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Giant-cell fibroma is a type of fibroma not associated with trauma or irritation. It can occur at any age and on a mucous membrane surface. The most common oral locations are on the gingiva of the mandible, tongue, and palate. It is a localized reactive proliferation of fibrous connective tissue.
Giant-cell fibroma (GCF) is a benign non-neoplastic lesion first described by Weathers and Callihan (1974). It occurs in the first three decades of life and predominates in females (Houston, 1982; Bakos, 1992). Clinically, the GCF presents as an asymptomatic, papillary and pedunculated lesion. The most predominant location is the mandibular gingiva (Houston, 1982; Bakos, 1992). Histologically, the GCF is distinctive, consisting of fibrous connective tissue without inflammation and covered with stratified squamous hyperplastic epithelium. The most characteristic histological feature is the presence of large spindle-shaped and stellate-shaped mononuclear cells and multinucleated cells. These cells occur in a variety of lesions, such as the fibrous papule of the nose, ungual fibroma, acral fibrokeratoma, acral angiofibroma and desmoplastic fibroblastoma (Swan, 1988; Pitt et al., 1993; Karabela-Bouropoulou et al., 1999; Jang et al., 1999).
Despite many studies, the nature of the stellated multinucleate and mononuclear cell is not clear (Weathers and Campbell, 1974; Regezi et al., 1987; Odell et al., 1994; Magnusson and Rasmusson, 1995).
PCNA and Ki67 immunoreactivity happens in case of fibroma and peripheral granuloma.
Desmoplastic trichoepithelioma is benign tumor and can be managed safely with surgical removal, electrodesiccation and curettage.
Multiple cutaneous leiomyomas, also known as Pilar leiomyomas, arise from the arrectores pilorum muscles, and are made up of a poorly circumscribed proliferation of haphazardly arranged smooth muscle fibers located in the dermis that appear to infiltrate the surrounding tissue and may extend into the subcutis.
Sometimes associated with uterine leiomyomas (a combination known as multiple cutaneous and uterine leiomyomatosis, MCUL), these lesions may also be a manifestation of the hereditary leiomyomatosis and renal cell cancer syndrome.
In dermatologic pathology, a dermal cylindroma, also dermal eccrine cylindroma or Cutaneous Cylindroma) and (less specifically) cylindroma, is a benign adnexal tumor, which occurs on the scalp and forehead.when multiple Cylindroma-Show Hat like configration.
Multiple cylindromas may grow together in a "hat-like" configuration, sometimes referred to as a turban tumor. Cylindromas are uncommon dysplasias of skin appendages.
Rombo syndrome is a very rare genetic disorder characterized mainly by atrophoderma vermiculatum of the face, multiple milia, telangiectases, acral erythema, peripheral vasodilation with cyanosis and a propensity to develop basal cell carcinomas.
The lesions become visible in late childhood, began at ages 7 to 10 years and are most pronounced on the face, At that time a pronounced, somewhat cyanotic redness of the lips and hands was evident as well as moderate follicular atrophy of the skin on the cheeks. In adulthood, whitish-yellow, milia-like papules and telangiectatic vessels developed. The papules were present particularly on the cheeks and forehead, gradually becoming very conspicuous and dominating the clinical picture. Trichoepitheliomas were found in 1 case. In adults, the eyelashes and eyebrows were either missing or irregularly distributed with defective and maldirected growth. Basal cell carcinomas were a frequent complication. The skin atrophy was referred to as vermiculate atrophoderma. Basal cell carcinomas may develop around the age of 35. Histological observations during the early stage include irregularly distributed and atrophic hair follicles, milia, dilated dermal vessels, lack of elastin or elastin in clumps. After light irradiation a tendency to increased repair activity was observed both in epidermis and in the dermal fibroblasts.
Histologic sections showed the dermis to be almost devoid of elastin in most areas with clumping of elastic material in other areas. The disorder had been transmitted through at least 4 generations with instances of male-to-male transmission.
Dermal cylindromas are:
- dermal lesions consisting of nests of cells that are surrounded by hyaline (i.e. glassy, eosinophilic, acellular) material and have:
- hyperchromatic nuclei that may palisade (columnar nuclei arranged around the periphery of the cells nests - with their short axis tangential to the nest periphery), and
- cells with lighter staining ovoid nuclei at their centre.
They lack of a significant number of lymphocytes; this differentiates them from spiradenomas.
Birt–Hogg–Dubé syndrome affects the skin and increases the risk of tumors in the kidneys and lungs. The condition is characterized by multiple noncancerous dome-shaped tumors of the hair follicles (fibrofolliculomas), particularly on the face, neck, and—more rarely—the upper chest. The fibrofolliculomas are generally described as having an opaque white color or a yellowish tone and have a waxy, smooth texture. The tumors are always found on and around the nose and on and behind the outer ear. Typically, they first appear in a person's 20s or 30s, and are found in more than 80% of people with the syndrome above the age of 40. The tumors become larger and more numerous over time. Tumors differ between individuals: they may appear merged in plaques, look similar to a comedo with a plug of keratin, or include epidermoid cysts. A large number of tumors on the face can be associated with hyperseborrhea (abnormally elevated sebum production). The presence of fibrofolliculomas on a person's face can cause significant psychological distress.
