Nevoid basal cell carcinoma syndrome

Common Name(s)

Nevoid basal cell carcinoma syndrome, Basal Cell Carcinoma Nevus Syndrome, Gorlin-Goltz Syndrome, Gorlin Syndrome

Nevoid basal cell carcinoma syndrome (NBCCS) is a condition that increases the risk to develop various cancerous and noncancerous tumors. The most common cancer diagnosed in affected people is basal cell carcinoma, which often develops during adolescence or early adulthood. People with NBCCS may also have benign jaw tumors called keratocystic odontogenic tumors. Other tumors that may occur include medulloblastomas, and fibromas in the heart or ovaries. Additional features in people with NBCCS may include skin pits on the hands and feet; large head size (macrocephaly); and/or bone abnormalities of the spine, ribs, or skull. NBCCS is inherited in an autosomal dominant manner and is caused by mutations in the PTCH1 gene.
 

Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nevoid basal cell carcinoma syndrome" for support, advocacy or research.

Basal Cell Carcinoma Nevus Syndrome Life Support Network

Mission: To provide educational and supportive services to persons affected with the manifestations of Basal Cell Carcinoma Nevus Syndrome, (a.k.a. Gorlin Syndrome; Gorlin Goltz Syndrome); together with their families, healthcare professionals and caregivers; while creating a networked community in order to live optimally, empowered with knowledge and self esteem. We seek to raise awareness, and find a cure!

Last Updated: 29 Apr 2014

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Nevoid basal cell carcinoma syndrome" for support, advocacy or research.

Basal Cell Carcinoma Nevus Syndrome Life Support Network

Mission: To provide educational and supportive services to persons affected with the manifestations of Basal Cell Carcinoma Nevus Syndrome, (a.k.a. Gorlin Syndrome; Gorlin Goltz Syndrome); together with their families, healthcare professionals and caregivers; while creating a networked community in order to live optimally, empowered with knowledge and self esteem. We seek to raise awareness, and find a cure!

http://www.gorlinsyndrome.org

Last Updated: 29 Apr 2014

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Nevoid basal cell carcinoma syndrome" returned 34 free, full-text research articles on human participants. First 3 results:

Novel patched 1 mutations in patients with nevoid basal cell carcinoma syndrome--case report.
 

Author(s): Vesna Škodrić-Trifunović, Mihailo Stjepanović, Živorad Savić, Miroslav Ilić, Ivana Kavečan, Jadranka Jovanović Privrodski, Vesna Spasovski, Maja Stojiljković, Sonja Pavlović

Journal: Croat. Med. J.. 2015 Feb;56(1):63-7.

 

Nevoid basal cell carcinoma syndrome (Gorlin syndrome) is a rare autosomal dominant disorder characterized by numerous basal cell carcinomas, keratocystic odontogenic tumors of the jaws, and diverse developmental defects. This disorder is associated with mutations in tumor suppressor ...

Last Updated: 2 Mar 2015

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[Nevoid basal cell carcinoma syndrome with corpus callosum agenesis, PTCH1 mutation and absence of basal cell carcinoma].
 

Author(s): Luis D Mazzuoccolo, María Florencia Martínez, Carolina Muchnik, Pablo J Azurmendi, Fernando Stengel

Journal: Medicina (B Aires). 2014 ;74(4):307-10.

 

Nevoid Basal Cell Carcinoma Syndrome (NBCCS) or Gorlin-Goltz syndrome is a rare autosomal dominant disorder, mainly due to PTCH1 gene mutations, that comprises a broad spectrum of clinical manifestations. The presence of multiple basal cell carcinomas (BCCs) is a cardinal sign in ...

Last Updated: 5 Sep 2014

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Multiple nevoid basal cell carcinoma syndrome associated with congenital orbital teratoma, caused by a PTCH1 frameshift mutation.
 

Author(s): A L Rodrigues, A Carvalho, R Cabral, V Carneiro, P Gilardi, C P Duarte, J Puente-Prieto, P Santos, L Mota-Vieira

Journal:

 

Gorlin-Goltz syndrome, or nevoid basal cell carcinoma syndrome (NBCCS), is a rare autosomal dominant disorder caused by mutations in the PTCH1 gene and shows a high level of penetrance and variable expressivity. The syndrome is characterized by developmental abnormalities or neoplasms ...

Last Updated: 13 Aug 2014

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Nevoid basal cell carcinoma syndrome" returned 4 free, full-text review articles on human participants. First 3 results:

Nevoid basal cell carcinoma syndrome.
 

Author(s): Marie Leger, Adelle Quintana, Julia Tzu, Herman Yee, Hideko Kamino, Miguel Sanchez

Journal:

 

Gorlin syndrome is an autosomal dominantly inherited disorder that results in numerous basal cell carcinomas as well as a number of other facial and skeletal findings. We present a patient with many classic features and review some of the treatment options available for these patients.

Last Updated: 27 Oct 2011

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Nevoid basal cell carcinoma syndrome (Gorlin syndrome).
 

Author(s): Lorenzo Lo Muzio

Journal:

 

Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome, is a hereditary condition characterized by a wide range of developmental abnormalities and a predisposition to neoplasms. The estimated prevalence varies from 1/57,000 to 1/256,000, with a male-to-female ...

Last Updated: 25 Dec 2008

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Nevoid Basal cell carcinoma syndrome with medulloblastoma and meningioma--case report.
 

Author(s): Yutaka Fukushima, Hidehiro Oka, Satoshi Utsuki, Kazuhisa Iwamoto, Kiyotaka Fujii

Journal: Neurol. Med. Chir. (Tokyo). 2004 Dec;44(12):665-8.

 

A 35-year-old man presented with a rare case of nevoid basal cell carcinoma syndrome, or Gorlin's syndrome, associated with both medulloblastoma and meningioma, manifesting as visual field constriction due to multiple parasellar tumors. He had undergone resection of a medulloblastoma ...

Last Updated: 1 Feb 2005

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Clinical Trial Information This information is provided by ClinicalTrials.gov

Photodynamic Therapy Using Blue Light or Red Light in Treating Basal Cell Carcinoma in Patients With Basal Cell Nevus Syndrome
 

Status: Not yet recruiting

Condition Summary: Basal Cell Carcinoma of the Skin; Nevoid Basal Cell Carcinoma Syndrome

 

Last Updated: 24 Aug 2015

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Erismodegib and Buparlisib in Treating Patients With Advanced or Metastatic Basal Cell Carcinoma
 

Status: Recruiting

Condition Summary: Basal Cell Carcinoma of the Skin; Nevoid Basal Cell Carcinoma Syndrome; Recurrent Skin Cancer

 

Last Updated: 13 Feb 2015

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Blue vs Red Light During Levulan Based Photodynamic Therapy in Patients With Basal Cell Nevus Syndrome
 

Status: Not yet recruiting

Condition Summary: Basal Cell Nevus Syndrome

 

Last Updated: 18 Aug 2015

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