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!

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

Proteomic analysis of PTCH1+/- fibroblast lysate and conditioned culture media isolated from the skin of healthy subjects and nevoid basal cell carcinoma syndrome patients.
 

Author(s): Giovanni Ponti, Giorgia Bertazzoni, Lorenza Pastorino, Emanuela Monari, Aurora Cuoghi, Stefania Bergamini, Elisa Bellei, Luisa Benassi, Paola Azzoni, Tiziana Petrachi, Cristina Magnoni, Giovanni Pellacani, Pietro Loschi, Annamaria Pollio, Alexander Michael Witkowski, Aldo Tomasi

Journal: Biomed Res Int. 2013 ;2013():794028.

 

The pathogenesis underlying the increased predisposition to the development of basal cell carcinomas (BCCs) in the context of Gorlin-Goltz syndrome is linked to molecular mechanisms that differ from sporadic BCCs. Patients with Gorlin syndrome tend to develop multiple BCCs at an early ...

Last Updated: 25 Dec 2013

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Recurrence of keratocyst in nevoid basal cell carcinoma syndrome: A major diagnostic dilemma for clinicians.
 

Author(s): Anurag Gupta, Suraj Suvarna, Gagan Khanna, Sukant Sahoo

Journal: J Cancer Res Ther. ;9(3):543-4.

 

The odontogenic keratocysts (OKC) usually represent a particular entity that has been of interest primarily due to biological aggressiveness and to its frequent recurrence. Nevoid basal cell carcinoma syndrome (NBCCS), also known as Gorlin syndrome is a hereditary condition characterized ...

Last Updated: 15 Oct 2013

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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

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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: 3 Oct 2014

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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: 4 Jun 2014

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