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 is a type of genetic tumor syndrome. Signs and symptoms include an increased risk for certain types of noncancerous and cancerous tumors, skin pits in the palms of the hands and soles of the feet, large head size, and bone abnormalities involving the spine, ribs, or skull. Nevoid basal cell carcinoma syndrome is caused by a mutation in the gene PTCH1.  It is inherited in an autosomal dominant fashion.
 

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: 7 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
Top

How do you compare to others with this condition?

Privately answer questions about your health. Let resources, you select, come to you.

Anonymously share and see how your answers compare with others with this condition while privately providing key pieces of information to medical researchers, disease advocacy groups, and others ONLY YOU select to help speed up cures and better alternatives.

 
 

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: 7 Mar 2013

View Details

 

General Support Organizations

Not finding the support you need? Show General Support Organizations

 
 
 
 
Top

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 28 free, full-text research articles on human participants. First 3 results:

Nevoid basal cell carcinoma syndrome (Gorlin-Goltz syndrome). Case report.
 

Author(s): G Fini, E Belli, E Mici, P Virciglio, L M Moricca, L D'Itri, A Leonardi, M S Malavenda, D Krizzuk, R Merola, A Maturo, V Pasta

Journal: G Chir. ;34(5-6):176-9.

 

Gorlin-Goltz syndrome or nevoid basal cell carcinoma syndrome (NBCCS) comprises multiple basal cell carcinomas, keratocysts of the jaw, palmar/plantar pits, spine and rib anomalies, calcifications of the falx cerebri etc. The diagnosis is made according to clinical criteria (Kimonis ...

Last Updated: 10 Jul 2013

Go To URL
Novel PTCH1 mutations in patients with keratocystic odontogenic tumors screened for nevoid basal cell carcinoma (NBCC) syndrome.
 

Author(s): Lorenza Pastorino, Annamaria Pollio, Giovanni Pellacani, Carmelo Guarneri, Paola Ghiorzo, Caterina Longo, William Bruno, Francesca Giusti, Sara Bassoli, Giovanna Bianchi-ScarrĂ , Cristel Ruini, Stefania Seidenari, Aldo Tomasi, Giovanni Ponti

Journal: PLoS ONE. 2012 ;7(8):e43827.

 

Keratocystic odontogenic tumors (KCOTs) are cystic tumors that arise sporadically or associated with nevoid basal cell carcinoma syndrome (NBCCS). NBCCS is a rare autosomal dominantly inherited disease mainly characterized by multiple basal cell carcinomas, KCOTs of the jaws and a ...

Last Updated: 6 Sep 2012

Go To URL
Situs inversus in a patient with nevoid basal cell carcinoma syndrome: a histogenetic relationship?
 

Author(s): Monika Gupta, Debdutta Das, Amit Mittal, Harkamal Kaur, Aayush Malhotra

Journal: J Oral Sci. 2011 Jun;53(2):253-6.

 

Nevoid basal cell carcinoma syndrome (NBCCS) is an uncommon autosomal dominant inherited disorder with high penetrance and variable expressivity. It affects multiple organ systems, including the stomatological, skeletal, skin, eye, reproductive, and central nervous systems. It is ...

Last Updated: 29 Jun 2011

Go To URL

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

Go To URL
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

Go To URL
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

Go To URL
 
 
Top

Clinical Trial Information This information is provided by ClinicalTrials.gov

There are currently no open clinical trials for this condition.