| Brooke-Spiegler syndrome with associated pegged teeth. | |
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MedLine Citation:
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PMID: 19090338 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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The occurrence of cylindromas, trichoepitheliomas, and spiradenomas completes the triad for Brooke-Spiegler syndrome (BSS). This combination represents a rare genetic syndrome with tumors expressing adnexal differentiation. Malignant transformation is rare but reported, and surgical excision is warranted to prevent turban tumor formation of the scalp. Genetic testing is encouraged, with mutations present on the cylindromatosis gene, CYLD, locus. The occurrence of pegged teeth in our patient was most interesting, as it has not been reported in the literature in patients with BSS. |
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Authors:
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Ryan M Carlson; Lori Haddad; John C Pui |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Cutis; cutaneous medicine for the practitioner Volume: 82 ISSN: 0011-4162 ISO Abbreviation: Cutis Publication Date: 2008 Nov |
Date Detail:
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Created Date: 2008-12-18 Completed Date: 2009-01-13 Revised Date: 2009-11-19 |
Medline Journal Info:
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Nlm Unique ID: 0006440 Medline TA: Cutis Country: United States |
Other Details:
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Languages: eng Pagination: 345-9 Citation Subset: IM |
Affiliation:
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Oakwood Southshore Medical Center, Trenton, Michigan, USA. rcarlsondo@hotmail.com |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Adult Carcinoma, Adenoid Cystic / diagnosis, genetics, physiopathology Female Genetic Testing Humans Mutation Neoplasms, Adnexal and Skin Appendage / diagnosis, genetics, physiopathology* Neoplastic Syndromes, Hereditary / diagnosis, genetics, physiopathology Skin Neoplasms / diagnosis, genetics, physiopathology* Syndrome Tooth Abnormalities / etiology* Tumor Suppressor Proteins / genetics |
| Chemical | |
Reg. No./Substance:
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0/CYLD protein, human; 0/Tumor Suppressor Proteins |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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