| Gardner syndrome: skin manifestations, differential diagnosis and management. | |
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MedLine Citation:
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PMID: 20141232 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Gardner syndrome is a variant of familial adenomatous polyposis (FAP) and results in the manifestation of numerous external and internal symptoms including gastrointestinal polyps, osteomas, tumors, and epidermoid cysts. As such, it is highly recommended that physicians conduct full body examinations to catch the key clinical features of the disease when it is suspected. Stemming from a mutation in the adenomatous polyposis coli (APC) gene, Gardner syndrome shares genetic correlations with the FAP phenotype; as a result, it becomes all the more crucial for physicians to be able to discern Gardner syndrome from other differential diagnoses such as Turcot syndrome, FAP, and other attenuated forms of familial polyposis. Fortunately, Gardner syndrome has characteristic polyps in the colon, osteomas, and also exhibits abnormalities in the retinal epithelium that discern it from others. Surgery is the most effective method of management for Gardner syndrome; restorative proctocolectomy with ileal pouch anal anastomosis with mucosectomy is the top choice for colonic malignancies, and skin manifestations can be treated through a variety of excisions and therapy depending on location, size, and number of malignancies. Currently, there are no specific screening recommendations for Gardner syndrome, but testing following general screening recommendations for extra-colonic malignancies, genetic counseling, and endoscopy are encouraged. |
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Authors:
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Edward Juhn; Amor Khachemoune |
Publication Detail:
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Type: Journal Article; Review |
Journal Detail:
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Title: American journal of clinical dermatology Volume: 11 ISSN: 1175-0561 ISO Abbreviation: Am J Clin Dermatol Publication Date: 2010 |
Date Detail:
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Created Date: 2010-02-09 Completed Date: 2010-04-27 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 100895290 Medline TA: Am J Clin Dermatol Country: New Zealand |
Other Details:
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Languages: eng Pagination: 117-22 Citation Subset: IM |
Affiliation:
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Resident PG2 Internal Medicine, Los Angeles, California, USA. |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adenomatous Polyposis Coli
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genetics Colorectal Neoplasms, Hereditary Nonpolyposis / diagnosis, pathology, therapy Diagnosis, Differential Gardner Syndrome / diagnosis, pathology, therapy* Genetic Counseling / methods Humans Mass Screening / methods* Mutation Skin / pathology* |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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