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:

Networked: 233 relevant articles (6 outcomes, 21 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1.	Basal Cell Carcinoma (Rodent Ulcer)
2.	Xeroderma Pigmentosum (Kaposi's Disease)
3.	Breast Neoplasms (Breast Cancer)
4.	Odontogenic Cysts (Keratocyst)
5.	Neoplasms (Cancer)

Experts

1.	Bickers, David R: 4 articles (03/2014 - 03/2004)
2.	Epstein, Ervin H: 4 articles (03/2014 - 03/2004)
3.	Friedrich, Reinhard E: 3 articles (12/2014 - 07/2007)
4.	Aszterbaum, Michelle: 3 articles (03/2014 - 01/2010)
5.	Tang, Jean Y: 3 articles (03/2014 - 01/2010)
6.	Gilchrest, Barbara A: 3 articles (10/2009 - 07/2004)
7.	Allan, Ernest: 3 articles (11/2006 - 06/2005)
8.	Loncaster, Juliette A: 3 articles (11/2006 - 06/2005)
9.	Fujii, Katsunori: 2 articles (02/2015 - 07/2012)
10.	Smith, Miriam J: 2 articles (12/2014 - 09/2014)

Drugs and Biologics

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

1.	RetinoidsIBA 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). " 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. " 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. "
2.	1-phenyl-3,3-dimethyltriazene (PDT)IBA 05/01/2014 - "MAL-PDT is safe and effective in patients with Gorlin syndrome. " 05/01/2014 - "The experts considered MAL-PDT a generally effective and safe therapy for treatment of BCC in Gorlin syndrome. " 05/01/2014 - "The Gorlin consensus panel was comprised of 7 dermatologists who had treated a total of 83 patients with Gorlin syndrome using MAL-PDT. " 05/01/2014 - "To establish consensus recommendations for the use of MAL-PDT in patients with Gorlin syndrome. " 08/01/2009 - "PDT can be considered as a treatment option for patients with multiple BCCs as a result of Gorlin syndrome. "
3.	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." 01/01/1987 - "Two patients with multiple basal cell carcinomas, due either to the nevoid basal cell carcinoma syndrome (NBCCS) or arsenical insecticide exposure, were treated with oral isotretinoin for 7 or 8 years, respectively. " 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). " 04/01/1982 - "Three patients with multiple basal cell carcinomas, due either to excessive sunlight exposure, the nevoid basal cell carcinoma syndrome, or arsenical insecticide exposure, were treated with oral isotretinoin for 2 1/2 to 4 years. "
4.	imiquimod (Aldara)FDA LinkGeneric 09/01/2002 - "Imiquimod 5% cream is an effective therapeutic option for both sBCC and nBCC in patients with basal cell nevus syndrome. " 09/01/2002 - "To evaluate the efficacy, safety and compliance of imiquimod 5% cream for the treatment of sBCCs and nodular BCCs (nBCCs) in patients affected by basal cell nevus syndrome. " 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. " 04/01/2004 - "Topical application of imiquimod for the treatment of high-risk facial basal cell carcinoma in Gorlin syndrome." 11/01/2002 - "Successful treatment of basal cell carcinomas in a nevoid basal cell carcinoma syndrome with topical 5% imiquimod."
5.	EtretinateFDA Link 08/01/1989 - "Nevoid basal cell carcinoma syndrome: combined etretinate and surgical treatment." 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. " 11/01/1987 - "Etretinate treatment of the nevoid basal cell carcinoma syndrome. " 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)." 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. "
6.	AcitretinFDA 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. "
7.	Peptide Hydrolases (Proteases)IBA 07/01/2008 - "Furthermore, the presence of these proteases at higher levels in SOKCs may help to explain increased OKC aggressiveness associated with nevoid basal cell carcinoma syndrome."
8.	Gorlin-Goltz SyndromeIBA 01/01/1990 - "[Kinship studies in Gorlin-Goltz syndrome (basal cell nevus syndrome)]." 09/01/2015 - "In Indian scenario, Gorlin-Goltz syndrome (nevoid basal cell carcinoma syndrome [NBCCS]) has been rarely reported. " 07/01/2015 - "Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)." 01/01/2015 - "Gorlin-Goltz syndrome, also known as nevoid basal cell carcinoma syndrome, is caused by genetic alteration produced by a mutation in the 'patched' tumour suppressor gene, and is inherited in a dominant autosomal way. " 12/01/2014 - "Ponticulus posticus is a frequent radiographic finding on lateral cephalograms in nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome)."
9.	DNA (Deoxyribonucleic Acid)IBA 11/01/2005 - "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. " 08/01/2006 - "PCR-SSCP and DNA sequencing were used to analyze the PTCH gene mutations in 12 OKCs, including 10 sporadic and 2 nevoid basal cell carcinoma syndrome (NBCCS) associated OKC. " 10/15/2005 - "Down-regulation of SMT3A gene expression in association with DNA synthesis induction after X-ray irradiation in nevoid basal cell carcinoma syndrome (NBCCS) cells." 08/01/2002 - "This article reviews 1) the structure of the nucleotide, 2) the methods of DNA sequencing, and 3) its recent clinical application in analysis of the nevoid basal cell carcinoma syndrome." 11/17/1997 - "DNA synthesis activity was examined in fibroblasts and isolated nuclei derived from patients with nevoid basal cell carcinoma syndrome (NBCCS) upon exposure to X-ray and ultraviolet (UV). "
10.	Aminolevulinic Acid (Levulan)FDA Link 07/01/2004 - "We report treatment of two nevoid basal cell carcinoma syndrome patients, women aged 21 and 47, with 20%delta-aminolevulinic acid solution and 417-nm blue light source (irradiance 10 mW/cm(2)). " 10/01/2003 - "DNA damage and repair in Gorlin syndrome and normal fibroblasts after aminolevulinic acid photodynamic therapy: a comet assay study." 07/01/2004 - "To our knowledge this is the first use of photodynamic therapy with delta-aminolevulinic acid with 417-nm blue light for treatment of multiple basal cell carcinomas in patients with nevoid basal cell carcinoma syndrome. " 07/01/2004 - "delta-Aminolevulinic acid and blue light photodynamic therapy for treatment of multiple basal cell carcinomas in two patients with nevoid basal cell carcinoma syndrome." 07/01/2004 - "Further studies are needed to confirm that broad-area photodynamic therapy with delta-aminolevulinic acid may eradicate subclinical tumors in nevoid basal cell carcinoma syndrome sufferers, as suggested by a strikingly decreased incidence of new basal cell carcinomas in our patients."

