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At least 19 recordsLinked to original sources
PubMedDate not supplied

Congenital generalized myofibromatosis: a disseminated angiocentric myofibromatosis.

Infantile myofibromatosis occurs in solitary, multiple, and generalized forms, with similar histology but different clinicopathologic and prognostic implications. We report the findings in two male infants with fatal congenital generalized myofibromatosis (CGMF) who presented with multiple dermal and subcutaneous nodules at birth. Imaging studies revealed bony and visceral lesions, which progressed despite chemotherapy. One infant had severe hypercalcemia associated with extensive lytic bone lesions. Both infants died in respiratory failure and had a combination of pulmonary CGMF and diffuse alveolar damage. Involvement of skin, soft tissue, bone, heart, lungs, liver, gastrointestinal tract, and endocrine organs was confirmed at autopsy in each case. A consistent histologic pattern of interlacing fascicles of myofibroblasts with abundant eosinophilic cytoplasm was noted, with variable necrosis and calcifications in some sites. The myofibroblasts displayed vimentin and smooth muscle actin immunoreactivity. The lungs in each case had the presumably early lesions of CGMF with an angiocentric and perivascular growth of myofibroblasts. A similar vascular pattern was present in all affected organs. These two cases demonstrate the extraordinary presentation of CGMF, which suggests its multifocal origin from vascular subintimal mesenchymal or smooth muscle cells whose phenotype is that of myofibroblasts.

Adrenal Gland Neoplasms↗
PubMed1989

Myofibromatosis in adults (adult counterpart of infantile myofibromatosis).

Five solitary, benign, soft-tissue tumors histologically resembling infantile myofibromatosis but which occurred in adults were found among more than 5,000 benign soft-tissue tumors from a tumor registry. The tumors clinically presented as superficial, painless, and slowly enlarging nodules, usually of more than 10 years' duration, that occurred in the upper (two cases) and lower (two cases) extremities or the buccal mucosa (one case). They developed in the dermis and subcutis as well-circumscribed nodules with an average diameter of 1.2 cm. They were composed of discrete and confluent fibrous tissue with a mixture of bundles of smooth muscle-like cells and a hemangiopericytoma-like area of immature mesenchymal cells. Immunostaining for actin and intermediate filaments revealed the myofibroblastic nature of the tumor cells. The tumors were surgically excised, and there has been no recurrence. Clinicians and pathologists should note that the lesion of infantile myofibromatosis can and does occur in adults.

Actins↗
PubMed2004

Endocardial location of familial myofibromatosis revealed by cerebral embolization: cardiac counterpart of the frequent intravascular growth of the disease?

Myofibromatosis is a rare infantile benign neoplasia, which may involve the heart in the rare and usually fatal generalized form of the disease. Diagnosis of endocardial myofibromas was made on two surgically excised lesions of the mitral valve that were reveled by a cerebral embolization in a 12-month-old female infant. Surprisingly, the patient had no other obvious lesion of myofibromatosis. However, her father had a histologically proven neonatal history of myofibromatosis. This case confirms the likely autosomal dominant mode of inheritance of myofibromatosis. It highlights the embolization risk of the previously unreported endocardial location. We suggest that these clinically isolated non-invasive endocardial myofibromas did not represent a true visceral form of myofibromatosis. They were, rather, similar to the frequent intravascular growth of the disease.

Antigens, CD34↗
PubMed2005

[Unusual presentation of infantile myofibromatosis with an ulcered plaque].

INTRODUCTION: Infantile myofibromatosis is a rare fibrovascular-like, isolated or multicentric tumor, occasionally of the bone or an organ and appearing before the age of 2. We report a case of infantile myofibromatosis in a child in an atypical form with a single, ulcerated plaque and having developed after the onset of clusters of papular nodules. OBSERVATION: An infant was seen in consultation because of asymptomatic papules that had developed on the back. The histological examination of a partial biopsy revealed a histiocytofibromatus aspect and led to the diagnosis of clusters of multiple histiocytofibromatous. One year later, the papular nodules had converged, forming a large plaque with ulcerated center. The progressive extension and the absence of healing prompted surgical exeresis and the final diagnosis of myofibromatosis. DISCUSSION: Diagnosis of infantile myofibromatosis is difficult histologically and clinically and relies on a clear anatomoclinical confrontation. The clinical aspects are varied. To our knowledge, myofibromatosis with a single ulcerated plaque has never been reported in the literature before.

Humans↗
PubMed2002

[Infantile myofibromatosis of the tongue - a case-report].

