radiology...
  26. Karthiga K, Sivapatha Sundharam B, Manikandan R. Nevoid basal cell carcinoma syndrome. Indian J Dent Res. 2006;17:50-3 pubmed
    ..NBCCS is characterized by variety of cutaneous, dental, osseous, opthalmic, neurologic and sexual abnormalities. One such case of Gorlin-Goltz syndrome is reported here with good illustrations...
  27. Díaz Fernández J, Infante Cossio P, Belmonte Caro R, Ruiz Laza L, Garcia Perla Garcia A, Gutierrez Perez J. Basal cell nevus syndrome. Presentation of six cases and literature review. Med Oral Patol Oral Cir Bucal. 2005;10 Suppl 1:E57-66 pubmed
    b>Basal cell nevus syndrome, also known as Gorlin-Goltz syndrome, is an autosomal dominant inherited disorder which is characterised by the presence of multiple maxillary keratocysts and facial basal cell carcinomas, along with other less ..
  28. Savino M, D Apolito M, Formica V, Baorda F, Mari F, Renieri A, et al. Spectrum of PTCH mutations in Italian nevoid basal cell-carcinoma syndrome patients: identification of thirteen novel alleles. Hum Mutat. 2004;24:441 pubmed
    ..Except for p.T230P and p.F505_L506delinsLR, all the other mutations are predicted to determine a premature truncation of the protein...
  29. Haniffa M, Leech S, Lynch S, Simpson N. NBCCS secondary to an interstitial chromosome 9q deletion. Clin Exp Dermatol. 2004;29:542-4 pubmed
    ..The NBCCS phenotype in our patient occurred as a result of PTCH1 deletion in contrast with an inherited mutation of this gene...
  30. Lo Muzio L, Staibano S, Pannone G, Bucci P, Nocini P, Bucci E, et al. Expression of cell cycle and apoptosis-related proteins in sporadic odontogenic keratocysts and odontogenic keratocysts associated with the nevoid basal cell carcinoma syndrome. J Dent Res. 1999;78:1345-53 pubmed
  31. Sasaki K, Yoshimoto T, Nakao T, Minagawa K, Takahashi Y, Watanabe Y, et al. [A nevoid basal cell carcinoma syndrome with chromosomal aberration]. No To Hattatsu. 2000;32:49-55 pubmed
    ..31. He had generalized tonic-clonic seizures, which were well controlled. Since the gene for NBCCS was recently mapped to chromosome 9q22.3, we suspected that the deletion site in this patient was responsible for his symptoms of NBCCS...
  32. Gu X, Zhao H, Sun L, Li T. PTCH mutations in sporadic and Gorlin-syndrome-related odontogenic keratocysts. J Dent Res. 2006;85:859-63 pubmed
  33. Leonardi R, Sorge G, Caltabino M. Bilateral hyperplasia of the mandibular coronoid processes associated with the nevoid basal cell carcinoma syndrome in an Italian boy. Br Dent J. 2001;190:349-50 pubmed
  34. Lo Muzio L. Nevoid basal cell carcinoma syndrome (Gorlin syndrome). Orphanet J Rare Dis. 2008;3:32 pubmed publisher
    ..Regular follow-up by a multi-specialist team (dermatologist, neurologist and odontologist) should be offered. Patients with NBCCS should strictly avoid an excessive sun exposure...
  35. Mougel F, Debarbieux S, Ronger Savle S, Dalle S, Thomas L. Methylaminolaevulinate photodynamic therapy in patients with multiple basal cell carcinomas in the setting of Gorlin-Goltz syndrome or after radiotherapy. Dermatology. 2009;219:138-42 pubmed publisher
    ..Photodynamic therapy (PDT) is increasingly used as an alternative treatment for superficial and in some countries nodular basal cell carcinomas (BCC)...
  36. Sasaki R, Miyashita T, Matsumoto N, Fujii K, Saito K, Ando T. Multiple keratocystic odontogenic tumors associated with nevoid basal cell carcinoma syndrome having distinct PTCH1 mutations: a case report. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2010;110:e41-6 pubmed publisher
    ..The Ki-67 labeling index was significantly higher in the maxillary KCOT (17.7%) than in the mandibular KCOT (14.3%). These findings indicate distinct molecular mechanisms of tumorigenesis in these KCOTs...
  37. Wilson L, Ajayi Obe E, Bernhard B, Maas S. Patched mutations and hairy skin patches: a new sign in Gorlin syndrome. Am J Med Genet A. 2006;140:2625-30 pubmed
    ..We believe that the patches represent a genuine physical sign associated with Gorlin syndrome, and discuss molecular mechanisms by which they might arise...
