Basal Cell Nevus Syndrome (Gorlin Syndrome)

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.

Also Known As:

Gorlin Syndrome; Nevoid Basal Cell Carcinoma Syndrome; Syndrome, Gorlin; Fifth Phacomatosis; Gorlin-Goltz Syndrome; Multiple Basal Cell Nevi, Odontogenic Keratocysts, and Skeletal Anomalies; NBCCS; Fifth Phacomatoses; Gorlin Goltz Syndrome; Syndrome, Gorlin-Goltz; Nevus Syndrome, Basal Cell

Networked: 358 relevant articles (23 outcomes, 46 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Basal Cell Carcinoma (Rodent Ulcer)
2.	Basal Cell Nevus Syndrome (Gorlin Syndrome)
3.	Xeroderma Pigmentosum (Kaposi's Disease)
4.	Neoplasms (Cancer)
5.	Medulloblastoma

Experts

1.	Bickers, David R: 9 articles (01/2018 - 03/2004)
2.	Fujii, Katsunori: 8 articles (02/2021 - 04/2003)
3.	Tang, Jean Y: 8 articles (09/2019 - 01/2010)
4.	Miyashita, Toshiyuki: 7 articles (02/2021 - 04/2003)
5.	Epstein, Ervin H: 7 articles (12/2016 - 03/2004)
6.	Uchikawa, Hideki: 5 articles (02/2021 - 12/2007)
7.	Mosterd, Klara: 5 articles (01/2021 - 01/2013)
8.	Magnaldo, Thierry: 5 articles (01/2019 - 01/2009)
9.	Aszterbaum, Michelle: 5 articles (12/2016 - 01/2010)
10.	Shiohama, Tadashi: 4 articles (02/2021 - 12/2013)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Basal Cell Nevus Syndrome:

