Document Detail

Brooke-Spiegler syndrome with associated pegged teeth.
MedLine Citation:
PMID:  19090338     Owner:  NLM     Status:  MEDLINE    
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.
Ryan M Carlson; Lori Haddad; John C Pui
Related Documents :
18332068 - Somatic mosaicism for a mutation of the col4a5 gene is a cause of mild phenotype male a...
15493068 - Eya1 mutation in a newborn female presenting with cardiofacial syndrome.
19856868 - Pfeiffer-like syndrome with holoprosencephaly: a newborn with maternal smoking and alco...
18487518 - Angelman syndrome due to a novel splicing mutation of the ube3a gene.
2303388 - Multiple nonlethal congenital anomalies in a llama.
12167188 - Brugada syndrome: current clinical aspects and risk stratification.
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    
Oakwood Southshore Medical Center, Trenton, Michigan, USA.
Export Citation:
APA/MLA Format     Download EndNote     Download BibTex
MeSH Terms
Carcinoma, Adenoid Cystic / diagnosis,  genetics,  physiopathology
Genetic Testing
Neoplasms, Adnexal and Skin Appendage / diagnosis,  genetics,  physiopathology*
Neoplastic Syndromes, Hereditary / diagnosis,  genetics,  physiopathology
Skin Neoplasms / diagnosis,  genetics,  physiopathology*
Tooth Abnormalities / etiology*
Tumor Suppressor Proteins / genetics
Reg. No./Substance:
0/CYLD protein, human; 0/Tumor Suppressor Proteins

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine

Previous Document:  Benzoyl peroxide cleansers for the treatment of acne vulgaris: status report on available data.
Next Document:  Bullous scabies: a diagnostic challenge.