  38. Choudry Q, Patel H, Gurusinghe N, Evans D. Radiation-induced brain tumours in nevoid basal cell carcinoma syndrome: implications for treatment and surveillance. Childs Nerv Syst. 2007;23:133-6 pubmed
    ..We report two cases of radiation-induced intracranial tumours after treatment for medulloblastoma presenting in children with nevoid basal cell carcinoma syndrome...
  39. Pastorino L, Pollio A, Pellacani G, Guarneri C, Ghiorzo P, Longo C, et al. Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome. PLoS ONE. 2012;7:e43827 pubmed publisher
    ..Keratocystic odontogenic lesions are uncommon, and their discovery deserves the search for associated cutaneous basal cell carcinomas and other benign and malignant tumors related to NBCCS...
  40. Nouri K, Chang A, Trent J, Jimenez G. Ultrapulse CO2 used for the successful treatment of basal cell carcinomas found in patients with basal cell nevus syndrome. Dermatol Surg. 2002;28:287-90 pubmed
    b>Basal cell nevus syndrome (BCNS) is an inherited condition marked by multiple basal cell carcinomas (BCCs) associated with several other abnormalities. Various treatment modalities have been used to eradicate these tumors...
  41. Woolgar J, Rippin J, Browne R. The odontogenic keratocyst and its occurrence in the nevoid basal cell carcinoma syndrome. Oral Surg Oral Med Oral Pathol. 1987;64:727-30 pubmed
    ..The term multiple cysts refers to the lifetime history of the patient and does not necessarily imply that more than one cyst is present at any one time...
  42. Tate G, Li M, Suzuki T, Mitsuya T. A new germline mutation of the PTCH gene in a Japanese patient with nevoid basal cell carcinoma syndrome associated with meningioma. Jpn J Clin Oncol. 2003;33:47-50 pubmed
    ..Direct sequence analyses revealed a novel single base deletion at nucleotide 2613 in exon 16 (2613delC) in one PTCH allele, resulting in the frame shift and the introduction of a premature termination codon in this mutated allele...
  43. Lo Muzio L, Nocini P, Savoia A, Consolo U, Procaccini M, Zelante L, et al. Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals. Clin Genet. 1999;55:34-40 pubmed
    ..A future search based on mutation screening might establish a possible genotype phenotype correlation in Italian patients...
  44. Kulkarni P, Brashear R, Chuang T. Nevoid basal cell carcinoma syndrome in a person with dark skin. J Am Acad Dermatol. 2003;49:332-5 pubmed
  45. Micali G, Lacarrubba F, Nasca M, De Pasquale R. The use of imiquimod 5% cream for the treatment of basal cell carcinoma as observed in Gorlin's syndrome. Clin Exp Dermatol. 2003;28 Suppl 1:19-23 pubmed
    ..Imiquimod 5% cream successfully treated 13 out of 17 BCCs in these patients with Gorlin's syndrome, with no patient suffering a relapse at the follow-up visit...
  46. Acocella A, Sacco R, Bertolai R, Sacco N. Genetic and clinicopathologic aspects of Gorlin-Goltz syndrome (NBCCS): presentation of two case reports and literature review. Minerva Stomatol. 2009;58:43-53 pubmed
    ..Furthermore, due to the predisposition of the disease to relapse, a constant clinical follow-up combined with a correct treatment are important...
  47. Smucker P, Smith J. Multifocal desmoplastic medulloblastoma in an african-american child with nevoid basal cell carcinoma (gorlin) syndrome. Case report. J Neurosurg. 2006;105:315-20 pubmed
  48. Pan S, Li T. PTCH1 mutations in odontogenic keratocysts: are they related to epithelial cell proliferation?. Oral Oncol. 2009;45:861-5 pubmed publisher
    ..These results suggest that PTCH1 mutations, particularly those causing protein truncations, are associated with a subgroup of OKCs showing increased proliferative activity and thus may relate to a phenotype of higher recurrent tendency...
  49. Richards F, Goudie D, Cooper W, Jene Q, Barroso I, Wicking C, et al. Mapping the multiple self-healing squamous epithelioma (MSSE) gene and investigation of xeroderma pigmentosum group A (XPA) and PATCHED (PTCH) as candidate genes. Hum Genet. 1997;101:317-22 pubmed
    ..Although no mutation has been detected in MSSE families, PTCH has not been excluded as the MSSE gene...
  50. Soufir N, Gerard B, Portela M, Brice A, Liboutet M, Saiag P, et al. PTCH mutations and deletions in patients with typical nevoid basal cell carcinoma syndrome and in patients with a suspected genetic predisposition to basal cell carcinoma: a French study. Br J Cancer. 2006;95:548-53 pubmed
    ..In other clinical situations that suggest genetic predisposition to BCC, germline mutations of PTCH are not common...
