Journal of Indian Society of Pedodontics and Preventive Dentistry
Journal of Indian Society of Pedodontics and Preventive Dentistry
                                                   Official journal of the Indian Society of Pedodontics and Preventive Dentistry                           
Year : 2012  |  Volume : 30  |  Issue : 4  |  Page : 356--357

Peripheral osteoma as a marker of Gardner's syndrome, and what then must we do?


P Pitak-Arnnop1, K Dhanuthai2, A Hemprich3, NC Pausch3,  
1 Department of Oral and Maxillofacial Surgery, UKGM GmbH, University Hospital of Marburg, Faculty of Medicine, Philipps University, Marburg, Germany
2 Department of Oral Pathology, Faculty of Dentistry, Chulalongkorn University, Bangkok, Thailand
3 Department of Oral, Craniomaxillofacial and Facial Plastic Surgery, Faculty of Medicine, University Hospital of Leipzig, Leipzig, Germany

Correspondence Address:
P Pitak-Arnnop
Department of Oral and Maxillofacial Surgery, UKGM GmbH, University Hospital of Marburg, Baldingerstraße, D-35033 Marburg
Germany




How to cite this article:
Pitak-Arnnop P, Dhanuthai K, Hemprich A, Pausch N C. Peripheral osteoma as a marker of Gardner's syndrome, and what then must we do?.J Indian Soc Pedod Prev Dent 2012;30:356-357


How to cite this URL:
Pitak-Arnnop P, Dhanuthai K, Hemprich A, Pausch N C. Peripheral osteoma as a marker of Gardner's syndrome, and what then must we do?. J Indian Soc Pedod Prev Dent [serial online] 2012 [cited 2020 Jan 18 ];30:356-357
Available from: http://www.jisppd.com/text.asp?2012/30/4/356/108946


Full Text

Sir,

We read with great interest the article by Singhal et al. [1] regarding a case of peripheral osteoma of the jaw. Although this report reveals useful information, there are some areas for discussion upon which we would like to expand.

First, Gardner's syndrome (GS) is a variant of familial adenomatous polyposis (FAP), an autosomal dominant disorder causing widespread polyps of the colon and rectum with a high potential of malignant transformation. It is linked to a mutation of the adenomatous polyposis coli (APC) gene located on chromosome 5q21-22. GS affects approximately 10% of patients with FAP and is characterized by intestinal polyps, multiple osteomas, and skin and soft tissue tumors, including osteomas, epidermal inclusion cysts, lipomas, fibromas, and desmoid fibromatoses. [2],[3],[4]

Genetic testing is the most efficient method for identifying gene carriers in an FAP relative. This includes linkage analysis to markers on chromosome 5q, protein truncation testing, direct sequencing, conformation-sensitive gel electrophoresis, and single-strand, conformation-sensitive gel electrophoresis. Genetic risk assessment should be done before endoscopic screening. Because GS is an inherited disorder, the patient's family should also be screened for intestinal polyposis, especially when the family members have GS signs and symptoms and/or possible APC mutations. Once the patient's family has no signs and symptoms of the GS, it suggests a new mutation on APC gene. [2],[3],[4] However, the family history, and genetic testing and counseling were not mentioned in the report of Singhal et al.

Second, the authors emphasized the importance of osteoma as a predictor of GS-associated intestinal cancer. Osteomas usually precede polyp formation and are a useful predictor of such occurrence. However, it is not clear whether the patient in this report, a 15-year-old girl, was referred to a proctologist to search for intestinal polyps, which most often emerge in the second and third decades of life. Polyps may be found anywhere in the gastrointestinal tract, except in the esophagus. Hence, patients presenting with craniofacial osteomas should be evaluated with genetic testing followed by colonoscopy to prevent the development of colorectal carcinoma. Colonoscopy and annual follow-up (probably coupled with yearly colonoscopy and gastroduodenoscopy) are recommended in all cases with suspected or proved GS. [2],[3],[4] Screening colonoscopy should begin at age 10-12 years for patients with APC mutations. [4] Intestinal findings of the Singhal et al.'s patient remain unknown.

Third, some GS patients may present with intra-abdominal desmoid tumor, which may lead to intestinal, vascular, and ureteral compression and obstruction; a pigmented fundus lesion, which represents congenital hypertrophy of the retinal pigment epithelium (70-80% of patients with FAP); benign cystic lung tumors; mesenteric fibromatosis; dental abnormalities; lymphoid hyperplasia of the terminal ileum; or ileal adenomas. [3],[4] Complete oral, gastrointestinal, lung, and ophthalmological examinations are therefore essential.

Lastly, although many authors suggest that almost all untreated GS patients will develop colorectal adenocarcinoma before the age of 40 years, [2],[3],[4] a case with GS who survived without treatment was reported in the literature. [3] Studies have shown that cyclooxygenase-2 inhibitors (sulindac and celecoxib) are effective in preventing or inducing regression of the polyps. However, surgery is the standard treatment for GS; restorative proctocolectomy with ileal pouch anal anastomosis and mucosectomy is the therapy of choice for colonic malignancies, and skin and osseous manifestations can be treated through a variety of excisions. Therapy depends on location, size, and number of malignancies. [3],[5]

After prophylactic colectomy, FAP patients may still die from rectal cancer (if an ileorectal anastomosis is performed, or cancer occurs in the rectal cuff remnants), from desmoid tumors, duodenal cancers, or from other uncommon complications. As a result, the patients require life-long observation, and medical (including nutrition and vitamin supplements) and emotional support. [4]

References

1Singhal P, Singhal A, Ram R, Gupta R. Peripheral osteoma in a young patient: A marker for precancerous condition? J Indian Soc Pedod Prev Dent 2012;30:74-7.
2Silva CA, Moraes Pde C, Furuse C, Junqueira JL, Thomaz LA, de Araújo VC. Gardner syndrome with no clinical family history. J Craniofac Surg 2009;20:1186-9.
3Vaynsthein G, Gurlanik L, Markel A. Gardner's syndrome in a 75-year-old woman. Intern Med 2008;47:1491-4.
4Smud D, Augustin G, Kekez T, Kinda E, Majerovic M, Jelincic Z. Gardner's syndrome: Genetic testing and colonoscopy are indicated in adolescents and young adults with cranial osteomas: A case report. World J Gastroenterol 2007;13:3900-3.
5Juhn E, Khachemoune A. Gardner syndrome: Skin manifestations, differential diagnosis and management. Am J Clin Dermatol 2010;11:117-22.