PATIENT: We report a case of infantile myofibromatosis of the tongue in a 5 month old female child. The parents reported discovering the tumor in the musculature of the tongue and the tumor had largely grown in size in the space of 4 weeks. The child's health was not impaired at any time. After a specimen was removed for a histological examination, an infantile myofibromatosis was diagnosed. DISCUSSION: The occurrence of these tumors in neonates and young children in the oral cavity and in particular in the tongue is rarely reported. Development of the benign tumor disease depends on the form of the tumor, which can be distinguished between a solitaire, a multiloculaire and a generalized form. In contrast to the other two forms, cases of generalized infantile myofibromatosis involve the visceral organs and have a poor prognosis with a mortality rate of 75 %. Spontaneous remission is often reported in the solitaire and multiloculaire varieties of infantile myofibromatosis.

Biopsy↗
PubMedDate not supplied

Spinal canal involvement in infantile myofibromatosis: case report and review of the literature.

PURPOSE: An unusual case of infantile myofibromatosis with spinal canal involvement is reported and the literature is reviewed. PATIENT AND METHODS: A female neonate had bladder and bowel dysfunction and paresis of the lower extremities. RESULTS: Intrapelvic and paravertebral masses with extension into the spinal canal were detected by imaging studies. In addition, radiologic examination showed multiple metaphyseal radiolucent lesions of the long bones and pathologic fracture of the left femur. The histopathologic diagnosis of the paravertebral tumor and bone lesions was infantile myofibromatosis. Surgical resection of the paravertebral and intrapelvic masses was performed to improve her neurologic impairments. Paresis of the lower limbs gradually improved, whereas bladder and bowel dysfunction remained unchanged. CONCLUSIONS: Only six cases of infantile myofibromatosis associated with spinal canal involvement have been reported. Three patients with flaccid paresis of extremities and respiratory distress died in the newborn period. The other three patients showed improvement of the paresis. The prognosis of infantile myofibromatosis without visceral complication is generally good, but neurologic impairment may occur at birth if the spinal cord is compressed.

Bone Neoplasms↗
PubMed2001

Solitary infantile myofibromatosis in the lateral orbit floor showing spontaneous regression.

Infantile myofibromatosis is a rare benign tumour usually occurring early in infancy. We describe the case of a 10-year-old boy with solitary infantile myofibromatosis in the left lateral orbit floor which regressed spontaneously. Although our patient was older than previously reported cases and showed bony destruction confirmed by computed tomography (CT), this tumour was diagnosed as infantile myofibromatosis based on immunohistochemical findings. The tumour disappeared spontaneously six months after incisional biopsy, that also indicated this tumour was an infantile myofibromatosis.

Child↗
PubMed1999

A case of congenital multiple myofibromatosis developing in an infant.

BACKGROUND: Infantile myofibromatosis is marked by the development of firm, discrete, flesh-colored to purple nodules in skin, muscle, bone, and/or subcutaneous tissues. In cases without visceral involvement, the prognosis is excellent with expected spontaneous regression of nodules in 1 to 2 years. Visceral lesions are associated with significant morbidity and mortality generally within the first few months of life secondary to obstruction of a vital organ, failure to thrive, or infection. OBSERVATION: We present a case of congenital myofibromatosis initially presenting as a single, asymptomatic nodule on the midback of an otherwise healthy 1-month-old white boy. Over the subsequent 6 months, the child developed a left-sided head tilt with the formation of additional myofibromas of the skin and musculature, but without visceral involvement. Physical examinations have continued to show age-appropriate growth and development. CONCLUSION: Clinicians should be aware of this rare but potentially life-threatening entity and consider infantile myofibromatosis in the differential diagnosis of pediatric dermal and subcutaneous nodules, particularly when associated with a new onset of head tilt. Close clinical follow-up is recommended in all cases of infantile myofibromatosis.

Humans↗
PubMed1984

Localized infantile myofibromatosis. Report of a case originating in the mandible.

A case of congenital solitary myofibromatosis occurring in the mandible is presented. Recognition of this entity is of clinical importance as the lesion can be easily confused with juvenile fibromatosis. In contrast to this latter disease which exhibits a locally aggressive growth pattern requiring radical surgery, myofibromatosis consists of well-circumscribed nodules amenable to simple excision. Moreover, myofibromatosis may show spontaneous regression. Histological features permitting the differentiation of myofibromatosis from juvenile fibromatosis are discussed.

Diagnosis, Differential↗
PubMed1992

Recurrent adult myofibromatosis. A case report.