  51. Ferreres J, Macaya A, Jucgla A, Muniesa C, Prats C, Peyri J. Hundreds of basal cell carcinomas in a Gorlin-Goltz syndrome patient cured with imiquimod 5% cream. J Eur Acad Dermatol Venereol. 2006;20:877-8 pubmed
  52. Ramaglia L, Morgese F, Pighetti M, Saviano R. Odontogenic keratocyst and uterus bicornis in nevoid basal cell carcinoma syndrome: case report and literature review. Oral Surg Oral Med Oral Pathol Oral Radiol Endod. 2006;102:217-9 pubmed
    ..However, further research is needed to confirm the association between NBCCS and mullerian fusion defects and to assess the hypothesis that focuses on chromosome 9 the mutant gene for NBCCS and fusion defects of female genital tract...
  53. Lindström E, Shimokawa T, Toftgard R, Zaphiropoulos P. PTCH mutations: distribution and analyses. Hum Mutat. 2006;27:215-9 pubmed
    ..Moreover, the types of mutations were also unique for the different groups. Finally, the PTCH gene harbors mutational hot spot residues and regions, including a slippage-sensitive sequence in the N-terminus...
  54. Vereecken P, Monsieur E, Petein M, Heenen M. Topical application of imiquimod for the treatment of high-risk facial basal cell carcinoma in Gorlin syndrome. J Dermatolog Treat. 2004;15:120-1 pubmed
  55. Veenstra Knol H, Scheewe J, van der Vlist G, van Doorn M, Ausems M. Early recognition of basal cell naevus syndrome. Eur J Pediatr. 2005;164:126-30 pubmed
    ..We describe three unrelated children with basal cell naevus syndrome who appeared to be the first patient in each family...
  56. Fukushima Y, Oka H, Utsuki S, Iwamoto K, Fujii K. Nevoid Basal cell carcinoma syndrome with medulloblastoma and meningioma--case report. Neurol Med Chir (Tokyo). 2004;44:665-8 pubmed
    ..Meningioma is known to occur in the field of therapeutic irradiation, so chemotherapy may be a better option for medulloblastoma associated with nevoid basal cell carcinoma syndrome...
  57. Hahn H, Wicking C, Zaphiropoulous P, Gailani M, Shanley S, Chidambaram A, et al. Mutations of the human homolog of Drosophila patched in the nevoid basal cell carcinoma syndrome. Cell. 1996;85:841-51 pubmed
    ..We propose that a reduction in expression of the patched gene can lead to the developmental abnormalities observed in the syndrome and that complete loss of patched function contributes to transformation of certain cell types...
  58. Suzuki M, Hatsuse H, Nagao K, Takayama Y, Kameyama K, Kabasawa Y, et al. Selective haploinsufficiency of longer isoforms of PTCH1 protein can cause nevoid basal cell carcinoma syndrome. J Hum Genet. 2012;57:422-6 pubmed publisher
    ..Although mice selectively deficient in PTCHS isoforms are currently unavailable, this study sheds light on the complex in vivo roles of PTCH1 isoforms...
  59. Gailani M, Bale S, Leffell D, DiGiovanna J, Peck G, Poliak S, et al. Developmental defects in Gorlin syndrome related to a putative tumor suppressor gene on chromosome 9. Cell. 1992;69:111-7 pubmed
    ..In contrast, hemizygous germline mutations lead to multiple congenital anomalies...
  60. Takanashi J, Fujii K, Takano H, Sugita K, Kohno Y. Empty sella syndrome in nevoid basal cell carcinoma syndrome. Brain Dev. 2000;22:272-4 pubmed
    ..Calcification of the diaphragma sellae, which is a protective barrier against the pulsating action of the cerebrospinal fluid, may cause the empty sella in NBCCS...
  61. Tanioka M, Takahashi K, Kawabata T, Kosugi S, Murakami K, Miyachi Y, et al. Germline mutations of the PTCH gene in Japanese patients with nevoid basal cell carcinoma syndrome. Arch Dermatol Res. 2005;296:303-8 pubmed
    ..No phenotype-genotype relationships were found in the Japanese NBCCS patients, consistent with results of previous studies on NBCCS in African-American and Caucasian patients...
  62. Genevieve D, Walter E, Gorry P, Jacquemont M, Dupic L, Layet V, et al. Gorlin syndrome presenting as prenatal chylothorax in a girl. Prenat Diagn. 2005;25:997-9 pubmed
    ..We discuss the clinical features observed in this family and we comment on the molecular studies that allowed us to describe a previously unreported Patched gene mutation...
