User:Smguzman/Diffuse infantile fibromatosis

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Diffuse infantile fibromatosis is a rare condition affecting infants during the first 3 years of life. It is usually confined to the muscles of the arms, neck, and shoulder area. There is a multicentric infiltration of muscle fibers with fibroblasts resembling those seen in aponeurotic fibromas. The term "diffused infantile fibromatosis was initial coined by F.M. Enzinger

Classification
Diffuse infantile fibromatosis is a rare, non-hereditary, disorder of the skin, bone, muscle, soft tissue, and internal organs caused by mutations in the genes PDFRB and NOTCH3. It is characterized by benign tumor growth in the affected organ. Although the tumors do not spread, they may obstruct the functions of surrounding organs and impair their functions. Cases of diffuse infantile fibromatosis appear earlier in life however in rare cases it may onset in adulthood. There are treatments available which vary depending on the location of the tumor-- surgery being the main one.

Signs and Symptoms
"Macroscopically, the lesion in the medial vastus muscle with an illdefined border gave a pepper and salt appearance. Histologically, the lesion was characterized by an abnormal proliferation of fibroblasts accompanied by some fibrosis, infiltration of chronic inflammatory cells, formation of lymphoid follicles, proliferation of capillaries and the presence of a small number of mature fat cells."

"More than 90% of cases of juvenile myofibromatosis have onset in infancy, although the disorder can first present later in childhood or less often in adults. The tumors can continue to develop throughout an individual’s life.

The specific symptoms of infantile myofibromatosis are broad, and the severity can vary. Some infants have mild disease that resolves on its own without treatment (spontaneous regression). Others develop extensive disease that involves internal organs and can cause life-threatening complications if left untreated. Therefore, it is important to note that affected individuals may not have all of the symptoms discussed below and that every individual case is unique. Parents should talk to their child’s physician and medical team about their specific case, associated symptoms and overall prognosis.

The tumors or lesions that characterize infantile myofibromatosis are usually seen as firm, flesh or purple covered bumps (nodules) on the skin or just underneath the top layer of the skin (subcutaneous layer). These superficial lesions may be freely movable; deeper lesions are generally immobile. Skin lesions may be crusted or hardened (indurated). The lesions are usually not painful or tender. The overlying skin may be discolored red or purple and ulcerated. Lesions are also commonly found in muscle, soft tissue and bone, and very rarely the internal organs.

Although the tumors that characterize infantile myofibromatosis do not spread (metastasize), they can grow large enough to damage or compress nearby structures in the body. Pain, which occurs when tumors press against adjacent nerves, can develop. In some cases, tumor growth can also cause bone destruction, disfigurement, and even physical limitations.

Infantile myofibromatosis is sometimes broken down into separate types, specifically solitary, multicentric, and multicentric with visceral involvement.

The solitary form is most common, accounting for approximately 75% of cases of infantile myofibromatosis. This form occurs predominantly in males and is characterized by one nodule or lesion that most commonly occurs in the skin, often extending into subcutaneous tissue and/or muscle tissue. The nodule is usually found in the head, neck or trunk areas. A solitary nodule of the bone can also occur, but is extremely rare.

The multicentric forms are more common in females. The multicentric form without visceral involvement is characterized by multiple nodules that can arise in different areas of the skin, subcutaneous tissue or muscle. The multicentric form with visceral involvement is the most severe form of the disorder and is characterized by multiple growths of the skin, muscles, and bones along with the involvement of the internal organs such as the lungs, heart, and gastrointestinal tract. In some cases, only one organ may be involved; in other cases visceral involvement is widespread. This form of infantile myofibromatosis can cause severe, life-threatening complications depending upon the exact location of the lesion and the specific organs involved."

Causes
For the majority of cases, the disorder manifests spontaneously without a known cause. Mutations in the PDGFRB and NOTCH3 genes have been identified as causative in cases where multiple family members present with the disorder. A mutation on one copy of the PDGFRB gene is sufficient for the disorder to develop; it can be inherited by one parent or happen "de novo in the affected person". On the other hand, an affected individual must have inherited a mutated NOTCH3 gene from each parent for diffuse infantile fibromatosis to develop.

Mechanism
Although the exact mechanism of diffuse infantile myofibromatosis is not known, mutations in autosomal inherited genes, PDGFRB and NOTCH3, are suspected to play a big role in the formation of the disorder.

Myofibromatosis refers to the formation and growth of rare tumors in various parts of the body, including the skin and bones. Tumors form through abnormal and excessive cell growth and division, which can lead to a variety of disorders and diseases, like myofibromatosis and cancer.

Diagnosis
"A diagnosis of infantile myofibromatosis is based on the microscopic examination of the tissue in a patient with characteristic symptoms and physical examination. Imaging studies including ultrasound and MRI are most often used to visualize the extent of the growths. Imaging techniques may be used to assess the extent of the growths, the progression of the growths, and to diagnose recurrence of a growth. Imaging may be used to help evaluate the size, placement, and extension of lesions and to aid surgical procedures."

Diagnosis of diffuse infantile myofibromatosis requires microscopic tissue examination as well as a physical examination of the individual.

Diagnosis of diffuse infantile myofibromatosis requires microscopic tissue examination as well as a physical examination of the individual. Tumor growth is monitored using imaging software like ultrasound and MRI to visualize the tumor progression, regression, and can be useful in diagnosing recurrence of a tumor. The imaging software allows surgeons to pinpoint the location of the tumors and the extent of the lesions to properly evaluate the size. In order to diagnose infantile myofibromatosis, a tissue sample must be removed from the tumor and be identified as infantile myofibromatosis as opposed to other growths that may look similar in the images produced by the imaging softwares.

Genetic testing can identify the likelihood of someone getting the disease.