Other tumors can include trichodiscomas (tumors of the hair disc, which may be identical to fibrofolliculomas), angiofibromas, and perifollicular fibromas. However, angiofibromas are more common in tuberous sclerosis. Along with the tumors, other skin conditions are seen in people with Birt–Hogg–Dubé syndrome. Approximately 40% of people or families with the disease have papules in their mouth, which can be located on the cheeks (buccal mucosa), tongue, gums, or lips. Either white or mucosa-colored, they are discrete, small, and soft and consist of fibrous tissue covered in thickened epithelium. Collagenomas of the skin are also found in some families. Many people with BHD have skin lesions that appear to be acrochordons (skin tags), but may instead be fibrofolliculomas. These lesions are usually found in the armpit, on the eyelids, and in folds of skin. Not all individuals develop the facial tumors; some families with the mutation that causes BHD develop only kidney tumors or spontaneous pneumothorax.
Ameloblastomas are often associated with the presence of unerupted teeth. Symptoms include painless swelling, facial deformity if severe enough, pain if the swelling impinges on other structures, loose teeth, ulcers, and periodontal (gum) disease. Lesions will occur in the mandible and maxilla, although 75% occur in the ascending ramus area and will result in extensive and grotesque deformities of the mandible and maxilla. In the maxilla it can extend into the maxillary sinus and floor of the nose. The lesion has a tendency to expand the bony cortices because slow growth rate of the lesion allows time for periosteum to develop thin shell of bone ahead of the expanding lesion. This shell of bone cracks when palpated and this phenomenon is referred to as "Egg Shell Cracking" or crepitus, an important diagnostic feature. Ameloblastoma is tentatively diagnosed through radiographic examination and must be confirmed by histological examination (e.g., biopsy).
Desmoplastic melanoma (also known as a "Neurotropic melanoma," or "Spindled melanoma") is a rare cutaneous condition characterized by a deeply infiltrating type of melanoma with an abundance of fibrous matrix. It usually occurs in the head and neck region of older people with sun-damaged skin. Diagnosis can be difficult as it has a similar appearance to sclerosing melanocytic nevi as well as some nonmelanocytic skin lesions such as scars, fibromas, or cysts.
Desmoplastic melanomas tend to recur locally, with distant metastasis being less common.
Trichoepithelioma is a neoplasm of the adnexa of the skin. Its appearance is similar to basal cell carcinoma.
One form has been mapped to chromosome 9p21.
There are three main clinical subtypes of ameloblastoma: unicystic, multicystic, peripheral. The peripheral subtype composes 2% of all ameloblastomas. Of all ameloblastomas in younger patients, unicystic ameloblastomas represent 6% of the cases. A fourth subtype, malignant, has been considered by some oncologic specialists, however, this form of the tumor is rare and may be simply a manifestation of one of the three main subtypes.
Ameloblastoma also occurs in long bones, and another variant is craniopharyngioma (Rathke's pouch tumour, pituitary ameloblastoma).
Some or all of the following may be seen in someone with Gorlin syndrome:
1. Multiple basal-cell carcinomas of the skin
2. Keratocystic odontogenic tumor: Seen in 75% of patients and is the most common finding. There are usually multiple lesions found in the mandible. They occur at a young age (19 yrs average).
3. Rib and vertebrae anomalies
4. Intracranial calcification
5. Skeletal abnormalities: bifid ribs, kyphoscoliosis, early calcification of falx cerebri (diagnosed with AP radiograph)
6. Distinct faces: frontal and temporoparietal bossing, hypertelorism, and mandibular prognathism
7. Bilateral ovarian fibromas
8. 10% develop cardiac fibromas
People over 20 years of age with Birt–Hogg–Dubé syndrome have an increased risk of developing slow-growing kidney tumors (chromophobe renal carcinoma and renal oncocytoma, respectively), kidney cysts, and possibly tumors in other organs and tissues. These tumors often occur in both kidneys and in multiple locations in each kidney. The average number of kidney tumors found in a person with BHD is 5.3, though up to 28 tumors have been found. Hybrid oncocytoma/chromophobe carcinoma, found in 50% of cases, is the most commonly found cancer, followed by chromophobe renal carcinoma, clear cell renal carcinoma, renal oncocytoma, and papillary renal cell carcinoma. People over 40 years old and men are more likely to develop kidney tumors, which are diagnosed at a median age of 48. Kidney cancer associated with BHD have been diagnosed in people at ages as young as 20.
