Gardner's syndrome with bilateral osteomas of coronoid process resulting in limited opening.

Gardner’s syndrome is characterized by a triad of intestinal polyposis, which ultimately become malignant, soft-tissue neoplasms such as desmoid tumors and fibromas, and osteomas, particularly of the skull and facial bones. A case report of bilateral osteomas of the coronoid process resulting in limited incisal opening in a 12-year-old girl and review of the pertinent literature is presented. Gardner’s syndrome is a clinicopathologic entity of interest to the dental and medical professions and is characterized by intestinal polyposis, osteomatosis, and multiple soft-tissue neoplasms (Gardner and Richards 1953). Although many case reports described patients with some or all of the features of the triad, it was not until Gardner and others 1 documented several kindred in the early 1950s that the syndrome was well defined. Fader et al. (1962) and Fitzgerald (1943) described the facial and oral aspects of the disease which includes osteomas, impacted primary and permanent teeth, and supernumerary teeth. The etiology is through an autosomal dominant pattern of inheritance, with a high degree of peneo trance. 2 The disease has been diagnosed from ages 2 through 70, with the prevalence reported at 1:14,000 (Bochetto et al. 1963; Pierce et al. 1970). Since the oral findings serve as an indicator of the underlying intestinal polyposis which has a malignant propensity of 100% by age 50, the syndrome is of acute interest to the dental profession. 3 This report describes an Gardner 1951, 1962; Gardner and Richards 1953; Gardner and Stephens 1950; Gardner and Woolf 1952; Gardner and Plenk 1952; Rayne 1968. Gardner 1951; Coli et al. 1970; Collins 1959; Duncan et al. 1968; Hughes and Heuston 1960. Lindqvist et al. 1983; Jones and Cornell 1966; Ida et al. 1981; Jarvinen et al. 1982. unusual presenting oral feature which ultimately led to the diagnosis of Gardner’s syndrome. Clinical Manifestations The diagnosis of Gardner’s syndrome can be confirmed on the basis of 3 major symptoms: intestinal polyposis, osteomatosis, and soft-tissue neoplasms. This diagnosis is further supported by abnormal dental findings, the hereditary nature of the disease, and ophthalmologic abnormalities. The most serious aspect of the syndrome is intestinal polyposis which is predisposed to malignant transformation to adenocarcinoma at approximately 34 years (Dukes 1952). The polyps occur before puberty and become generalized in the late teens and early twenties (Coli 1970). The polyps are multiple and scattered, occurring at any location in the gastrointestinal tract, particularly in the distal colon, with a few cases of small bowel mucosal involvement. 4 The symptoms may include diarrhea, passage of blood or mucosa, and cramp-like abdominal pain (Gumpel and Carballo 1956). Surgical intervention is required as preventive measure (Jones and Cornell 1966). Osteomas consist of dense bony proliferations of histologically normal membranous bone which vary from slight thickening to large masses and may affect all parts of the skeleton (Weary et al. 1964; Chang et al. 1968). Between 50 and 80% of patients are affected, showing an average number of 5.9 osteomas per person with the frontal bones as the most frequent site. s The 2 different general types of osteoma are: a protuberant mass with a broad base which presents as a palpable lump; and a sessile mass which projects into the paranasal sinus. In the mandible, the 2 types of Coli et al. 1970; MacDonald et al. 1967; Gumpel and Carballo 1956. Rayne 1968; Ida et al. 1981; Chang et al. 1968. PEDIATRIC DENTISTRY: March 1987/Vol. 9 No. 1 53 FIG 1. Normal fades in a 12-year-old with Gardner's syndrome. osteomas occur centrally or lobulated on the cortex. A centrally located osteoma appears as a mass near the roots of teeth, whereas a lobulated osteoma arises from the cortex, characteristically at the mandibular angle (Chang et al. 1968). Generally, the osteomas grow slowly, reaching a stationary size, and then become dormant, although actively growing fibre-osseous tumors of the mandible have been reported. Since osteomas may precede polyp formation and are a useful predictor, it has been recommended to include a panoramic radiograph as a screening procedure in all patients suspected of having the syndrome (Ida et al. 1981; Jarvinen et al. 1982). The most frequent soft-tissue neoplasm is the epidermoid inclusion cyst, usually found on the face or extremities (Jones and Cornell 1966; Jarvinen et al. 1982). Also reported are lipomas, leiomyomas, and neurofibromas (Gumpel and Carballo 1956; Laberge et al. 1957). Desmoid tumors or aggressive fibromatosis, which frequently appear in abdominal scar tissue, are found in 17% of patients with Gardner's syn6 Coli et al. 1970; Weary et al. 1964; Small et al. 1980. FIG 2. Limited incisal opening of 12 mm. drome. Since they can compress and infiltrate muscle, desmoid tumors are considered locally invasive (Coli et al. 1970; Jones and Cornell 1966). The skin cysts may appear before intestinal polyps and are useful as a predictor (Leppard and Bussey 1975). More than 50% of patients with Gardner's syndrome exhibit abnormal dental findings (Chang et al. 1968). Single or multiple supernumerary teeth are a common finding as well as the presence of hypercementosis. Changes in trabecular bone pattern, impacted and unerupted teeth have been reported. Ankylosis and difficulty in extraction of erupted teeth have been reported (Fitzgerald 1943; Amato and Small 1970). Several reports of chronic osteomyelitis are suggestive of an association with Gardner's syndrome (Fader et al. 1962; Calhoun et al. 1957). Multiple and bilateral patches of congenital hypertrophy of the retinal pigment epithelium have been related to the Gardner's syndrome gene and may be useful in identifying patients at risk (Lewis et al. 1984; Blair and Trempe 1980). Since the etiology is through an autosomal dominant pleiomorphic gene with a high degree of penetrance, a complete family history is very important to the diagnosis. Other genetic neoplasms have been reported in Gardner's syndrome, such as 1 case of thyroid papillary adenocarcinoma in a family (Comiel et al. 1968).