Cysts and Tumours of the Bony Facial Skeleton
John C Watkinson, Raymond W Clarke, Terry M Jones, Vinidh Paleri, Nicholas White, Tim Woolford in Head & Neck Surgery Plastic Surgery, 2018
Osteoma, a benign neoplasm of bone, is subclassified into ‘compact’ (cortical) and ‘cancellous’.34 They can be situated on the surface of the bone and present as hard swellings (exostosis) or alternatively, can exist purely within the substance of the bone (enostosis, dense bone island) and in the latter location would likely be an incidental radiological finding. Some probably represent developmental anomalies or reactive hyperplasias rather than true neoplasms, common examples being mandibular tori (bilateral exostoses on the lingual aspect of the mandible in the premolar region) and palatine torus (a mushroom-like swelling in the midline of the palate). The most common site for a true osteoma is in the paranasal sinuses. Generally, tori present in childhood and grow slowly, and can be removed for cosmetic reasons or before fitting a denture. Multiple osteomas may be the presenting features of Gardner syndrome (Figure 25.14),41 often leading to the diagnosis (and management by prophylactic colectomy) before adenocarcinomatous transformation of the familial colonic polyps.
The rectum
Professor Sir Norman Williams, Professor P. Ronan O’Connell, Professor Andrew W. McCaskie in Bailey & Love's Short Practice of Surgery, 2018
Colorectal cancer originates from premalignant precursor lesions in the epithelial lining of the colon or rectum in a stepwise progression that results in increasing dysplasia due to an accumulation of genetic abnormalities. In spontaneous colorectal cancer, as compared to hereditary cancers, this is referred to as the adenoma-carcinoma sequence. More than 75-95% of colorectal cancers occur in people with little or no genetic risk. People with inflammatory bowel disease are at an increased risk, which increases with the duration of the disease, and accounts for 2% of cancers each year. Those with a family history in two or more first-degree relatives have a two- to three-fold greater risk of disease and this group accounts for about 20% of all cases. A number of genetic syndromes are also associated with higher rates of colorectal cancer. The most common is hereditary nonpolyposis colorectal cancer (HNPCC or Lynch syndrome), which accounts for 3% of people with colorectal cancer. Other syndromes include Gardner syndrome and familial adenomatous polyposis (FAP).
Benign tumors
Rashmi Sarkar, Anupam Das, Sumit Sethi in Concise Dermatology, 2021
Firm, skin-colored papules or nodules containing keratin that are surrounded by a tough, fibrous capsule, presumably stimulated by leakage of the cyst contents. A keratin filled punctum may be present (Figure 12.37). If the cyst contents find their way into the dermis, considerable inflammation results. The horny content may eventually degenerate, forming a foul-smelling, semi-solid material. The fancied resemblance of this to sebum has mistakenly led to the term ‘sebaceous cysts’ for these lesions. Epidermoid cysts may occur anywhere but are most common over the head, neck, and upper trunk. Gardner syndrome, an autosomal dominant disorder representing familial adenomatous polyposis (FAP), is associated with multiple epidermoid cysts.
Mid-term results of MR-guided high-intensity focused ultrasound treatment for relapsing superficial desmoids
Published in International Journal of Hyperthermia, 2019
Arash Najafi, Bruno Fuchs, Christoph A. Binkert
Desmoid tumors (also known as aggressive fibromatosis) are rare locally infiltrative soft tissue tumors arising from musculoaponeurotic tissues with no known potential for metastasis. Tumor-related destruction of vital structures leads to morbidity and in case of organ destruction to mortality. Although they can occur at any age, most desmoids arise in individuals between the age of 15 and 60 years [1]. Based on location, desmoids are divided into extra-abdominal (trunk and extremities), also called superficial desmoids, and intra-abdominal tumors. Risk factors include prior trauma or surgery and pregnancy. In 5–15% of patients there is an association with familial adenomatous polyposis (FAP) called Gardner syndrome. These patients tend to develop abdominal desmoids (intra-abdominal or abdominal wall) [2,3]. With the increasing use of prophylactic colectomy, desmoids are now a more important cause of morbidity and mortality in this patient group [4].
Expression Levels of WNT Signaling Pathway Genes During Early Tooth Development
Published in Organogenesis, 2023
Yuhan Song, Fujie Song, Xuan Xiao, Zhifeng Song, Shangfeng Liu
Adenomatous polyposis coli (APC) gene encodes a tumor suppressor protein that acts as an antagonist of the Wnt signaling pathway. It is also involved in cell migration and adhesion, transcriptional activation, and apoptosis.61 Mutations in Apc may cause familial adenomatous polyposis (FAP), an autosomal dominant pre-malignant disease that usually progresses to malignancy.62 Besides, other diseases such as Gardner syndrome, which is characterized by the presence of multiple intracolonic polyps and extracolonic tumors, can also be caused by Apc mutation. Our previous study found that patients with Gardner syndrome also had multiple impacted and supernumerary teeth.16 We found that Apc was expressed at E14.5-P7 and there are up to 2037 different mutation forms in Apc, suggesting that Apc played an important role in all stages of early tooth development.
Torpedo-like lesions in the ocular fundi of Gardner syndrome: hiding in plain view
Published in Ophthalmic Genetics, 2021
Kirk Packo, Morton F. Goldberg
Gardner syndrome is a genetic variant of Familial Adenomatous Polyposis (FAP). Both systemic diseases are potentially fatal because of almost universal development of multiple intestinal carcinomas. Timely detection of characteristic darkly pigmented (usually black) fundus pigmentations can be life-saving (1). We therefore report specifically identifiable torpedo-like fundus pigmentations in Gardner syndrome/FAP, not only derived from our own experience, but also documented in fundus photographs of numerous previously published reports (Table 1). Most of these publications have excluded or ignored the torpedo-like lesions, despite their obvious presence, typical appearance, and potential value for the detection of the systemic disease known as Gardner Syndrome.
Related Knowledge Centers
- Aggressive Fibromatosis
- Fibroma
- Osteoma
- Polyp
- Thyroid Cancer
- Autosome
- Large Intestine
- Familial Adenomatous Polyposis
- Dominance
- Epidermoid Cyst