Gardner's syndrome is a subtype of familial adenomatous polyposis (FAP). Gardner syndrome is an autosomal dominant form of polyposis characterized by the presence of multiple polyps in the colon together with tumors outside the colon. The extracolonic tumors may include osteomas of the skull, thyroid cancer, epidermoid cysts, fibromas, as well as the occurrence of desmoid tumors in approximately 15% of affected individuals.
Fibromas are benign tumors that are composed of fibrous or connective tissue. They can grow in all organs, arising from mesenchyme tissue. The term "fibroblastic" or "fibromatous" is used to describe tumors of the fibrous connective tissue. When the term fibroma is used without modifier, it is usually considered benign, with the term fibrosarcoma reserved for malignant tumors.
In medicine, Meigs's syndrome, also Meigs syndrome or Demons–Meigs syndrome, is the triad of ascites, pleural effusion, and benign ovarian tumor. Meigs syndrome resolves after the resection of the tumor. Because the transdiaphragmatic lymphatic channels are larger in diameter on the right, the pleural effusion is classically on the right side. The causes of the ascites and pleural effusion are poorly understood. Atypical Meigs syndrome, characterized by a benign pelvic mass with right-sided pleural effusion but without ascites, can also occur. As in typical Meigs syndrome, pleural effusion resolves after removal of the pelvic mass.
Aggressive fibromatosis or desmoid tumor is a rare condition. Desmoid tumors are a type of fibromatosis and related to sarcoma, though without the ability to spread throughout the body (metastasize). The tumors arise from cells called fibroblasts, which are found throughout the body and provide structural support, protection to the vital organs, and play a critical role in wound healing. These tumors tend to occur in women in their thirties, but can occur in anyone at any age. They can be either relatively slow-growing or malignant. However, aggressive fibromatosis is locally aggressive and can cause life-threatening problems or even death when the tumors compress vital organs such as intestines, kidneys, lungs, blood vessels, or nerves. Most cases are sporadic, but some are associated with familial adenomatous polyposis (FAP). Approximately 10% of individuals with Gardner's syndrome, a type of FAP with extracolonic features, have desmoid tumors.
Necrolytic migratory erythema is a red, blistering rash that spreads across the skin. It particularly affects the skin around the mouth and distal extremities; but may also be found on the lower abdomen, buttocks, perineum, and groin. It is strongly associated with glucagonoma, a glucagon-producing tumor of the pancreas, but is also seen in a number of other conditions including liver disease and intestinal malabsorption.
An ameloblastic fibroma is a fibroma of the ameloblastic tissue, that is, an odontogenic tumor arising from the enamel organ or dental lamina. It may be either truly neoplastic or merely hamartomatous. In neoplastic cases, it may be labeled an ameloblastic fibrosarcoma in accord with the terminological distinction that reserves the word fibroma for benign tumors and assigns the word fibrosarcoma to malignant ones. It is more common in the first and second decades of life, when odontogenesis is ongoing, than in later decades. In 50% of cases an unerupted tooth is involved.
Angiofibroma (AGF) is a descriptive term for a wide range of benign skin or mucous membrane lesions in which individuals have: 1) benign papules, i.e. pinhead-sized elevations that lack visible evidence of containing fluid; 2) nodules, i.e. small firm lumps usually >0.1 cm in diameter; and/or 3) tumors, i.e. masses often regarded as ~0.8 cm or larger. AGF lesions share common macroscopic and microscopic appearances. Grossly, AGF lesions consist of multiple papules, one or more skin-colored to erythematous, dome-shaped nodules, or usually just a single tumor. Microscopically, they consist of spindle-shaped and stellate-shaped cells centered around dilated and thin-walled blood vessels in a background of coarse bundles of collagen. Angiofibromas have been divided into different types but commonly a specific type was given multiple and very different names in different studies. The following list gives a brief description of the AFG types and their alternate names.
Infantile digital fibromatosis (IDF), also termed inclusion body fibromatosis, Reye tumor, or Reye's tumor, usually occurs as a single, small, asymptomatic, nodule in the dermis on a finger or toe of infants and young children. IMF is a rare disorder with approximately 200 cases reported in the medical literature as of 2021. The World Health Organization in 2020 classified these nodules as a specific benign tumor type in the category of fibroblastic and myofibroblastic tumors. IDF was first described by the Australian pathologist, Douglas Reye, in 1965.
Elastofibroma dorsi is an ill-defined fibroelastic tumor-like condition made up of enlarged and irregular elastic fibers. The World Health Organization, 2020, has classified elastofibroma tumors as one specific type of the fibroblastic and myofibroblastic tumors.
Fibrous hamartoma of infancy (FHI) is a rare, typically painless, benign tumor that develops in the subcutaneous tissues of the axilla, arms, external genitalia, or, less commonly, various other areas. It is diagnosed in children who are usually less than 2 years old or, in up to 20% of cases, develops in utero and is diagnosed in an infant at birth.
Diffuse infantile fibromatosis is a rare condition affecting infants during the first three years of life. This condition is a multicentric infiltration of muscle fibers with fibroblasts resembling those seen in aponeurotic fibromas, presenting as lesions and tumors confined usually to the muscles of the arms, neck, and shoulder area Diffuse infantile fibromatosis is characterized by fast growing benign tumors. This disorder is known to be caused by mutations in germline variants, PDGFRB and NOTCH3, which may be generationally-inherited through autosomal dominant and recessive traits. Although diffuse infantile fibromatosis is classified as benign, it can still lead to life-threatening complications and damage other organs.