Therapies and Procedures

1.	Photochemotherapy (Photodynamic Therapy) 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." 04/01/2005 - "[Photodynamic therapy for a nevoid basal cell carcinoma syndrome]." 08/01/2009 - "Efficacy of photodynamic therapy as a treatment for Gorlin syndrome-related basal cell carcinomas."
2.	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. "
3.	Aftercare (After-Treatment) 01/01/2007 - "We report two cases of radiation-induced intracranial tumours after treatment for medulloblastoma presenting in children with nevoid basal cell carcinoma syndrome. " 01/01/1984 - "Study of basal cell nevus syndrome fibroblasts after treatment with DNA-damaging agents." 01/01/1988 - "Genetic instability in nevoid basal cell carcinoma syndrome (NBCCS) was investigated by measuring in lymphocytes obtained from four patients the level of UV-induced DNA repair synthesis, the DNA replication rate after treatment with different mutagens (UV light, mono- and bifunctional alkylating agents), the baseline mutation frequency, and the spontaneous chromosome breakage. "
4.	Mohs Surgery (Mohs' Micrographic Surgery) 03/01/2009 - "Mohs surgery using a formalin-fixed tissue technique (slow Mohs) was used to treat 1090 basal cell carcinomas (BCCs) occurring in 1000 patients without Gorlin syndrome in a prospective, open nonrandomized trial of therapy carried out in a university dermatology department. "
5.	Radiotherapy 12/01/1987 - "An unusual case of nevoid basal cell carcinoma syndrome involving treatment with radiotherapy." 01/01/2015 - "Due to radio-hypersensitivity in Gorlin syndrome, avoidance of treatment by radiotherapy is strongly recommended for all affected individuals. " 02/01/2004 - "Loss-of-function mutations in Patched (Ptch1) are implicated in constitutive activation of the Sonic hedgehog pathway in human basal cell carcinomas (BCCs), and inherited Ptch1 mutations underlie basal cell nevus syndrome in which a typical feature is multiple BCC occurring with greater incidence in portals of radiotherapy. " 01/01/1996 - "Having rejected other possible causes that can favor the appearance of basal cell carcinoma during childhood (basal cell nevus syndrome, nevus sebaceus, albinism, etc.), we believe that this case should be added to the five previously reported in the literature as basal cell carcinoma developing at an early age in cranial radiation portals with megavoltage radiotherapy. " 07/01/2005 - "Nevoid basal cell carcinoma syndrome associated with unilateral renal agenesis: acceleration of basal cell carcinomas following radiotherapy."