Document Detail


Cutaneous manifestations of gastrointestinal disease: part I.
MedLine Citation:
PMID:  23317980     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Cutaneous findings are not uncommonly a concomitant finding in patients afflicted with gastrointestinal (GI) diseases. The dermatologic manifestations may precede clinically evident GI disease. Part I of this 2-part CME review focuses on dermatologic findings as they relate to hereditary and nonhereditary polyposis disorders and paraneoplastic disorders. A number of hereditary GI disorders have an increased risk of colorectal carcinomas. These disorders include familial adenomatous polyposis, Peutz-Jeghers syndrome, and juvenile polyposis syndrome. Each disease has its own cutaneous signature that aids dermatologists in the early diagnosis and detection of hereditary GI malignancy. These disease processes are associated with particular gene mutations that can be used in screening and to guide additional genetic counseling. In addition, there is a group of hamartomatous syndromes, some of which are associated with phosphatase and tensin homolog (PTEN) gene mutations, which present with concurrent skin findings. These include Cowden syndrome, Bannayan-Riley-Ruvalcaba syndrome, and Cronkhite-Canada syndrome. Finally, paraneoplastic disorders are another subcategory of GI diseases associated with cutaneous manifestations, including malignant acanthosis nigricans, Leser-Trélat sign, tylosis, Plummer-Vinson syndrome, necrolytic migratory erythema, perianal extramammary Paget disease, carcinoid syndrome, paraneoplastic dermatomyositis, and paraneoplastic pemphigus. Each of these disease processes have been shown to be associated with an increased risk of GI malignancy. This underscores the important role of dermatologists in the diagnosis, detection, monitoring, and treatment of these disorders while consulting and interacting with their GI colleagues.
Authors:
Kejal R Shah; C Richard Boland; Mahir Patel; Breck Thrash; Alan Menter
Publication Detail:
Type:  Journal Article; Review    
Journal Detail:
Title:  Journal of the American Academy of Dermatology     Volume:  68     ISSN:  1097-6787     ISO Abbreviation:  J. Am. Acad. Dermatol.     Publication Date:  2013 Feb 
Date Detail:
Created Date:  2013-01-15     Completed Date:  2013-03-07     Revised Date:  2014-02-05    
Medline Journal Info:
Nlm Unique ID:  7907132     Medline TA:  J Am Acad Dermatol     Country:  United States    
Other Details:
Languages:  eng     Pagination:  189.e1-21; quiz 210     Citation Subset:  IM    
Copyright Information:
Copyright © 2012 American Academy of Dermatology, Inc. Published by Mosby, Inc. All rights reserved.
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MeSH Terms
Descriptor/Qualifier:
Acanthosis Nigricans / genetics
Adenomatous Polyposis Coli / genetics
Carcinoma, Basal Cell / genetics
Colorectal Neoplasms / genetics
Colorectal Neoplasms, Hereditary Nonpolyposis / etiology,  genetics
Dermatomyositis / genetics
Gastrointestinal Diseases / complications*,  genetics
Gastrointestinal Neoplasms / complications*,  pathology
Hamartoma Syndrome, Multiple / diagnosis,  genetics
Histiocytoma, Benign Fibrous / genetics
Humans
Hypotrichosis / genetics
Intestinal Polyposis / genetics
Malignant Carcinoid Syndrome / genetics
Mutation
Necrolytic Migratory Erythema / diagnosis,  genetics
PTEN Phosphohydrolase / genetics
Paraneoplastic Syndromes / complications,  genetics
Peutz-Jeghers Syndrome / genetics
Skin Diseases, Genetic / etiology*
Skin Neoplasms / genetics,  secondary
Chemical
Reg. No./Substance:
EC 3.1.3.48/PTEN protein, human; EC 3.1.3.67/PTEN Phosphohydrolase
Comments/Corrections
Comment In:
J Am Acad Dermatol. 2014 Jan;70(1):198   [PMID:  24355272 ]
J Am Acad Dermatol. 2014 Jan;70(1):197-8   [PMID:  24355269 ]

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