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Gardner's Syndrome Presenting with a Giant Osteoma

1997; King Faisal Specialist Hospital and Research Centre; Volume: 17; Issue: 5 Linguagem: Inglês

10.5144/0256-4947.1997.542

0975-4466

Ezzat E. Dawlatly, Abdulaziz Al‐Quorain, Mohannad Salih-Mahmud,

Cancer-related molecular mechanisms research

Case ReportsGardner's Syndrome Presenting with a Giant Osteoma Ezzat E. Dawlatly, FRCSED, FRCS Abdul Aziz Al-Qurain, and MD, FACHARTZ Mohannad Salih-MahmudDMRD, FRCR Ezzat E. Dawlatly Address reprint requests and correspondence to Dr. Dawlatly: King Fahad Hospital of the University, P.O. Box 40008, Al-Khobar 31952, Saudi Arabia. From the Department of Otolaryngology, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia , Abdul Aziz Al-Qurain From the Department of Medicine, King Fahd Hospital of the University, Al-Khobar, Saudi Arabia , and Mohannad Salih-Mahmud From the College of Medicine, King Faisal University, Dammam, Saudi Arabia Published Online:1 Nov 1997https://doi.org/10.5144/0256-4947.1997.542SectionsPDF ToolsAdd to favoritesDownload citationTrack citations ShareShare onFacebookTwitterLinked InRedditEmail AboutIntroductionIn 1951, Gardner1 reported the association between surface tumors and colonic polyps that are prone to malignant degeneration. In 1952, Gardner and Plenk2 described the dominant hereditary pattern of multiple osteomas associated with colonic polyposis. And, a few months later, the report by Gardner and Richards3 of the association of multiple cutaneous and subcutaneous lesions with hereditary colonic polyposis and osteomatosis completed the description of the clinical syndrome that has come to bear Gardner's name.Gardner's syndrome, a hereditary dominant condition, comprises multiple osteomas, cutaneous and soft tissue tumors and polyposis coli. Less common features include hypertrophy of the pigment layer of the retina, thyroid tumors and liver tumors. The osteomas are largely confined to the skull bones. When long bones are involved, they show cortical thickening of their ends,4 and are sometimes shortened and deformed.5 Rarely do osteomas arise from the phalanges.6 The most commonly affected bones are the mandible and maxilla, followed by the frontal, sphenoid and ethmoid bones. Hence, most patients present to dental surgeons with problems of dentition and for aesthetic considerations.A computerized literature search for reports of Gardner's syndrome from the Indian subcontinent found only three isolated case reports, all bearing the same title of "Gardner's syndrome presenting with proptosis."7–9 No reports of the familial form of Gardner's syndrome were found. Gardner's syndrome has not been reported from the Arabian Peninsula either. This report describes the clinical and radiological findings in a patient who presented with a giant osteoma, and brings to light the full clinical picture of Gardner's syndrome.CASE REPORTA 34-year-old Pakistani male came to hospital complaining of foul nasal discharge. He had suffered from nasal obstruction and nasal discharge for 12 years. For two years, he had noticed an outward push of his right eye. There was no history of trauma or foreign body insertion in the nose. Examination showed fullness of the right cheek and lateral displacement of the right eye. Eye movement and vision were not affected. A white hard smooth mass was firmly impacted in the right nasal cavity pushing the nasal septum to the left, and causing total nasal obstruction on the right and subtotal obstruction on the left. It was not tender to percussion. Plain sinus x-rays (Figure 1) showed a giant osteoma filling the right nasal cavity, in addition to multiple small osteomas in the sinuses, and flat bones of the skull. This prompted a more detailed history, clinical examination and further investigations to confirm the radiologist's suspicion of Gardner's syndrome.Figure 1. Occipitofrontal view showing a giant osteoma completely filling the right nasalcavity. Smaller osteomas are visible in the left ethmoid, and left frontal