Observations suggest that low dose chemotherapy is beneficial. Multicentric infantile myofibromatosis sciencedirect. Infantile myofibromatosis im is a distinctive mesenchymal disorder with. Mutations in pdgfrb cause autosomaldominant infantile. Infantile myofibromatosis lurie childrens hospital. Infantile myofibromatosis genetic and rare diseases. Infantile myofibromatosis a clinical and pathological. Cutaneous lesions present as purple macules and resemble a vascular neoplasm. Pdf infantile myofibromatosis presents as a firm, nodular mass in soft tissues, muscles, or visceras which can be. We present the data from the 12 cases seen in our institute over the last 14 years and highlight three cases, the first a typical case, then a retroperitoneal myofibroma that presented with duodenal obstruction and finally. Infantile myofibromatosis treated by mandibulectomy and staged.
Infantile myofibromatosis is a rare mesenchymal disorder of infancy and childhood characterized by the formation of tumors in the soft tissues, muscle, bone, and viscera. Renovascular disease accounts for the vast majority of cases of infantile hypertension with complications resulting from umbilical arterial catheterization predominating in the neonatal period and fibrodysplastic lesions of the renal artery predominating outside the neonatal period. Myofibromas and myofibromatosis of the oral region. Sep 28, 2006 infantile myofibromatosis is a rare mesenchymal disorder characterized by the development of firm, discrete, fleshcolored to purple nodules in skin, muscle, bone, andor subcutaneous tissues. Infantile myofibromatosis is the most common fibrous tumor of infancy, in which eighty percent of patients have solitary lesions with half of these occurring on the head and neck, and 60% are present at or soon after birth 606 less commonly, infantile myofibromatosis presents as multiple lesions of skin, muscle, and bone with about of these cases also having lesions in their visceral organs. First described as congenital fibrosarcoma in 1951 by williams and schrum, stout later used the term congenital generalized fibromatosis. Infantile myofibromatosis im presents at birth or develops shortly thereafter, with 90% of cases occurring before the age of 2 years. Bland fibroproliferative process that invades skeletal muscle, occurring age 8 and under, with two types. Infantile myofibromatosis im presents at birth or develops shortly thereafter. Infantile myofibromatosis is a rare disorder characterized by the growth of one or. Study of a series suggesting a continuous spectrum of infantile myofibroblastic lesions. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. Unclear, rare familial cases have autosomal dominant inheritance. Infantile myofibromatosis nord national organization for.
Infantile myofibromatosis nord national organization. Infantile myofibromatosis, congenital mesenchymal tumours introduction infantile myoflbr01natosis imf is an uncommon, usually cutaneous, condition in which there is a benign proliferation of myofibroblasts. Infantile myofibromatosis and socalled infantile hemangiopericytoma almost certainly represent different stages of maturation of the same single entity. The most commonly affected areas are the head, the neck and the trunk. Infantile myofibromatosis is considered the most common fibrous tumor of infancy and early childhood. Imaging of musculoskeletal fibromatosis radiographics. Infantile myofibromatosis journal of pediatric surgery. One third are multifocal without visceral involvement with the remainder presenting as multifocal disease with solid organ involvement. Infantile myofibromatosis is a rare mesenchymal disorder characterized by the development of nodules in the. Visceral lesions are associated with significant morbidity and mortality generally within the.
This article is from case reports in dermatology, volume 3. About 50% of the lesions are present at birth or shortly after and these enlarge during the first few months of. Immunoperoxidase studies were negative for desmin and positive for actin. Infantile myofibromatosis is a distinct clinical disorder characterized by solitary, multicentric, or generalized neoplasms of myofibroblastic origin. Infantile fibromatosis surgical pathology criteria. Multicentric infantile myofibromatosis in the cranium. It has a wide spectrum of disease activity, ranging from a solitary cutaneous nodule, through to a multicentric form with widespread visceral involvement. Characterized by the presence of one nodule in the skin, muscle, bone or subcutaneous tissue. Infantile myofibromatosis im is a rare benign tumor disease. Article information, pdf download for morphologic overlap between. Infantile myofibromatosis represents the most common fibrous tumor of infancy. Our patient showed a very high level of mandibular destruction resistant to all mandibular sparing treatment strategies requiring segmental mandibulectomy and complex reconstruction. We present a case ofmulticentric infantile myofibromatosis with regressionover time.
Harilalinfantile visceral myofibromatosisa rare cause of neonatal intestinal obstruction. Infantile myofibromatosis is a distinct clinical disorder characterized by solitary, multicentric, or generalized neoplasms of. Solitary infantile myofibromatosis of the mandible. Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions myofibromatosis in the skin, soft tissue, bone, or internal organs. First described by williams and schrum 1 and stout, 2 im was further subcategorized by others into solitary, multiple, or generalized forms and shown to affect the skin, muscle, bone, and viscera.
Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. Infantile hemangiopericytoma versus infantile myofibromatosis. Infantile myofibromatosis is an unusual mesenchymal disorder characterized by the. Infantile myofibromatosis im is a rare disease but the most common fibrous tumor of infancy, characterized by multiple myofibromatous tumors 5, 7, 22. During the second episode, 1 patient presented with a single thyroid nodule. Infantile myofibromatosis treated by mandibulectomy and. Occurrence within families across multiple generations is suggestive of an autosomaldominant ad inheritance pattern, but autosomalrecessive ar modes of inheritance have also been proposed. Infantile myofibromatosis belongs to a family of soft tissue tumors. Infantile myofibromatosis is the most common form of fibromatosis in children. Biopsy specimen revealed infantile myofibromatosis im.
Infantile myofibromatosis, formerly known as congenital fibromatosis, is the most common fibrous tumor of infancy. View enhanced pdf access article on wiley online library html view download pdf for offline viewing. Infantile myofibromatosis with intracranial extradural. In three series, approximately in three series, approximately clinical presentation, diagnosis, and staging evaluation of neuroblastoma view in chinese. Solitary and multicentric nodular forms with, and without, visceral involvement have been described. Solitary infantile myofibromatosis in the bones of the upper. Nih does not independently verify information submitted to the gtr. Pdgfrb mutants found in patients with familial infantile. Infantile myofibromatosis is marked by the development of firm, discrete, fleshcolored to purple nodules in skin, muscle, bone, andor subcutaneous tissues. Pediatric myofibromatosis of the head and neck pediatric cancer. Infantile myofibromatosis is a rare mesenchymal disorder characterized by the development of firm, discrete, fleshcolored to purple nodules in. Infantile myofibromatosis and the classic form of mesoblastic nephroma have been suggested to be the same disease because of their very similar histology. Although vertebra plana is uncommon in in fantile myofibromatosis, it should be consid. Also called congenital fibromatosis, solitary infantile myofibromatosis rare.
Pdgfrb mutants found in patients with familial infantile myofibromatosis or overgrowth syndrome are oncogenic and sensitive to imatinib. It is characterized by the formation of tumors, either in a solitary or in a multicentric fashion, in the skin, muscle, viscera, bone, and subcutaneous tissue. C r o g infantile myofibromatosis 2 clinical features help list of clinical features of the conditionphenotype displayed from sources such as the human phenotype ontology hpo and omim. In more than half of the cases, the tumor manifests as a painless single swelling or mass. Pediatric myofibromatosis of the head and neck pediatric. A male infant had three nodules on the left cheek, right forearm, and right neck.
Dec 12, 2007 despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. In multicentric infantile myofibromatosis, the number of lesions ranged from 2 to 30. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. Infantile myofibromatosis is a rare condition which usually presents in childhood. First described as congenital fibrosarcoma in 1951 by williams and schrum 2, stout 3 later used the term congenital generalized fibromatosis. Infantile myofibromatosis is the most common benign fibrous tumor in infants. Infantile myofibromatosis is a rare mesenchymal disorder characterized by the onset of nodules in the skin, striated muscles, bones, and, more rarely, visceral organs. It can be solitary, mainly affecting the bone or soft tissues, or multicentric with the possibility of visceral. Disease limited to the soft tissues, muscle, and bone has a good prognosis, and excision is curative. A newborn with multiple fractures as first presentation of. Im is characterized by solitary or multiple nodules that are firm, fleshcolored to purple myofibroma, and usually painless except in case of compression of adjacent nerves.
Less common causes of vertebra plana are lymphoma, leukemia, and metastases. Despite being the most common fibrous tumour of infancy, infantile myofibromatosis is still sufficiently rare for the diagnosis not to be apparent to many clinicians. The skin, bone, muscle, soft tissue, and, in rare cases, the internal organs viscera can be affected. Harilalinfantile visceral myofibromatosis a rare cause of neonatal intestinal obstruction. Pdf infantile myofibromatosis imf is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule. Subcutaneous lesions present as painless freely mobile masses. Wed like to understand how you use our websites in order to improve them. Infantile myofibromatosis is a rare disorder characterized by the growth of one or more benign noncancerous tumors. Infantile myofibromatosis, previously known as congenital generalized fibromatosis, is the most prevalent fibrous tumor of infancy. First drug targets in childhood genetic tumor disorder date. Wholebody magnetic resonance imaging in the diagnosis and. Is a condition present at birth or occurring soon after, characterized by solitary or multiple firm, rubbery, spherical, or ovoid nodules in the skin and. Further evaluation revealed a solitary pulmonary nodule in the right middle lobe located far from mediastinal structures, which had no evidence of tumor enlargement on follow.