Myofibromatosis generally is regarded as a fibrous proliferative disease of neonates and children that, even when multicentric, has an excellent prognosis and a propensity for spontaneous involution. Reported is a case of solitary, locally recurrent myofibromatosis in the ear canal of an adult patient. It was initially thought to be a leiomyoma. The diagnosis of myofibromatosis was made on the basis of its histologic appearance and corroborated by immunohistochemical stains. Clinicians and pathologists should be aware that myofibromatosis may occur in adults in unusual locations, with a potential for local recurrence. Furthermore, its histologic appearance may mimic that of other mesenchymal neoplasms.

Adult↗
PubMed1996

Periorbital infantile myofibromatosis.

An 11-day-old boy was found to have a lesion of the left lower eyelid and medial canthus. The mass was present at birth and subsequently enlarged, and was subtotally excised when the child was 2 months old. Histopathologic examination disclosed a fascicular to slightly nodular pattern of predominantly spindle-shaped cells. Special stains demonstrated fibroblastic and smooth-muscle features in individual cells, and infantile myofibromatosis was diagnosed. Sixteen months postoperatively, no evidence of recurrence was noted. We believe this is the first case of infantile myofibromatosis of the solitary type involving the ocular adnexa of a neonate to be reported in the English literature. Infantile myofibromatosis of the solitary type appears to have an excellent prognosis and may be treated with conservative resection if the tumor infiltrates important adnexal structures.

Conjunctiva↗
PubMed2004

Solitary myofibromatosis of the skull: a case report and review of literature.

CASE REPORT: We present a case of solitary myofibromatosis of the skull in a 4-year-old girl. Surgery was performed and the final diagnosis of myofibromatosis was made histopathologically. DISCUSSION: Solitary myofibromatosis of the skull is rare and we found approximately 20 reported cases in the English-language literature. We reviewed eight well-described cases. CONCLUSION: Neuroradiologically, common features such as a lytic lesion with a sclerotic rim on roentgenogram and intra-diploic lesion with periosteal new bone formation both in the outer and inner table of the skull on computed assisted tomography are noticed.

Child, Preschool↗
PubMed2006

Multicentric infantile myofibromatosis: two perinatal cases.

Infantile myofibromatosis, the most common fibrous tumor of infancy, occurs in solitary, multiple, and generalized forms, with similar histology but different clinicopathologic and prognostic implications. This entity is a mesenchymal disorder characterized by the proliferation of fibrous tumors in the skin, muscles, viscera, bones, and subcutaneous tissues. Visceral lesions are associated with significant morbidity and mortality, generally within the first few months of life. They lead to failure to thrive, to infection, hemorrhage, or to the obstruction of vital organs. We describe two cases of multicentric myofibromatosis with significant in utero lesional growth, resulting in one fetal demise and one post-natal demise. To the best of our knowledge, this is the first report of a fetal death secondary to infantile myofibromatosis.

Fatal Outcome↗
PubMed1997

Infantile myofibromatosis of orbital bone. A case report with computed tomography, magnetic resonance imaging, and histologic findings.

OBJECTIVE: The authors report the clinical, radiographic, histologic, and surgical findings of a rare presentation of infantile myofibromatosis. A mass presenting at the inferolateral orbital rim of a 4-year-old child was imaged with both computed tomography (CT) and magnetic resonance imaging (MRI), excised surgically and analyzed histologically to confirm the diagnosis. Infantile myofibromatosis is a rare benign disorder of childhood consisting of well-demarcated nonencapsulated tumors. The overall prognosis depends on the number and location of tumors. Isolated infantile myofibromatosis of the head and neck is the most common form of this generally benign disease. DESIGN: A case review study is presented and discussed with regard to clinical, radiographic, histologic, and interventional findings. The literature is reviewed and the clinical relevance discussed. INTERVENTION: Surgical extirpation of the tumor was undertaken after sufficient localizing radiographic information was obtained. RESULTS: The tumor showed erosion of the orbital bone and orbital extension with reactive hyperostosis on CT imaging. The MRI finding showed an inhomogeneous well-demarcated dark mass on T1 images with increased signal intensity on T2 images. Gadolinium contrast showed significant vascular enhancement. Histologic sections showed a spindle-cell tumor of whorled myofibroblasts surrounding a hemangiopericytoma-like center. The tumor was excised completely. There has been no evidence of recurrence or adverse ocular sequelae in the first 6 months after surgery. CONCLUSIONS: Cases involving the orbit or cranial bones are particularly rare but can have profound secondary effects on local structures. Isolated tumors can occur in all age groups and can mimic more aggressive or malignant neoplasms. The CT and MRI findings are beneficial in establishing a differential diagnosis, plan of treatment, and prognosis. Early diagnosis is important to rule out other neoplasms. The appropriate treatment is excisional biopsy whenever possible and is considered curative. The authors present what to our knowledge is the first reported case of an isolated infantile myofibroma involving an orbital bone.

