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Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach

Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental de...

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Autores principales: Kiwilsza, Małgorzata, Sporniak-Tutak, Katarzyna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: International Scientific Literature, Inc. 2012
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560657/
https://www.ncbi.nlm.nih.gov/pubmed/22936202
http://dx.doi.org/10.12659/MSM.883341
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author Kiwilsza, Małgorzata
Sporniak-Tutak, Katarzyna
author_facet Kiwilsza, Małgorzata
Sporniak-Tutak, Katarzyna
author_sort Kiwilsza, Małgorzata
collection PubMed
description Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments. We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome. We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews. Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure.
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spelling pubmed-35606572013-04-24 Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach Kiwilsza, Małgorzata Sporniak-Tutak, Katarzyna Med Sci Monit Review Article Gorlin-Goltz syndrome is a rare genetic condition showing a variable expressiveness. It is inherited in a dominant autosomal way. The strongest characteristic of the disease includes multiple basal cell carcinomas, jaw cysts, palmar and plantar pits, skeletal abnormalities and other developmental defects. Owing to the fact that the condition tends to be a multisystemic disorder, familiarity of various medical specialists with its manifestations may reduce the time necessary for providing a diagnosis. It will also enable them to apply adequate methods of treatment and secondary prevention. In this study, we present symptoms of the disease, its diagnostic methods and currently used treatments. We searched 2 scientific databases: Medline (EBSCO) and Science Direct, for the years 1996 to 2011. In our search of abstracts, key words included nevoid basal cell carcinoma syndrome and Gorlin-Goltz syndrome. We examined 287 studies from Medline and 80 from Science Direct, all published in English. Finally, we decided to use 60 papers, including clinical cases and literature reviews. Patients with Gorlin-Goltz syndrome need particular multidisciplinary medical care. Knowledge of multiple and difficult to diagnose symptoms of the syndrome among professionals of various medical specialties is crucial. The consequences of the disease pose a threat to the health and life of patients. Therefore, an early diagnosis creates an opportunity for effective prevention and treatment of the disorder. Prevention is better than cure. International Scientific Literature, Inc. 2012-09-01 /pmc/articles/PMC3560657/ /pubmed/22936202 http://dx.doi.org/10.12659/MSM.883341 Text en © Med Sci Monit, 2012 This work is licensed under a Creative Commons Attribution-NonCommercial-NoDerivs 3.0 Unported License.
spellingShingle Review Article
Kiwilsza, Małgorzata
Sporniak-Tutak, Katarzyna
Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach
title Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach
title_full Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach
title_fullStr Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach
title_full_unstemmed Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach
title_short Gorlin-Goltz syndrome – a medical condition requiring a multidisciplinary approach
title_sort gorlin-goltz syndrome – a medical condition requiring a multidisciplinary approach
topic Review Article
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3560657/
https://www.ncbi.nlm.nih.gov/pubmed/22936202
http://dx.doi.org/10.12659/MSM.883341
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