Koenen's tumor (KT), also commonly termed periungual angiofibroma, is a subtype of the angiofibromas. Angiofibromas are benign papule, nodule, and/or tumor lesions that are separated into various subtypes based primarily on the characteristic locations of their lesions. KTs are angiofibromas that develop in and under the toenails and/or fingernails. KTs were once considered as the same as another subtype of the angiofibromas viz., acral angiofibromas. While the literature may still sometimes regard KTs as acral angiofibromas, acral angiofibromas are characteristically located in areas close to but not in the toenails and fingernails as well as in the soles of the feet and palms of the hands. KTs are here regarded as distinct from acral angiofibromas.
Fibroma of tendon sheath is a benign tumor that presents as a small subcutaneous nodule that slowly increases in size. The tumors often have a multinodular growth pattern, with individual nodules being composed of bland, slender, spindle-shaped cells (myofibroblasts) in a dense, fibrous matrix.” A common microscopic finding is the presence of elongated, slit-like blood vessels. The lesions nearly always arise in the distal portions of the extremities. They often occur on the fingers, hands, toes, or feet. Although they are benign, they may recur in up to 40% of cases.
Cardiac fibroma, also known as cardiac fibromatosis, cardiac fibrous hamartoma, fibroelastic hamartoma of heart and fibroma of heart is the second highest type of primary cardiac tumor seen in infants and children. This benign tumor made by connective tissue and fibroblast is largely observed in the ventricles of the heart. The left ventricle is the most common location of cardiac fibroma and accounts for approximately 57% of cardiac fibroma cases followed by the right ventricle with 27.5% of cases. Symptoms of the disease depend on the size of the tumor, its location relative to the conduction system, and whether it obstructs blood flow. Two-thirds of children with this tumor are asymptomatic, showing no signs and symptoms. Therefore the cause of cardiac fibroma is unexplained but has been associated with Gorlin Syndrome. Echocardiography is the primarily diagnostic method used to detect if an individual has cardiac fibroma. Resection of the tumor is recommended however heart transplantation is done if surgery is not possible. Overall prognosis of resection is favorable and the chance of recurrence is scarcely reported.
The ovarian fibroma, also fibroma, is a benign sex cord-stromal tumour.
Mammary-type myofibroblastoma (MFB), also named mammary and extramammary myofibroblastoma, was first termed myofibrolastoma of the breast, or, more simply, either mammary myofibroblastoma (MMFB) or just myofibroblastoma. The change in this terminology occurred because the initial 1987 study and many subsequent studies found this tumor only in breast tissue. However, a 2001 study followed by numerous reports found tumors with the microscopic histopathology and other key features of mammary MFB in a wide range of organs and tissues. Further complicating the issue, early studies on MFB classified it as one of various types of spindle cell tumors that, except for MFB, were ill-defined. These other tumors, which have often been named interchangeably in different reports, are: myelofibroblastoma, benign spindle cell tumor, fibroma, spindle cell lipoma, myogenic stromal tumor, and solitary stromal tumor. Finally, studies suggest that spindle cell lipoma and cellular angiofibroma are variants of MFB. Here, the latter two tumors are tentatively classified as MFB variants but otherwise MFB is described as it is more strictly defined in most recent publications. The World Health Organization in 2020 classified mammary type myofibroblastoma tumors and myofibroblastoma tumors as separate tumor forms within the category of fibroblastic and myofibroblastic tumors.
A juvenile active ossifying fibroma is a benign fibro-osseous neoplasm composed of mixture of stroma and bone characterized by rapid and destructive growth.
Fibroblastic and myofibroblastic tumors (FMTs) develop from the mesenchymal stem cells which differentiate into fibroblasts and/or the myocytes/myoblasts that differentiate into muscle cells. FMTs are a heterogeneous group of soft tissue neoplasms. The World Health Organization (2020) defined tumors as being FMTs based on their morphology and, more importantly, newly discovered abnormalities in the expression levels of key gene products made by these tumors' neoplastic cells. Histopathologically, FMTs consist of neoplastic connective tissue cells which have differented into cells that have microscopic appearances resembling fibroblasts and/or myofibroblasts. The fibroblastic cells are characterized as spindle-shaped cells with inconspicuous nucleoli that express vimentin, an intracellular protein typically found in mesenchymal cells, and CD34, a cell surface membrane glycoprotein. Myofibroblastic cells are plumper with more abundant cytoplasm and more prominent nucleoli; they express smooth muscle marker proteins such as smooth muscle actins, desmin, and caldesmon. The World Health Organization further classified FMTs into four tumor forms based on their varying levels of aggressiveness: benign, intermediate, intermediate, and malignant.
Ischemic fasciities (IF), also termed atypical decubital fibroplasia or decubital ischemic fasciitis, is a rare pseudosarcomatous tumor. It was first described by E. A. Montgomery et al. in 1992. This tumor typically forms in the subcutaneous tissues that overlie bony protuberances such as a hip in individuals who are debilitated and bed-ridden.
Gardner fibroma (GF) is a benign fibroblastic tumor. GF tumors typically develop in the dermis and adjacent subcutaneous tissue lying just below the dermis. These tumors typically occur on the back, abdomen, and other superficial sites but in rare cases have been diagnoses in internal sites such as the retroperitoneum and around the large blood vessels in the upper thoracic cavity. The World Health Organization, 2020, classified Gardner fibroma as a benign tumor in the category of fibroblastic and myofibroblastic tumors.