  63. Querings K, Reichrath J. A plea for the analysis of Vitamin-D levels in patients under photoprotection, including patients with xeroderma pigmentosum (XP) and basal cell nevus syndrome (BCNS). Cancer Causes Control. 2004;15:219 pubmed
  64. Seracchioli R, Colombo F, Bagnoli A, Trengia V, Venturoli S. Primary ovarian leiomyosarcoma as a new component in the nevoid basal cell carcinoma syndrome: a case report. Am J Obstet Gynecol. 2003;188:1093-5 pubmed
    ..This report first shows the association of ovarian leiomyosarcoma with NBCC, expanding the complex nature of this syndrome...
  65. Wang S, Goldberg L. Multiple polypoid basal cell carcinomas on the perineum of a patient with basal cell nevus syndrome. J Am Acad Dermatol. 2007;57:S36-7 pubmed
    We present a case report of a patient with basal cell nevus syndrome (BCNS) who developed multiple polypoid basal cell carcinomas (PBCC) in the perineum. PBCC is a rare variant of nodular BCCs. Clinically, PBCCs mimic acrochordons...
  66. Sun L, Li X, Li T. PTCH1 and SMO gene alterations in keratocystic odontogenic tumors. J Dent Res. 2008;87:575-9 pubmed
    ..However, no pathogenic mutation was detected in SMO. Our findings suggest that mutations are rare in SMO, but frequent in PTCH1 in sporadic and NBCCS-associated KCOTs...
  67. Ly J. Scintigraphic findings in Gorlin's syndrome. Clin Nucl Med. 2002;27:913-4 pubmed
  68. Pastorino L, Ghiorzo P, Nasti S, Battistuzzi L, Cusano R, Marzocchi C, et al. Identification of a SUFU germline mutation in a family with Gorlin syndrome. Am J Med Genet A. 2009;149A:1539-43 pubmed publisher
    ..1022 + 1G>A SUFU germ line splicing mutation in a family that was PTCH1-negative and who had signs and symptoms of GS, including medulloblastoma. This is the first report of a germ line SUFU mutation associated with GS...
  69. Cowan R, Hoban P, Kelsey A, Birch J, Gattamaneni R, Evans D. The gene for the naevoid basal cell carcinoma syndrome acts as a tumour-suppressor gene in medulloblastoma. Br J Cancer. 1997;76:141-5 pubmed
    ..Information from these families would suggest that Gorlin syndrome is more common than previously recognized and may not always be diagnosed on clinical grounds alone even in middle life...
  70. Dixit S, Acharya S, Dixit P. Multiple odontogenic keratocysts associated with Gorlin-Goltz syndrome. Kathmandu Univ Med J (KUMJ). 2009;7:414-8 pubmed
    ..A case of this rare disease seen on a 13 year old female patient is presented here, where multiple odontogenic keratocysts were causing disfigurement of the lower jaw as well as displacement and malocclusion of the lower teeth...
  71. Scully C, Langdon J, Evans J. Marathon of eponyms: 7 Gorlin-Goltz syndrome (Naevoid basal-cell carcinoma syndrome). Oral Dis. 2010;16:117-8 pubmed publisher
    ..The information is based largely on data available from MEDLINE and a number of internet websites as noted below: the authors would welcome any corrections. This document summarizes data about Gorlin-Goltz syndrome...
  72. Lam C, Leung C, Lee K, Xie J, Lo F, Au T, et al. Novel mutations in the PATCHED gene in basal cell nevus syndrome. Mol Genet Metab. 2002;76:57-61 pubmed
    b>Basal cell nevus syndrome (BCNS) is an autosomal dominant disease characterized by the presence of multiple basal cell carcinomas, odontogenic keratocysts, palmoplantar pits, and calcification in the falx cerebri caused by mutational ..
  73. Fujii K, Ishikawa S, Uchikawa H, Komura D, Shapero M, Shen F, et al. High-density oligonucleotide array with sub-kilobase resolution reveals breakpoint information of submicroscopic deletions in nevoid basal cell carcinoma syndrome. Hum Genet. 2007;122:459-66 pubmed
    ..This method will contribute to the understanding of molecular pathogenesis of gene deletions as well as rapid genetic testing...
  74. Bitar G, Herman C, Dahman M, Hoard M. Basal cell nevus syndrome: guidelines for early detection. Am Fam Physician. 2002;65:2501-4 pubmed
    b>Basal cell nevus syndrome is an autosomal dominant condition with complete penetrance and variable expressivity...
  75. Pauliks L, Miller S, Banerjee A. Intracardiac fibroma in nevoid-basal cell carcinoma (gorlin) syndrome: tissue characterization by strain rate imaging. Echocardiography. 2006;23:79-80 pubmed
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