bone above the outer margin of the orbit.Download FigureA detailed history revealed the existence of bony swellings in the forehead and skull from childhood. He had also suffered from intermittent mucus discharge with defecation for 12 years. And he had had two bouts of rectal bleeding two and eleven months prior to presentation. The blood was bright red and preceded bowel motion. He is married with three healthy children, and his parents are both alive and well, as are his three brothers and four sisters. His paternal grandparents died when his father was a child, and a blind paternal aunt died at age 24. His maternal grandfather died at an advanced age. His grandmother is alive and well.A detailed examination showed multiple cutaneous and subcutaneous swellings behind the right ear, in the back, and on the arms and legs. Multiple small osteomas were visible and palpable in the forehead (Figure 2), and around the wrists and knees bilaterally. Axial and coronal computed tomography (CT) scans of the sinuses showed a giant osteoma arising from the right sphenoid, ballooning the right nasal fossa and encroaching on the orbit and the maxillary antrum. Bone scan showed minimal uptake after 10 minutes in the right nasal fossa, which increased markedly after three hours, suggestive of mature bone. CT scan of the abdomen did not show evidence of soft tissue tumors intraperitoneally or retroperitoneally. Ultrasound scan of the neck showed normal size and echogenicity of the thyroid gland. Fundal examination showed no hypertrophy of retinal pigment layer.Figure 2. Close-up view of the patient, showing multiple small swellings in the forehead.Download FigureOn admission, hemoglobin was 146 g/L with normal indices. WBC was 9.1 x 109/L with eosinophilia of 1200 x 108/L. He had normal blood chemistry, sugar, proteins and liver functions. Double contrast barium enema was inconclusive. Colonoscopy up to 110 cm showed multiple smooth rounded pedunculated polyps 5-10 mm in diameter with marked inflammation of the colonic mucosa. The polyps were most florid in the sigmoid and descending colon. From the middle of the transverse colon proximally, few isolated polyps were seen. Histology showed tubular adenomas with some dysplastic changes.Through a lateral rhinotomy the osteoma was removed and the patient's airway re-established. The orbital periosteum was inadvertently opened. Postoperatively the patient had a dilated right pupil for 48 hours which recovered spontaneously. He made an uneventful recovery and now comes regularly for inspection of the cavity and removal of crusts. He was referred to a surgeon who has offered him prophylactic hemicolectomy, which the patient has so far declined. He is now on sulindac 200 mg twice daily.DISCUSSIONOsteomas, the most benign major feature of Gardner's syndrome, are fortunately the first sign to be noticed by the patient or by the parents of an affected child.6 In the patient reported, the multiple small bony swellings on his face and skull have been present since childhood. Even the nasal obstruction which was total on the right and subtotal on the left had been tolerated remarkably well.The large series of Childrey,10 Handousa AS,11 and Handousa BA,12 which showed osteomas to be the most common benign tumors of the nose and paranasal sinuses were published before the association of multiple osteomas with colonic polyposis had been reported. Series reported after Gardner's syndrome was described highlight this association.4,5Jones and Cornell6 report the average age when polyposis coli is diagnosed in Gardner's syndrome as 34 years. This patient's age at diagnosis was 34 years, though he had suffered for 12 years from mucus discharge and from two attacks of frank rectal bleeding in the 12 months prior to presentation. It is conceivable that if this patient had not been compelled to seek medical advice because of the complaints of his friends about the foul smell emanating from him, he might have presented in a few years' time with symptoms and signs of carcinoma of the colon. In all reported