Infantile myofibromatosis imf is a benign localized solitary or generalized multicentric proliferation of fibroblastic tissue occurring exclusively in infants and. Pathology of infantile myofibromatosis and solitary. Our patient showed a very high level of mandibular destruction resistant to all mandibular sparing treatment strategies requiring segmental mandibulectomy and complex. Infantile myofibromatosis is, while rare, the most common fibrous tumor in infancy and can occur in the skin, muscle, bone or viscera. A case of congenital multiple myofibromatosis developing. A recurrent pdgfrb mutation causes familial infantile.
Rare causes include morquios disease, gauchers disease, hypophosphatasia, and radiotherapy. A 3weekold, female infant, developed severe bilateral shoulder pain in association with large, symmetrical, lytic lesions in the proximal humeri. Myofibromas present as firm nodules of spindleshaped cells involving the dermis, subcutaneous. The treatment of resistant or relapsed patients with multifocal disease. By using wholeexome sequencing, rna sequencing, and targeted sequencing, we investigated germline and tumor dna in individuals from four distinct families with the familial form of im and in five simplex im cases with no previous family history of this disease. The tumors or lesions that characterize infantile myofibromatosis are usually.
Mar 14, 2019 infantile myofibromatosis is the most common benign fibrous tumor in infants. While most cases occur in infants less than two years of age, they. Abstractinfantile myofibromatosis is a rare fibrous tumor of infancy. Patients and consumers with specific questions about a genetic test should contact a health care provider or a. Nih makes no endorsements of tests or laboratories listed in the gtr. Nine patients presented with multicentric congenital infantile myofibromatosis. Infantile myofibromatosis imf is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to. Although most of the cases are limited to the skin, in some instances systemic involvement can be present. Printable myofibroma myofibromatosis surgical pathology. In contrast to moore and colleagues statement, involvement of im in the central nervous system has been reported. Infantile myofibromatosis im is the most common benign fibrous tumor of soft tissues affecting young children. However, studies on the distribution of celltype markers i. Solitary tumors limited to the skin usually present a good prognosis with. Infantile myofibromatosis im is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and.
The radiological appearance was suggestive of infantile myofibromatosis and bone biopsy confirmed the diagnosis. Infantile myofibromatosis nord national organization for rare. Six patients presented with solitary congenital infantile myofibromatosis. Infantile myofibromatosis im is a rare tumor of infancy and childhood, characterized by single or multiple firm, nontender nodular masses of the skin, soft tissue, bone or viscera. Spontaneous remission of solitarytype infantile myofibromatosis. Infantile myofibromatosis im is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Solitary infantile myofibromatosis in the bones of the. Myofibromatosis is the most common fibrous tumor of infancy or. Infantile myofibromatosis and the use of magnetic resonance. Abstractinfantile myofibromatosis im is the most common fibrous tumor of infancy. Morphologic overlap between infantile myofibromatosis and. Infantile myofibromatosis, fibrous tumours, mesenchymal disorder, spontaneous regression disease name synonyms infantile myofibromatosis im is the most common fibrous disorder of infancy and early childhood wiswell et al.
Jun 01, 2019 infantile myofibromatosis im presents at birth or develops shortly thereafter, with 90% of cases occurring before the age of 2 years. In cases without visceral involvement, the prognosis is excellent with expected spontaneous regression of nodules in 1 to 2 years. Myofibromatosis involves soft tissue and bone, more frequently occurs in deep soft tissues and may involve deep viscera. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. This disease typically presents as multiple mesenchymal tumors arising in skin, muscle, bone, subcutaneous tissue, and viscera. At histopathologic analysis, infantile myofibromatosis is characterized by spindle cells with histologic features of both smooth muscle and fibroblasts, 16. Infantile myofibromatosis was first described by stout in 1954 as congenital generalized fibromatosis and was renamed as infantile myofibromatosis by chung and enzinger in 1981 after recognition of the myofibroblastic nature of the lesion. We report a previously undescribed cause of renovascular hypertension. Skip to main content open access publications from the university of california. Infantile myofibroma is a rare benign mesenchymal tumor that presents as solitary or multiple lesions myofibromatosis in the skin, soft tissue, bone. Infantile myofibromatosis im mim 228550 is one of the most common proliferative fibrous tumors of infancy and childhood. Infantile myofibromatosis is a rare fibrous tumor of infancy that can be solitary or multiple. Three different types have been reported in the literature. Infantile myofibromatosis is a solitary or multicentric proliferation of fibrous tissues and represents a distinct subtype of the fibromatoses, 1.
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