Síndrome de Gardner – relato de caso

The Gardner’s syndrome is described as a rare genetic disease resulting from mutations of the Adenomatous Polyposis Coli (APC) gene located in chromosome 5q21. This syndrome is a variant of familial adenomatous polyposis associated with intestinal polyps, mandible osteomas, epidermoid cysts, impacted teeth, and supernumerary among other clinical findings. The aim of this study is to report a clinical case of a 12-year-old female patient diagnosed with the Gardner’s syndrome who searched the Oral and Maxillofacial Surgery and Traumatology Service of Vitoria da Conquista General Hospital complaining of aesthetic alteration in the face. Clinically, there was a hardened mass in the mandibular body region in the right side, painless to palpation. Through computed tomography it was possible to identify the presence of bone lesions, the largest one located in the right mandibular body. With a diagnostic hypothesis of osteoma, the patient was submitted to surgery for mandible tumors resection with subsequent follow-up by the surgeon. The case highlights the importance of knowledge and proper management of the oral and maxillofacial alterations involved in this pathology.

Atypical Enostoses—Series of Ten Cases and Literature Review

Bone islands (BI; enostoses) may be solitary or occur in the setting of osteopoikilosis (multiple bone islands) and are sometimes associated with Gardner’s Syndrome (osteopoikilosis and colonic polyposis). Characteristic features of bone islands are (1) absence of pain or local tenderness, (2) typical radio dense central appearance with peripheral radiating spicules (rose thorn), (3) Mean CT (computerized tomography) attenuation values above 885 Hounsfield units (HU) (4) absence of uptake on bone scan and (5) radiographic stability over time. However, when enostoses display atypical features of pain, unusual radiographic appearance, aberrant HU, increased radiotracer uptake, and/or enlargement, they can be difficult to differentiate from more sinister bony lesions such as osteoblastic metastasis, low grade central osteosarcoma, osteoid osteoma and osteoblastoma. In this retrospective case series, the demographic, clinical, radiographic, treatment and outcome for ten patients with eleven atypical bone islands (ABI) are presented, some showing associated pain (5), some with atypical radiographic appearance (3), some with increased activity on BS (4), some with documented enlargement over time (7), one with abnormal CT attenuation value, some in the setting of osteopoikilosis (2), one in the setting of Gardner’s Syndrome and one osteoid osteoma simulating a bone island. This series represents the spectrum of presentations of ABI. Comprehensive review of the literature reveals that the previous largest series of ABI showing enlargement as the atypical feature was in younger patients with jaw BI. Hence, this represents one of the largest series reported of ABI of all types in adults.

Gardner’s syndrome (literature review and case report)

Gardner’s syndrome is a genetically determined disease characterized by a combination of colon polyposis, osteomas, and various soft tissue tumors. In this article, we discuss disease epidemiology, etiology, manifestations, and treatment methods. We also report a case of Gardner’s syndrome.

Bifocal parosteal osteoma of femur: A case report and review of literature

Osteoma is a benign, slowly growing, asymptomatic, bone-forming tumor arising from cancellous or compact bone. Osteoma usually is a solitary lesion, but in patients with Gardner’s Syndrome it may be multiple. osteoma may rarely have a parosteal localization. Parosteal osteoma has peculiar radiographic, histologic and clinical features. We describe a case report of a 51- years old man with a bifocal parosteal osteoma of the femur in a non-syndromic patient. This is the first described patient with a bifocal lesion. In literature only 24 cases of paraosteal osteoma are found. Our patient underwent surgery and the lesions were fully excised. At one year follow-up there was no evidence of recurrence.

A Case of Early FAP Diagnosis with Extraintestinal Manifestations on the Face

<p><strong>Objective. </strong>Gardner’s syndrome is a variant of familial adenomatous polyposis, characterized by gastrointestinal polyps, multiple osteomas, and skin and soft tissue lesions. Diagnosis by means of an understanding of its various symptoms is of great importance.</p><p><strong>Case report. </strong>This report presents the case of a 32-year-old man with obvious asymmetry and disfigurement on his face, due to multiple osteomas and soft tissue lesions. These clinical signs prompted us to further investigation, leading to the diagnosis of a case of Gardner’s syndrome, with asymptomatic polyposis of the colon. Polyps have virtually an almost 100% risk of undergoing malignant transformation.</p><p><strong>Conclusion. </strong>Early diagnosis and treatment of this pathological entity are crucial, while the presence of osteomas should alert us to this diagnosis.</p>