series of multiple osteomas associated with Gardner's syndrome, mandibular osteomas4–6 are the commonest and largest. In the extreme case reported by Fourcade of his own son in 1734 and reproduced by Plenk and Gardner5 from Cruveilhier's Atlas, the giant osteoma seen in the reconstructed saggital plane seems to involve the sphenoid, ethmoid, frontal and maxilla in one continuous sheet. This patient's osteoma maintained its attachment to the sphenoid and expanded into the right nasal cavity, maxillary antrum and orbit.Figure 3. Preoperative CT showing osteoma encroaching on the orbit and maxillar antrum and postoperative CT showing the extent of surgery.Download FigureThe unknown cause of death of the patient's paternal grandparents limited any serious attempt to study the possible existence of familial Gardner's syndrome with variable penetrance. And the absence of any evidence of the condition in seven siblings suggests that this is an isolated case of Gardner's syndrome, probably caused by genetic mutation. Genetic studies have now identified chromosome 5q21 region in the causation of familial polyposis coli and Gardner's syndrome.13 The high incidence of nasal and paranasal osteomas in Arabs,11,12 which are often incidental radiological findings, may cause some complacency on the part of the ENT surgeon practicing in the Arab World. In tropical and subtropical countries, diarrhea with mucus and/or blood is often arbitrarily managed as "dysentery." It is hoped that this report will help raise awareness of Gardner's syndrome, although it has so far not been reported from our part of the world.ARTICLE REFERENCES:1. Gardner EJ. "A genetic and clinical study of intestinal polyposis: a predisposing factor for carcinoma of the colon and rectum" . Am J Hum Genet. 1951; 3:167–76. Google Scholar2. Gardner EJ, Plenk HP. "Hereditary pattern for multiple osteomas in a family group" . Am J Hum Genet. 1952; 4:31–6. Google Scholar3. Gardner EJ, Richards RC. "Multiple cutaneous and sub-cutaneous lesions occurring simultaneously with hereditary polyposis and osteomatosis" . Am J Hum Genet. 1952; 5:139–47. Google Scholar4. Ziter FMH. "Roentgenographic findings in Gardner's syndrome" . JAMA. 1965; 192:158–60. Google Scholar5. Plenk HP, Gardner EJ. "Osteomatosis (Leontiasis Ossea): hereditary disease of membranous bone formation associated in one family with polyposis of the colon" . Radiology. 1954; 62:830–46. Google Scholar6. Jones EL, Cornell WP. "Gardner's syndrome, review of the literature and report on a family" . Arch Surg. 1966; 2:287–99. Google Scholar7. Jain MR, et al.. "Gardner's syndrome presenting with a unilateral proptosis" . Indian J Ophthalmol. 1981; 29:55–8. Google Scholar8. Kochhar R, Nehru V, Gupta NM, Mehra YN, Malik AD, Mehta SK. "Gardner's syndrome presenting with proptosis" . J Assoc Physicians India. 1987; 35:849–50. Google Scholar9. Tandon DA, Ghosh P, Tickoo SK, Bhargava DK. "Gardner's syndrome presenting with proptosis" . J Laryngol Otol. 1988; 102:1036–8. Google Scholar10. Childrey JH. "Osteoma of the sinuses, the frontal and the sphenoid bone" . Arch Otolaryngol. 1939; 30:63–72. Google Scholar11. Handousa AS. "Nasal osteomata" . J Laryngol Otol. 1940; 55:197–211. Google Scholar12. Handousa BA. "Primary benign neoplasms of the nose" . J Laryngol Otol. 1952; 66:421–36. Google Scholar13. Nakamura Y, Nishisho I, Kinzler KW, Vogelstein B, Miyoshi Y, Miki Y, et al.. "Mutations of the adenomatous polyposis coli gene in familial polyposis coli patients and sporadic colorectal tumors" . Princess Takamatsu Symposium, 1992; 22:285–292. Google Scholar Previous article Next article FiguresReferencesRelatedDetails Volume 17, Issue 5September 1997 Metrics History Received21 October 1996Accepted11 May 1997Published online1 November 1997 ACKNOWLEDGEMENTSWe are deeply indebted to the late Mr. Abdel Moniem El-Tayeb and to Mr. Gordon Ntow, both of the medical photography department of King Fahd Hospital of the University, for their help with the prints.InformationCopyright © 1997, Annals of Saudi MedicinePDF download