In general, people with Birt–Hogg–Dubé syndrome are at roughly seven times the risk of kidney cancer compared to the unaffected population. Estimates of the incidence among people with the disease range from 14%–34%. Rarely, it is associated with clear cell renal cell carcinoma and papillary renal cell carcinoma. If it develops in someone with BHD, renal cell carcinoma occurs later in life and has a poor prognosis. Though the types of tumor typically associated with BHD are considered less aggressive, cases of advanced or metastatic kidney cancer have been observed in people with the syndrome. Both benign and cancerous tumors can reduce kidney function over time as they grow larger.
Brooke-Spiegler syndrome is a condition where multiple skin tumors develop from skin structures. Tumors commonly occurring in this syndrome include spiradenomas, trichoepitheliomas, and cylindromas. The tumors are generally benign, but may become malignant. Affected individuals are also at increased risk of developing tumors in tissues other than skin – particularly benign or malignant tumors of the salivary glands.
Tumours in Brooke-Spiegler typically appear in early adulthood and are most often found on the head and neck. In severe cases, the tumors may affect vision or hearing. They can be disfiguring and may contribute to depression or other psychological problems. For unclear reasons, females are often more severely affected than males.
Brooke-Spiegler is rare and its exact incidence is unknown.
It is inherited in an autosomal dominant fashion.
The classification of this syndrome is difficult. Three conditions are known to be caused by mutations in the" CYLD" gene: Brooke-Spiegler syndrome, multiple familial trichoepithelioma, and familial cylindromatosis. Clinically, these are distinct, but appear to arise from mutations in the same gene.
Types include:
A desmoplastic trichoepithelioma is a cutaneous condition characterized by a solitary, firm skin lesion on the face.
In Ollier disease isolated enchondromas are present without the presence of hemangiomas.
Generalized trichoepitheliomas are characterized histologically by replacement of the hair follicles by trichoepithelioma-like epithelial proliferations associated with hyperplastic sebaceous glands.
In medicine, desmoplasia is the growth of fibrous or connective tissue. It is also called desmoplastic reaction to emphasize that it is secondary to an insult. Desmoplasia may occur around a neoplasm, causing dense fibrosis around the tumor, or scar tissue (adhesions) within the abdomen after abdominal surgery.
Desmoplasia is usually only associated with malignant neoplasms, which can evoke a fibrosis response by invading healthy tissue. Invasive ductal carcinomas of the breast often have a scirrhous, stellate appearance caused by desmoplastic formations.
Hemihyperplasia–multiple lipomatosis syndrome is a cutaneous condition characterized by multiple lipomas in association with asymmetric (but non-progressive and non-distorting) overgrowth, cutaneous capillary malformations, and thickened plantar skin with prominent creases.
Mutations in the human homologue of Drosophila patched(PTCH1), a tumor suppressor gene on chromosome 9, were identified as the underlying genetic event in this syndrome.
Syringomas are harmless eccrine sweat duct tumors, typically found clustered on eyelids, although they may also be found in the armpits, abdomen, chest, neck, scalp or groin area including genitals in a symmetric pattern. They are skin-colored or yellowish firm, rounded bumps, 1–3 mm in diameter, and may be confused with xanthoma, milia, hidrocystoma, trichoepithelioma, and xanthelasma. They are more common in women and are most commonly found in middle-aged Asian women. While they can present at any time in life, they typically present during adolescence. They are usually not associated with any other symptoms although can sometimes cause itchiness or irritation.
Patients are normal at birth and the syndrome manifests during childhood and puberty. The enchondromas affect the extremities and their distribution is asymmetrical. The most common sites of enchondromas are the metacarpal bones and phalanges of the hands. The feet are less commonly afflicted.
Disfigurations of the extremities are a result. Pathological fractures can arise in affected metaphyses and diaphyses of the long bones and are common (26%).
The risk for sarcomatous degeneration of enchondromas, hemangiomas, or lymphangiomas is 15-30% in the setting of Maffucci syndrome. Maffucci syndrome is associated with a higher risk of CNS, pancreatic, and ovarian malignancies. Multiple enchondromas may present in 3 disorders: Ollier disease, Maffucci syndrome, and metachondromatosis. It is important to make the distinction between these diseases, particularly Ollier disease and Maffucci syndrome. Ollier disease is more common than Maffucci syndrome, and presents with multiple enchondromas often in a unilateral distribution. However, hemangiomas and lymphangiomas are not seen in Ollier disease. Metachondromatosis demonstrates autosomal-dominant transmission and presents with both multiple osteochondromas and enchondromas.
Trichoepitheliomas consisted of nests of basaloid cells. They lack the myxoid stroma and artefactual clefting seen in basal cell carcinoma. Mitoses are uncommon when compared to basal cell carcinoma.