1.	HhAntag691IBA 09/15/2014 - "Clinical trials with the SMO inhibitor, vismodegib, showed remarkable efficacy in patients with NBCCS, which finally led to its FDA approval in 2012." 01/01/2022 - "Long-term efficacy of a Vismodegib regime including a 1-week drug holiday every month in two patients with Gorlin Goltz syndrome." 01/01/2021 - "This study evaluates the effectiveness of vismodegib for the treatment of laBCC, mBCC and basal cell nevus syndrome (BCNS) patients, and the tumour characteristics associated with a higher probability of achieving a complete response in the Netherlands. " 07/01/2018 - "The full European approval of vismodegib was based on the results of two phase II, open-label, noncomparative, international trials (ERIVANCE BCC and STEVIE), both of which showed high rates of tumour control in the indicated patient populations, including individuals with or without Gorlin syndrome. " 10/01/2023 - "GDC-0449 could be used to treat OKCs, especially NBCCS-related OKCs with PTCH1 truncated mutations. "
2.	1-phenyl-3,3-dimethyltriazene (PDT)IBA 05/01/2014 - "MAL-PDT is safe and effective in patients with Gorlin syndrome. " 07/01/2011 - "The aim of the study was to evaluate patient's satisfaction, cosmetic outcome and number of surgical excisions before and after PDT, in patients with basal cell nevus syndrome treated with PDT. " 01/01/2009 - "To study the safety and efficiency of PDT in NBCCS. " 12/02/2023 - "In particular, PDT may be considered an adjuvant for the prevention and treatment of BCC lesions in patients with some genetic syndromes such as Gorlin syndrome, and in combination with surgical excision in lesions presenting in certain locations. " 01/01/2021 - "Red-light ALA-PDT proved to be a good therapeutic method for NBCCS in this case."
3.	Imiquimod (Aldara)FDA LinkGeneric 11/01/2002 - "We report three cases of multiple BCCs in Gorlin-Goltz syndrome treated with topical 5% imiquimod cream, an immune response modifier. " 09/01/2002 - "Imiquimod 5% cream is an effective therapeutic option for both sBCC and nBCC in patients with basal cell nevus syndrome. " 09/01/2007 - "After obtaining informed consent, 17 nBCCs on 15 patients were included in this institutional review board-approved, open-label study with initial treatment using curettage without electrodesiccation followed by once-daily application of imiquimod 5% cream 5 times per week for 6 weeks. " 08/01/2006 - "Hundreds of basal cell carcinomas in a Gorlin-Goltz syndrome patient cured with imiquimod 5% cream." 06/01/2000 - "The purpose of this study is to examine the effectiveness, tolerability, and desirability of imiquimod 5% cream in treating superficial non-facial basal cell carcinomas in a patient with basal cell nevus syndrome. "
4.	RetinoidsIBA 10/01/1984 - "Aromatic retinoid in the chemoprevention of the progression of nevoid basal-cell carcinoma syndrome." 08/01/1989 - "Aromatic retinoids have been shown to be useful in the management of various genodermatoses, including nevoid basal cell carcinoma syndrome (NBCCS). " 01/01/2003 - "Retinoids have been used for the treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, and in patients with recurrent skin cancers as a result of immunosuppression for renal transplantation. " 01/18/2010 - "Retinoids have been used for years as monotherapy and/or in combination for treatment and suppression of cutaneous malignancies in patients with basal cell nevus syndrome, xeroderma pigmentosum, or cutaneous T-cell lymphoma (CTCL) basal cell carcinoma (BCC). " 10/01/1984 - "The authors reviewed the literature and here report their experience in the treatment of nevoid basal-cell carcinoma syndrome with aromatic retinoid etretinate (RO 10-9359; Tigason)."
5.	sonidegibIBA 01/01/2022 - "Treatment with sonidegib 200 mg/day led to remission in both patients with locally advanced BCC within 7 months and to a reduction in the size and number of lesions after 4 months in the patient with Gorlin syndrome. " 08/01/2011 - "In a double-blind, randomized, vehicle-controlled, intraindividual study, a total of 8 NBCCS patients presenting 27 BCCs were treated twice daily with 0.75% LDE225 cream or vehicle for 4 weeks. " 01/01/2022 - "This report describes clinical experience with sonidegib in two patients with locally advanced BCC (one with a tumour adjacent to the right eye and the other with a tumour associated with the left ear) and in one patient with Gorlin syndrome. " 08/01/2011 - "Treatment with 0.75% LDE225 cream in NBCCS patients was very well tolerated and caused BCC regression, thus potentially offering an attractive therapeutic alternative to currently available therapies for this indication.JID JOURNAL CLUB ARTICLE: For questions, answers, and open discussion about this article, please go to http://www.nature.com/jid/journalclub." 01/01/2020 - "Efficacy and Safety of Sonidegib in Adult Patients with Nevoid Basal Cell Carcinoma Syndrome (Gorlin Syndrome): Results from a Phase 2, Double-Blind, Randomized Trial."
6.	Patched-1 ReceptorIBA 01/01/2016 - "This study indicates that germline PTCH1 heterozygous mutations play a major role in bone metabolism in patients with NBCCS, in particular in those with PTCH1 protein truncation mutations. " 08/01/2012 - "Patched homolog 1 gene mutation (p.G1093R) induces nevoid basal cell carcinoma syndrome and non-syndromic keratocystic odontogenic tumors: A case report." 06/01/2011 - "For example, hedgehog pathway studies of mutations in the patched homolog 1 (PTCH1) gene, which constitutively activates Smoothened (SMO), led to development of an oral SMO inhibitor active in advanced basal cell carcinoma and which, in very high-risk Gorlin syndrome patients (germ line PTCH1 mutation), is nearly completely clinically effective in intercepting basal cell neoplasia. " 08/01/2012 - "Mutations in the Patched homolog 1 (PTCH1) gene lead to an autosomal dominant disorder known as nevoid basal cell carcinoma syndrome (NBCCS) or Gorlin syndrome (GS). " 07/01/2012 - "These results clearly demonstrate that a selective haploinsufficiency of longer isoforms of the PTCH1 protein, PTCHL and PTCHM, but not PTCHS is sufficient to cause NBCCS. "
7.	Isotretinoin (Accutane)FDA LinkGeneric 01/01/1984 - "Later the basal cell nevus syndrome patient was given 13-cis-retinoic acid, which caused no liver test disturbances during a follow-up period of 6 months." 07/01/1989 - "Effectiveness of isotretinoin in preventing the appearance of basal cell carcinomas in basal cell nevus syndrome." 07/01/1981 - "Systemic retinoids are of little value in the treatment of premalignant and malignant cutaneous lesions though 13-cis-retinoic acid might be of use in the basal cell nevus syndrome. " 01/01/1996 - "Failure of interferon alfa and isotretinoin combination therapy in the nevoid basal cell carcinoma syndrome." 05/01/1984 - "When only patients with basal cell nevus syndrome ( BCNS ) or basal cell carcinoma (BCC) who had never received retinoid were compared with those who received isotretinoin, the frequency of the defined abnormalities was significantly higher in the treated group (P less than 0.01). "
8.	Etretinate FDA Link 08/01/1989 - "Nevoid basal cell carcinoma syndrome: combined etretinate and surgical treatment." 11/01/1987 - "Etretinate treatment of the nevoid basal cell carcinoma syndrome. " 11/01/1987 - "A patient suffering from the nevoid basal cell carcinoma syndrome, in whom various surgical and conservative treatment modalities had been tried previously, was placed on oral etretinate therapy. " 01/01/1984 - "A histologically confirmed, clinically inapparent and reversible hepatitis occurred in 2 patients (1 psoriasis, 1 basal cell nevus syndrome) within the first months after introduction of etretinate therapy. " 10/01/1984 - "The authors reviewed the literature and here report their experience in the treatment of nevoid basal-cell carcinoma syndrome with aromatic retinoid etretinate (RO 10-9359; Tigason)."
9.	AcidsIBA 01/01/2021 - "Improvement of Basal Cell Carcinomas in Patients with Nevoid Basal Cell Carcinoma Syndrome Following by 5-Aminolevulinic Acid Photodynamic Therapy: A Case Report." 12/01/2020 - "5-aminolevulinic acid photodynamic therapy and excision surgery for nevoid basal cell carcinoma syndrome with multiple basal cell carcinomas and PTCH1 mutation." 06/01/2005 - "An ultrasound analysis of the response of Gorlin syndrome-related and sporadic basal cell carcinomas to aminolaevulinic acid photodynamic therapy." 01/01/2005 - "Treatment of diffuse basal cell carcinomas and basaloid follicular hamartomas in nevoid basal cell carcinoma syndrome by wide-area 5-aminolevulinic acid photodynamic therapy." 02/01/2010 - "The authors report a case of a patient with NBCCS treated successfully with photodynamic therapy (PDT) using 20% 5-aminolevulinc acid and blue light. "
10.	Acitretin FDA Link 06/01/2013 - "Isotretinoin is preferred in xeroderma pigmentosum and nevoid basal cell carcinoma syndrome, whereas acitretin is more used in transplant recipients, psoriasis and severe sun damage. " 09/01/2006 - "Systemic retinoids (isotretinoin, etretinate, and acitretin) have been shown to be effective chemotherapeutic agents in studies of patients with xeroderma pigmentosum, the nevoid basal cell carcinoma syndrome, and recipients of organ or bone marrow transplantation. "

