|Year : 1981 | Volume
| Issue : 1 | Page : 55-58
Gardner's syndrome presenting as unilateral proptosis
MR Jain, HS Mogra
Department of Ophthalmology, Revindra Nath Tagore Medical College, Udaipur, India
M R Jain
D-15 hospital Campus, Udaipur 313 001
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Jain M R, Mogra H S. Gardner's syndrome presenting as unilateral proptosis. Indian J Ophthalmol 1981;29:55-8
In a series of articles from 1950 to 1953, Gardner and his associates,, described a large family with a dominant inheritance pattern of osteomatosis, multiple soft tissue tumours and multiple adenomatous colon polyps. Since then many identical cases have been described and when these three abnormalities appear in any individual, the disease is designated as "Gardner's Syndrome".
The case reported here is probably the first in ophthalmic literature which presented as a case of unilateral proptosis and on detailed examination showed the characteristic features of Gardner's syndrome, in addition to the dental anomaly which has also been reported by various authors in association with the syndrome.
| Case report|| |
Mr. S., aged 26 years, presented as a case of gradually increasing painless proptosis in left eye for last 8 months with slight visual discomfort. On examination, it was found that there was a bony-hard non-tender swelling, about 3 cm. by 2 cm. at the supranasal angle of left orbit, pushing the eye ball forward & laterally, resulting into 4 mm. of proptosis. [Figure - 1] Swelling was fixed to the bone and its posterior boundaries could not be palpated. Skin over it was freely movable. Patient volunteered the history that he had similar hard swelling of about 1.5 cm. by 1 cm. at the angle of left mandible which was surgically removed 3 years back and since than, it has not recurred.
On general examination, one more small hard swelling was noticed on the left parietal region of the skull and multiple soft cystic swellings of varying sizes were noticed on the back of the trunk [Figure - 2] and antero-lateral aspect of the groin. The swellings varied in size from l cm. in diameter to 8 by 4 cms, and showed characteristic black puncta over the skin surface, suggesting diagnosis of sebaceous cysts. The diagnosis was confirmed by excisional biopsy. One swelling was reported to have spontaneously ruptured liberating, yellowish cheesy material & leaving dark coloured scar.
With above findings, the case was suspected to be of Gardner's syndrome. On interrogation, it was found that the patient had the history of occasionally passing blood mixed with stool. Roentgenograms with barium meal and barium enema gave suspicious shadows of intestinal polyps. Colonoscopy was performed by gastroenterologists and reported multiple polyps (5 to 7 in number) of varying sizes ranging from 2 mm. to 12 mm. in diameter. Most of them were sessile and pale pink in colour but the largest one was pedunculated and cherry red in colour. These were located in the transverse colon & rectosigmoidal junction. Biopsy taken from these showed adenomatous change [Figure - 3].
X-ray of the skull revealed large (4 cm. by 3 cm.) size bony tumour invading left frontal sinus & supranasal boundaries of left orbit. It also confirmed one small bony growth in the left parietal region. In addition, an unerupted tooth was noted in the left mandible [Figure - 4]
All other systems were found to be normal. Patient has no history of loss of weight or anorexia or pain in abdomen. Family history and examination of family members revealed presence of an osteoma on the right patella of his 50 years old father and the mother had gastric disturbance with the presence of blood mixed with stool. Colonoscopy couldn't be done. None of the family member had soft tissue tumours.
| Discussion|| |
In 1912, Devic and Bussy first reported the association of generalized intestinal polyposis, osteomas of the mandible & multiple sebaceous cysts and lipomas. Gardner and associates,, were the first to emphasize the association of the colonic polyps and the extra intestinal tumours, the premalignant tendency of the polyps and an inheritance from a rare defective autosomal gene which is pleiotropic and usually showing a high degree of penetrance. Gardner & Richards suggested that one basic chemical reaction controlled by a single mutant gene might influence tumorous growth in several different types of tissues. Because of the hormonal and other extracellular influences, the relationship between the primary action of the gene and the ultimate phenotyping expression remains very complex. It would appear that affected individuals inherit some fundamental defect which predisposes various mesenchymal and epidermal tissues to varying degree of neoplastic change.
Soft tissue tumours are cutaneous or subcutaneous in location, are usually multiple and are found on all body areas with the majority located on the trunk and scalp. These tumours may be epidermoid inclusion cysts, spontaneous incisional fibromas, dermoid tumours, sebaceous cysts, and less commonly lipomas. Bony changes very from simple irregular elevations and thickening of the cortex to small exostosis and discrete osteomas. Such change are mostly found in membranous bones namely scalp, mandible and maxilla,. Osteomas are also not infrequently found projecting into the sinus cavities and originating from the long bones and digits., The present case had all the classical features of osteomas ranging from small exostosis on the scalp, osteoma of the mandible (which was removed five year back) and large osteoma of the left frontal sinus which has led to proptosis.
Having found a characteristic osteoma and multiple sebaceous cysts on the trunk and a positive history of passing blood in stood, the case was suspected to be of Gardner' Syndrome.
Association of dental anomalies in the form of impacted or supernumerary teeth in the maxilla in Gardner's syndrome was first reported by Fader and his associates. It could be considered as an important manifestation of Gardner's syndrome. Our case too showed an unerupted tooth in the left mandible.
Management of Gardner's Syndrome is a challenging task, specially the management of intestinal polyposis. It is suggested that when the diagnosis of colonic polyposis has been made, a colectomy should be performed; total or a partial with an ileoproctostomy and if necessary, fulguration of the developing polyps may be the treatment of choices. Osteomas and soft tissue tumours may be excised without any danger of recurrence.
| Summary|| |
Case reported here presented as a case of unilateral proptosis and on detailed examination was found to have characteristic triad of Gardner Syndrome along with, not infrequently reported association of dental anomaly.
| Acknowledgement|| |
We are thankful to Dr. N.K. Malpani for his colonoscopy report and to Dr. M.S. Singhvi for examining relatives of the patient at their native place and furnishing the report.
| References|| |
Devic, A, B., 1912, Arch Mal. App. Digest.4, 6 :278.
Gardner, E.J., and Plenk, H.P., 1952, Amer J. Hum. Genet, 4 37.
Gardner, E.J., and Richards A.C., 1953, Amer. J., Hum. Genet, 5 : 139.
Bochetto, J.F., and Raycroft, J.F. 1963, Surg. Gynec obstretic. 117 : 489.
Cramer, L.M., 1962, Plast Reconstr. Surg. 29 402.
Smith, W.G.. 1958, Dis. Colon Rectum 1 : 323
Gorlin, R.J., and Chaudhry, A.P., 1960, New Eng. J. Med. 263 : 1151.
Fader, M., Kline, S.K., and Spatz, S., 1962. Oral Surg. 15 : 153.
Mayo, C.W., and Pagtalunan, R..LG., 1963. Surgery, 53 : 711.
Mckusick, V.A., 1963, JAMA, 182 :271
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[Figure - 1], [Figure - 2], [Figure - 3], [Figure - 4]
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