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

2019 ◽  
Vol 48 (2) ◽  
pp. 217
Author(s):  
Vasilios Thomaidis ◽  
Konstantinos Seretis ◽  
Gregory Tsoucalas ◽  
Konstantinos Razos ◽  
Anastasios Vasilopoulos ◽  
...  

<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>

2012 ◽  
Vol 01 (01) ◽  
pp. 43-47 ◽  
Author(s):  
Sachin B. Punatar ◽  
Vanita Noronha ◽  
Amit Joshi ◽  
Kumar Prabhash

AbstractGardner′s syndrome is a variant of familial adenomatous polyposis. A multitude of extra-colonic manifestations including various endocrine tumors have been associated with this syndrome, the commonest of which is thyroid cancer. Majority of the patients with thyroid cancer and Gardner′s syndrome are females. Here we describe a male patient with Gardner′s syndrome who subsequently developed thyroid cancer.


2020 ◽  
Vol 10 (2) ◽  
pp. 47-52
Author(s):  
I. L. Chernikovskiy ◽  
D. N. Korobkov ◽  
N. V. Savanovich ◽  
D. A. Chernikov ◽  
P. V. Melnikov ◽  
...  

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.


2014 ◽  
Vol 109 ◽  
pp. S425
Author(s):  
Nimal Patel ◽  
Dominic Colella ◽  
Farhan Israr ◽  
Michael Valladares ◽  
Juan Sarol ◽  
...  

2013 ◽  
Vol 2 (2) ◽  
pp. 197-199
Author(s):  
K Ahmad ◽  
S Ansari ◽  
K Dhungel ◽  
MK Gupta ◽  
MF Amanullah ◽  
...  

Osteomyelitis of the mandible is a rare condition and it could be a serious complication of untreated odontogenic infection. Classically, patient with osteomyelitis of the mandible would experience pain and swelling over the affected side of the face. CT is usually indicated when there is extension of the infection into the adjacent soft tissue and fascial spaces which could be the presenting clinical symptom. Hereby, we present a case of mandibular osteomyelitis in an 11 year old girl who presented with pain and swelling in left lower jaw followed by extraction of tooth, diagnosed on CT followed by surgical management. Nepal Journal of Medical Sciences | Volume 02 | Number 02 | July-December 2013 | Page 197-199  DOI: http://dx.doi.org/10.3126/njms.v2i2.8978  


2020 ◽  
Author(s):  
Raffaele Vitiello ◽  
Tommaso Greco ◽  
Luigi Cianni ◽  
Silvia Careri ◽  
Maria Serena Oliva ◽  
...  

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.


2009 ◽  
Vol 10 (1) ◽  
pp. 82-90 ◽  
Author(s):  
Wilson Denis Martins ◽  
Marina de Oliveira Ribas ◽  
Guilherme Martins ◽  
Maria Helena de Sousa ◽  
Ana Claudia Galvão de Aguiar Koubik ◽  
...  

Abstract Aim The aim of this case report is to emphasize the importance of an early diagnosis of Gardner's syndrome through the detection of lesions appearing in the oral and maxillofacial area as well as to present two cases of the disease. Background Gardner's syndrome is an autosomal dominant disease characterized by gastrointestinal polyps that develop in the colon as well as in the stomach and upper intestine, along with multiple osteomas, skin, and soft tissue tumors. Cutaneous findings may include desmoid tumors, epidermoid cysts, and other benign tumors. Early diagnosis and therapy of the disease are critical because polyps have a 100% risk of undergoing malignant transformation. Craniomaxillofacial manifestations (osteoma formation, tooth impaction, diffuse opacities in the skull, mandible and maxilla, scalp tumors) usually precede polyposis. Report Case 1: Gardner's syndrome was diagnosed in a 25-year-old Caucasian man who was referred by his endodontist for evaluation of an uncommon radiographic image in the mandibular molar area. Further investigation revealed a familial adenomatous polyposis (FAP) complicated by adenocarcinoma of the colon. A colectomy and an ileorectal anastomosis were performed. Case 2: A 12-year-old Caucasian girl, who is a niece of the patient described in Case 1, presented with progressive difficulty with mouth opening but no complaints of digestive problems. Radiographic examination revealed multiple radiopacities in the maxilla, mandible left temporomandibular joint, and in the left mandibular angle. Multiple impacted teeth were present. A colonoscopy was suggested, but the patient's parents decided to continue the investigation and treatment with their own physician in their home town. Summary Since an early diagnosis is essential and general dental practitioners may be the first healthcare professionals to suspect the diagnosis, it is important for them to be familiar with the features of Gardner's syndrome. Citation de Oliveira Ribas M, Martins WD, de Sousa MH, de Aguiar Koubik ACG, Ávila LFC, Zanferrari FL, Martins G. Oral and Maxillofacial Manifestations of Familial Adenomatous Polyposis (Gardner's syndrome): A Report of Two Cases. J Contemp Dent Pract 2009 January; (10)1:082-090.


Foot & Ankle ◽  
1986 ◽  
Vol 6 (4) ◽  
pp. 199-207
Author(s):  
Steven B. Carlow ◽  
Richard L. Jacobs ◽  
Danica K. Vedder

Necrotizing fasciitis must be considered in a diabetic with cutaneous ulceration. A case report of limb salvage in a 48-year-old diabetic female with progressive necrotizing fasciitis is presented. Methods of early diagnosis including clinical signs, radiographs, and soft tissue biopsy of the involved extremity are reviewed. The microbiology of the disease is also discussed. A modification of the Orr technique using infrequent dressing changes in the management of necrotizing fasciitis is presented. In our case this resulted in preservation of life and a functional limb.


2003 ◽  
Vol 44 (2) ◽  
pp. 158-159 ◽  
Author(s):  
K. Chelaifa ◽  
K. Bouzaidi ◽  
S. Chouaib ◽  
O. Azaiz ◽  
M. Ben Messaoud ◽  
...  

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