Document Detail


Brooke-Spiegler syndrome with associated pegged teeth.
MedLine Citation:
PMID:  19090338     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
Ryan M Carlson; Lori Haddad; John C Pui
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Cutis     Volume:  82     ISSN:  0011-4162     ISO Abbreviation:  Cutis     Publication Date:  2008 Nov 
Date Detail:
Created Date:  2008-12-18     Completed Date:  2009-01-13     Revised Date:  2013-09-12    
Medline Journal Info:
Nlm Unique ID:  0006440     Medline TA:  Cutis     Country:  United States    
Other Details:
Languages:  eng     Pagination:  345-9     Citation Subset:  IM    
Affiliation:
Oakwood Southshore Medical Center, Trenton, Michigan, USA. rcarlsondo@hotmail.com
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MeSH Terms
Descriptor/Qualifier:
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:
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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