Document Detail


The concomitant occurrence of multiple epidermal cysts, osteomas and thyroid gland nodules is not diagnostic for Gardner syndrome in the absence of intestinal polyposis: a clinical and genetic report.
MedLine Citation:
PMID:  14616385     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Gardner syndrome, a phenotypic variant of familial adenomatous polyposis, is characterized by the classical clinical triad of skin and soft tissue tumours, osteomas and intestinal polyposis, but disease patterns with pairs of these findings have also been reported. Different mutations in the adenomatous polyposis coli (APC) gene have been shown to be associated with Gardner syndrome disease phenotypes. A 36-year-old patient presented with multiple epidermal cysts on the face, left ear lobe and neck, and the possible diagnosis of Gardner syndrome was based on the additional findings of two classical osteomas in the left radius and ulna and a cold non-malignant nodule of the thyroid gland. Intestinal polyposis was lacking at the time of examination. Major deletions but not microdeletions were excluded by a cytogenetic analysis with 650 chromosomal bands per haploid set. Systematic sequencing of the entire coding region of the APC gene (> 8500 bp) of the patient and five healthy controls was also performed. As a results, new APC gene polymorphisms were identified in exons 13 [A545A (A/G)] and 15 [G1678G (A/G), S1756S (G/T), P1960P (A/G)]. We also detected D1822V (A/T) which has recently been reported to be potentially related to colorectal carcinoma, and genotyped 194 randomly chosen healthy individuals from the Glasgow area for this as well as for the above variants in exons 13 and 15. Interestingly, of the 194 controls, 112 carried the DD (57.7%), 71 the DV (36.6%), and the remaining 11 (5.7%), including our patient, the VV genotype. It is therefore unlikely that APC D1822V serves as an important marker for colorectal carcinoma. In conclusion, we failed to identify obvious germline candidate mutations in > 8500 bp of the coding region of the APC gene in a patient with multiple epidermal cysts, osteomas and a thyroid gland nodule; major chromosomal deletions were excluded. Therefore, we assume that only the presence of intestinal polyposis is a marker for Gardner syndrome.
Authors:
S-M Herrmann; Y D Adler; K Schmidt-Petersen; V Nicaud; C Morrison; M Paul; Ch C Zouboulis
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  The British journal of dermatology     Volume:  149     ISSN:  0007-0963     ISO Abbreviation:  Br. J. Dermatol.     Publication Date:  2003 Oct 
Date Detail:
Created Date:  2003-11-17     Completed Date:  2003-12-18     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  0004041     Medline TA:  Br J Dermatol     Country:  England    
Other Details:
Languages:  eng     Pagination:  877-83     Citation Subset:  IM    
Affiliation:
Institute of Clinical Pharmacology and Toxicology, Department of Clinical Pharmacology, University Medical Center Benjamin Franklin, Freie Universität Berlin, Fabeckstrasse 60-62, 14195 Berlin, Germany.
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MeSH Terms
Descriptor/Qualifier:
Adult
Bone Neoplasms / genetics
Epidermal Cyst / genetics*
Facial Dermatoses / genetics*
Gardner Syndrome / diagnosis*,  genetics
Genes, APC*
Humans
Intestinal Polyposis / genetics*
Male
Osteoma / genetics
Polymorphism, Genetic
Thyroid Nodule / genetics

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


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