Gorlin syndrome (GS) is a genodermatosis characterized by multiple Basal cell nevus syndrome; Gorlin-Goltz syndrome; NBCCS; Nevoid basal cell carcinoma. 1 Jun Gorlin-Goltz syndrome, also known as nevoid basal cell carcicoma syndrome, comes into being due to a genetic .. Síndrome de Gorlin-Goltz. PDF | The major features of the nevoid basal-cell carcinoma syndrome are epidermal multiple celi carcinomas, cysts of the jaws and skeletal abnormalities, .

Author: Zuluhn Zolojinn
Country: Burkina Faso
Language: English (Spanish)
Genre: Automotive
Published (Last): 2 February 2005
Pages: 327
PDF File Size: 10.33 Mb
ePub File Size: 14.65 Mb
ISBN: 806-9-74998-310-7
Downloads: 31853
Price: Free* [*Free Regsitration Required]
Uploader: Monos

Only comments seeking to improve the quality and accuracy of golrin on the Orphanet website are accepted. Genetic counseling Transmission is autosomal dominant, with high penetrance and variable expressivity. Goldstein AM, Pastakia B, et al.

J Am Acad Dermatol ;16 5 Pt 1: Int J Oral Maxillofac Surg.

Individuals with the syndrome are sensitive to ionizing radiation, with one study showing accumulation of p53 in exposed cells 3. Content is updated monthly with systematic literature reviews and conferences. Genetic transmission is autosomal dominant. Nevoid basal cell carcinoma syndrome: Pauline Lyrio Ribeiro, R. It is an autosomal dominant syndrome with complete penetrance and variable expressivity. We report a typical case in a year-old man with multiple basal cell carcinomas, keratotic pits of palmar creases and bifid ribs, with a history of several corrective surgeries for keratocystic odontogenic tumors, among other lesions characteristic of the syndrome.

Syndrome in question: Gorlin-Goltz syndrome

Save my name, email, and website in this browser for the next time I comment. Utilizziamo i cookie per offrirti i migliori contenuti del nostro sito.

Marsupialization zindrome odontogenic keratocysts: Related links to external sites from Bing. Unden AB, Holmberg E, et al.

Concludendo, il nostro caso dimostra come la sindrome di Gorlin Goltz sia un quadro patologico complesso, che necessita di un corretto inquadramento diagnostico e di una collaborazione interdisciplinare per la gestione di tutti gli aspetti patologici che la caratterizzano.

Gorlin Syndrome.

A year follow-up of cases in Ottawa and the Ottawa Valley. Multiple nevoid basal-cell epithelioma, jaw cysts and bifid rib. A predisposition to other malignancies such as medulloblastoma, meningioma, papillary fibroelastoma of the heart, ovarian fibroma commonly bilateral and calcifiedfibrosarcoma, nephroblastoma see these terms is observed.

Basal Cell Nevus Syndrome C The major criteria are: Only comments written in English can be processed. Detailed information Professionals Summary information Greekpdf Suomipdf Review article English Diagnostic criteria Englishpdf Guidance for genetic testing Englishpdf Clinical genetics review English This is an Open Access article distributed under the terms of the Creative Commons Attribution Non-Commercial License which permits unrestricted non-commercial use, distribution, and reproduction in any medium provided the original work is properly cited.

J Drugs Dermatol ;6 9: Please enter your name here. Life expectancy in GS is not affected. A dose ranging study of photodynamic therapy with porfimer sodium Photofrin for treatment of basal cell carcinoma.

References Bitar Am Fam Physician 65 Please review our privacy policy. Patients with this syndrome may also develop medulloblastomas and ovarian fibromas.

Environmental exposure and other modifier genes may contribute to the variable expressivity observed in the clinical presentation.

A clinical diagnosis can be made using major and minor criteria. The disease is characterized by the development of multiple basal cell carcinomas at young ages.

Specialised Social Services Eurordis directory. An autosomal dominant genetic syndrome caused by abnormalities in the PTCH gene.

Page not available

Mutation analysis of the human homologue of Drosophila patched and the xeroderma pigmentosum complementation group A genes sinsrome squamous cell carcinomas of the skin. Clinical findings in 37 Italian affected individuals. Nevoid basal cell carcinoma syndrome. Due to the wide clinical spectrum, treatment and management of its modalities are not standardized and should be individualized and monitored by a multidisciplinary team. Nevoid basal-cell carcinoma syndrome.

Page not available

Ann Plast Surg ;39 4: Prognosis Life expectancy in GS is not affected. These tumors may present with other skin manifestations such as gor,in pits and with extracutaneous manifestations such as odontogenic keratocysts and medulloblastoma.

Epub Jan Cleft Palate Craniofac J ;43 1: Hematology and Oncology Chapter.

Dental cysts Obtain films borlin Pelvic Ultrasound: It is mainly characterized by numerous early onset basal cell carcinomas, odontogenic cysts of jaw and skeletal abnormalities. Children considered high risck should have magnetic resonance tomography to scan for medulloblastomas. The BCCs are the main findings and their onset is between puberty and the age of 35 years.