Therapies and Procedures

1.	Therapeutics 01/01/1984 - "Our results suggest that these therapies, at least for the nevoid-appearing lesions, may not be effective in the management of some patients with basal cell nevus syndrome." 06/01/2023 - "Thus, establishment of induced pluripotent stem cells derived from patients and healthy siblings of the same NBCCS family will be of great importance to study the etiology of this disease and to develop therapeutics. " 11/01/2022 - "Personalized management for Gorlin-Goltz Syndrome: Experience of combination therapy and our algorithm for treatment." 06/01/2020 - "We did not observe therapy resistance in our NBCCS group. " 06/01/2018 - "We examine the epidemiology of the disease and benefits of genetic testing, molecular pathophysiology, and advancement in the molecular-based therapy of Basal Cell Nevus syndrome. "
2.	Photochemotherapy (Photodynamic Therapy) 11/01/2022 - "A 10-year follow-up on the chemopreventive role of photodynamic therapy in a Gorlin syndrome patient." 12/01/2020 - "Multiple modalities including microwave ablation, photodynamic therapy, and excision surgery have a good respond to the NBCCS. " 04/01/2012 - "[Gorlin syndrome: photodynamic therapy, as a useful adjunct to surgery]." 07/01/2010 - "Photodynamic therapy for treatment of multiple lesions on the scalp in nevoid basal cell carcinoma syndrome: case report." 10/01/2009 - "Photodynamic therapy for patients with Basal cell nevus syndrome."
3.	Radiotherapy 03/01/2016 - "Radiotherapy in Gorlin Syndrome: Can It Be Safe and Effective in Adult Patients?" 02/01/1995 - "Clarification of the role of radiotherapy in the induction of BCCs in NBCCS requires additional studies. " 05/01/2014 - "It is necessary to remind clinicians that radiation therapy in Gorlin-Goltz syndrome is relatively contraindicated. " 10/01/2006 - "This is the first report of an African-American child with MB diagnosed with NBCCS prior to radiotherapy. " 01/01/2004 - "In our opinion, such results suggest the possibility of a cautious application of superficial radiotherapy in selected cases of NBCCS."
4.	Bone Marrow Transplantation (Transplantation, Bone Marrow) 09/01/2006 - "Systemic retinoids (isotretinoin, etretinate, and acitretin) have been shown to be effective chemotherapeutic agents in studies of patients with xeroderma pigmentosum, the nevoid basal cell carcinoma syndrome, and recipients of organ or bone marrow transplantation. "
5.	Decompression 12/01/2018 - "The decompression was found to be effective and reliable as a treatment of the OKC to decrease the recurrence tendency, even for Gorlin-Goltz syndrome." 01/01/2017 - "Conservative Treatment of Multiple Keratocystic Odontogenic Tumors in a Young Patient with Nevoid Basal Cell Carcinoma Syndrome by Decompression: A 7-year Follow-up Study." 12/18/2017 - "Therefore, 1) decompression did not increase the recurrence risk; 2) peripheral ostectomy demonstrated a similar efficacy as the combination with Carnoy's solution; 3) the association of NBCCS did not seem to significantly influence OKC recurrence; and 4) syndromic lesions seem to behave in the same manner as non-syndromic lesions when submitted to complementary treatments." 02/01/2017 - "Probability of recurrence: all lesions, 21.1%; nevoid basal cell carcinoma syndrome, 35.4%; males, 20.3%; females, 19.3%; maxilla, 15.3%; mandible, 21.5%; unilocular, 14.7%; multilocular, 24.4%; marsupialization/decompression, 28.7%; decompression + enucleation ± additional therapy, 18.6%; enucleation/curettage, 22.5%; enucleation + peripheral ostectomy, 18.6%; enucleation + Carnoy's solution, 5.3%; enucleation + cryotherapy, 20.9%; marginal/segmental resection, 2.2%. "