| Multiple facial angiofibromas: a cutaneous manifestation of Birt-Hogg-Dubé syndrome. | |
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MedLine Citation:
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PMID: 16021156 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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Birt-Hogg-Dubé syndrome (BHDS) is an uncommon autosomal dominant genodermatosis characterized by a triad of skin tumors--fibrofolliculomas, trichodiscomas, and acrochordons--together with an increased risk of renal tumors and spontaneous pneumothoraces. This report describes multiple facial angiofibromas as the predominant initial manifestation of BHDS. The patient had a total of 41 facial papules removed via shave excision, initially for diagnostic and then for therapeutic purposes; histologic evaluation revealed diagnostic features of angiofibroma in 39 lesions and fibrofolliculoma in only 2. BHDS should be considered, along with tuberous sclerosis and multiple endocrine neoplasia type 1, in the differential diagnosis of multiple facial angiofibromas, particularly when onset is in adulthood. |
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Authors:
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Julie V Schaffer; Mona A Gohara; Jennifer M McNiff; Sumaira Z Aasi; Israel Dvoretzky |
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Publication Detail:
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Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
Journal Detail:
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Title: Journal of the American Academy of Dermatology Volume: 53 ISSN: 1097-6787 ISO Abbreviation: J. Am. Acad. Dermatol. Publication Date: 2005 Aug |
Date Detail:
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Created Date: 2005-07-15 Completed Date: 2005-11-02 Revised Date: 2006-11-15 |
Medline Journal Info:
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Nlm Unique ID: 7907132 Medline TA: J Am Acad Dermatol Country: United States |
Other Details:
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Languages: eng Pagination: S108-11 Citation Subset: IM |
Affiliation:
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Department of Dermatology, Yale University School of Medicine, New Haven, Connecticut 06520, USA. julie.schaffer@yale.edu |
Export Citation:
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| MeSH Terms | |
Descriptor/Qualifier:
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Adult Angiofibroma / diagnosis*, genetics, pathology Diagnosis, Differential Diseases in Twins / diagnosis*, genetics, pathology Facial Neoplasms / diagnosis*, genetics, pathology Genes, Dominant Humans Male Neoplastic Syndromes, Hereditary / diagnosis*, genetics, pathology Proteins / genetics Proto-Oncogene Proteins Skin Neoplasms / diagnosis*, genetics, pathology Tumor Suppressor Proteins Twins, Monozygotic |
| Chemical | |
Reg. No./Substance:
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0/FLCN protein, human; 0/Proteins; 0/Proto-Oncogene Proteins; 0/Tumor Suppressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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