Biomaterial Database

Gardner's stigmas in patients with familial adenomatosis coli. 1982

H J Järvinen, and P Peltokallio, and M Landtman, and J Wolf

Extracolonic lesions compatible with Gardner's syndrome were studied in 34 patients from 17 unrelated families with established familial adenomatosis coli. Thirteen patients (38 per cent) had the complete syndrome and 12 patients (35 per cent) a bisymptomatic syndrome. Bone lesions were found in 79 per cent of the patients examined, epidermoid cysts in 35 per cent, desmoid tumours in 18 per cent and dental changes in 18 per cent. One extracolonic manifestation of the triad in at least one affected family member was detected in 14 families (82 per cent). The findings provide additional evidence for the view that all cases of familial adenomatosis coli belong to a single genetic entity. The usually innocent extracolonic signs of Gardner's syndrome severe as valuable markers for early detection of asymptomatic family members at risk. Panoramic X-ray of the jaws seems to be especially suitable for this purpose.

UI	MeSH Term	Description	Entries
D008297	Male		Males
D009377	Multiple Endocrine Neoplasia	A group of autosomal dominant diseases characterized by the combined occurrence of tumors involving two or more ENDOCRINE GLANDS that secrete PEPTIDE HORMONES or AMINES. These neoplasias are often benign but can be malignant. They are classified by the endocrine glands involved and the degree of aggressiveness. The two major forms are MEN1 and MEN2 with gene mutations on CHROMOSOME 11 and CHROMOSOME 10, respectively.	Adenomatosis, Familial Endocrine,Endocrine Neoplasia, Multiple,Multiple Endocrine Neoplasia Syndrome,Neoplasia, Multiple Endocrine,Neoplasms, Multiple Endocrine,Adenomatosis, Multiple Endocrine,Familial Endocrine Adenomatosis,Multiple Endocrine Adenomatosis,Multiple Endocrine Adenopathy,Multiple Endocrine Neoplasia Syndromes,Multiple Endocrine Neoplasms,Adenomatoses, Familial Endocrine,Adenomatoses, Multiple Endocrine,Adenopathies, Multiple Endocrine,Adenopathy, Multiple Endocrine,Endocrine Adenomatoses, Familial,Endocrine Adenomatoses, Multiple,Endocrine Adenomatosis, Familial,Endocrine Adenomatosis, Multiple,Endocrine Adenopathies, Multiple,Endocrine Adenopathy, Multiple,Endocrine Neoplasms, Multiple,Familial Endocrine Adenomatoses,Multiple Endocrine Adenomatoses,Multiple Endocrine Adenopathies
D010016	Osteoma	A benign tumor composed of bone tissue or a hard tumor of bonelike structure developing on a bone (homoplastic osteoma) or on other structures (heteroplastic osteoma). (From Dorland, 27th ed)	Osteomas
D010375	Pedigree	The record of descent or ancestry, particularly of a particular condition or trait, indicating individual family members, their relationships, and their status with respect to the trait or condition.	Family Tree,Genealogical Tree,Genealogic Tree,Genetic Identity,Identity, Genetic,Family Trees,Genealogic Trees,Genealogical Trees,Genetic Identities,Identities, Genetic,Tree, Family,Tree, Genealogic,Tree, Genealogical,Trees, Family,Trees, Genealogic,Trees, Genealogical
D011859	Radiography	Examination of any part of the body for diagnostic purposes by means of X-RAYS or GAMMA RAYS, recording the image on a sensitized surface (such as photographic film).	Radiology, Diagnostic X-Ray,Roentgenography,X-Ray, Diagnostic,Diagnostic X-Ray,Diagnostic X-Ray Radiology,X-Ray Radiology, Diagnostic,Diagnostic X Ray,Diagnostic X Ray Radiology,Diagnostic X-Rays,Radiology, Diagnostic X Ray,X Ray Radiology, Diagnostic,X Ray, Diagnostic,X-Rays, Diagnostic
D001859	Bone Neoplasms	Tumors or cancer located in bone tissue or specific BONES.	Bone Cancer,Cancer of Bone,Cancer of the Bone,Neoplasms, Bone,Bone Neoplasm,Neoplasm, Bone
D004814	Epidermal Cyst	Intradermal or subcutaneous saclike structure, the wall of which is stratified epithelium containing keratohyalin granules.	Epidermoid Cyst,Pilar Cyst,Sebaceous Cyst,Cyst, Epidermal,Cyst, Epidermoid,Cyst, Pilar,Cyst, Sebaceous,Cysts, Epidermal,Cysts, Epidermoid,Cysts, Pilar,Cysts, Sebaceous,Epidermal Cysts,Epidermoid Cysts,Pilar Cysts,Sebaceous Cysts
D005260	Female		Females
D005350	Fibroma	A benign tumor of fibrous or fully developed connective tissue.	Fibromatosis,Fibromyxoma,Myxofibroma,Fibromas,Fibromatoses,Fibromyxomas,Myxofibromas
D005736	Gardner Syndrome	A variant of ADENOMATOUS POLYPOSIS COLI caused by mutation in the APC gene (GENES, APC) on CHROMOSOME 5. It is characterized by not only the presence of multiple colonic polyposis but also extracolonic ADENOMATOUS POLYPS in the UPPER GASTROINTESTINAL TRACT; the EYE; the SKIN; the SKULL; and the FACIAL BONES; as well as malignancy in organs other than the GI tract.	Gardner's Syndrome,Gardner Syndromes,Gardner's Syndromes,Gardners Syndrome,Syndrome, Gardner,Syndrome, Gardner's,Syndromes, Gardner,Syndromes, Gardner's