Child, Preschool↗
PubMed2004

[Solitary cutaneous infantile myofibromatosis].

Infantile myofibromatosis is the most frequent fibromatosis in childhood. It is a benign proliferation of fibroblasts and myofibroblasts. This case report concerns a newborn who presented at birth with a purple cutaneous nodule on the scalp. Surgical excision was performed at the age of 16 months. Infantile myofibromatosis was diagnosed on histology. Infantile Myofibromatosis (IMF) was first described by Enzinger in 1981. Three types can exist. Solitary MFI, the most frequent, is a solitary lesion, cutaneous/subcutaneous, osseous or involving soft tissues. Multicentric disease is characterized by multiple locations and generalized form by visceral involvement. Morphological features are identical in all types. The histological diagnosis relies on the identification of two separate components, a fascicular myofibroblastic pattern at the periphery with a hemangiopericytoma like pattern in the centre. Both components are positive for alpha-smooth muscle actin. Atypia, or mitotic activity, are not observed usually but features of intravascular growth can be seen in the centre of the lesion. Infantile MF carries a good prognosis when solitary but death frequently occurs in generalized MF with visceral involvement.

Humans↗
PubMed1998

Myofibromatosis in adults, glomangiopericytoma, and myopericytoma: a spectrum of tumors showing perivascular myoid differentiation.

The clinicopathologic features of 24 tumors showing perivascular myoid differentiation are described. These included tumors with histologic features of "infantile-type" myofibromatosis occurring in adult patients (8 cases), tumors with composite features of "hemangiopericytoma" and glomus tumor (9 cases), and tumors with a distinctive concentric perivascular proliferation of spindle cells (7 cases). Evidence of morphologic overlap among these groups suggests they are closely related neoplasms that form a single spectrum. Age of patients with lesions resembling infantile-type myofibromatosis ranged from 23 to 67 years (median, 37 years). Clinicopathologic manifestations of this disease included multicentricity (4 cases), local recurrence (3 cases), persistence of congenital lesions into adulthood (4 cases), and tumors that were multifocal within the confines of one anatomic region (7 cases). Histologically, all cases showed a biphasic pattern that consisted of fascicles of spindle cells with abundant eosinophilic cytoplasm that resembled smooth muscle, in addition to a population of more primitive spindled cells associated with a hemangiopericytomalike vascular pattern. Six cases showed reversal of the typical zonation seen in pediatric cases in that the primitive component surrounded the more mature fascicular areas. Also described are nine tumors with features that are intermediate between glomus tumor and hemangiopericytoma, which we have designated glomangiopericytoma. These tumors are characterized by prominent branching vessels lined by a single row of endothelial cells surrounded by epithelioid cells with a glomoid appearance. In other areas, the tumors showed typical hemangiopericytomatous foci similar to those in the myofibromatosis cases. The principal points of distinction were a lack of myoid nodules and an absence of small primitive cells with basophilic cytoplasm. Ages of these patients ranged from 17 to 78 years (median, 35 years). All tumors were located in the subcutaneous tissue and the superficial soft tissue of the extremities. Recurrence developed in one of six patients with follow-up information. The recurrent tumor had features of angiomatoid malignant fibrous histiocytoma. Finally, we describe a subset of tumors characterized by concentric periluminal proliferation of bland, round to ovoid cells, which we have designated as myopericytoma. Patient age ranged from 10 to 66 years (median, 40 years). All were located in subcutaneous and superficial soft tissue of distal extremities. One patient had two recurrences in 3 years after initial excision. Our study suggests that these three lesional groups comprise a histologic continuum of tumors that share clinical similarities and that, perhaps, are designated more appropriately as perivascular myomas. The relationship of this family of tumors to so-called hemangiopericytoma is discussed.

Actins↗
PubMed1995

Are infantile myofibromatosis, congenital fibrosarcoma and congenital haemangiopericytoma histogenetically related?

Infantile myofibromatosis, congenital fibrosarcoma and congenital/infantile haemangiopericytoma are generally considered distinct entities. Overlapping microscopic features between infantile myofibromatosis and congenital fibrosarcoma, and between infantile myofibromatosis and congenital/infantile haemangiopericytoma, however, have been noted, but not formally reported. This report concerns six neonatal tumours, each exhibiting more than one of the above patterns, supporting a histogenetic relationship among these entities. Immunohistochemistry for smooth muscle actin was found to be useful in the diagnosis of congenital/infantile haemangiopericytoma, and also served to support a histogenetic relationship with the other two entities under consideration.

Actins↗