Printable myofibroma myofibromatosis surgical pathology. Infantile myofibromatosis nord national organization for. 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. Infantile myofibromatosis im presents at birth or develops shortly.
In 1965, kauffman and stout2 divided the condition into 2 categories. Generalized infantile myofibromatosis with a monophasic. Infantile hemangiopericytoma versus infantile myofibromatosis. Pdf infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. Infantile myofibromatosis is a variant that is distinctive because of its multicentric origin, appearance at birth, and cellular composition, which is predominantly myofibroblasts. Every posterior fossa mass is not a tumor rare case. Congenital multiple fibromatosis infantile myofibromatosis. Neoplasm of uncertain behavior of connective tissue of eyelid. In three series, approximately in three series, approximately clinical presentation, diagnosis, and staging evaluation of neuroblastoma view in chinese. This article is within the scope of wikiproject medicine, which recommends that medicinerelated articles follow the manual of style for medicinerelated articles and that biomedical information in any article use highquality medical sources. Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera.
Infantile myofibromatosis is a proliferative disorder of infancy and early childhood characterized by nodular or diffuse growth of lesions that are comprised of a. Infantile myofibromatosis is a rare fibrous tumor of infancy that can be solitary or multiple. Classically, this disease presents solitary or multicentric nodular masses arising at the first months of life and involving the skin, subcutaneous tissues, bones or viscus. Similar lesions are occasionally diagnosed elsewhere on the hands, feet, arms or elsewhere on the body. It can involve the skin, muscle, bone, and viscera. Infantile myofibromatosis a clinical and pathological diagnostic challenge keywords. Three different types have been reported in the literature. Infantile myofibromatosis is the most common benign fibrous tumor in infants. This uncommon entity is subdivided into solitary and multicentric forms, with or without visceral involvement. Click on the link to view a sample search on this topic. Infantile myofibromatosis is a rare condition which usually presents in childhood. Infantile myofibromatosis is the most common fibrous disorder of infancy and early childhood.
This is a type of fibromatosis that typically affects children less than five years of age. A case of solitary myofibroma occurring in the pinna of a 50yearold woman is presented. 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. The diagnosis of infantile myofibromatosis imf may arise in patients with congenital 50% lesions or acquired lesions during the first 2 years of life 40%. 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. Solitary adult myofibroma of the pinna the journal of. Infantile myofibromatosis nord national organization. Imaging findings in seven cases of congenital infantile myofibromatosis with cerebral, spinal, or head and neck involvement springer for research. Bland fibroproliferative process that invades skeletal muscle, occurring age 8 and under, with two types. Infantile myofibromatosis 60% present at birth or shortly after, 80% within first two years predilection for head and neck unilesional or multicentric forms multicentric can have visceral involvement and has high mortality 75% workup in most of literature includes skeletal survey, chest x. It is a rare soft tissue tumor that can contain two different clinical entities, the adult. Abstractinfantile myofibromatosis is a rare fibrous tumor of infancy.
A benign fibrous tumor that usually occurs in children or infants. Intracranial involvement i\ s rare and when it occurs, it is generally extension of extracranial lesion into the. A female newborn had a rare case of congenital multiple fibromatosis, consisting of multiple fibrous lesions that histologically resemble myofibromas. Infantile myofibromatosis is a very rare benign tumordisease. Benign solitary myofibroma or multicentric myofibromatosis neoplasms composed of myoid cells with thinwalled blood vessels.
The efficacy of larotrectinib loxo101, a selective. Only anecdotal cases of lesions beginning during adulthood have been reported. To describe the imaging characteristics of extracranial myofibromatosis. In this paper we discuss a case of infantile myofibroma in a 2. A case with skull and rib involvement hee jin yang, byung kyu cho, seung chul hong and je g.
Infantile myofibromatosis usually involves the head and neck region but also may appear on the trunk, skin, muscle, subcutaneous tissue, bone, and viscera. Subcutaneous or soft tissue nodules commonly involve the skin of the head, neck, and trunk. This uncommon entity is subdivided into solitary and multicentric forms. The most common sites of involvement are the shoulder irdle and muscles and fascia of. Introduction congenital infantile myofibromatosis im is a rare mesenchymal disease, presenting with tumors in the skin, muscle, viscera, bone, and subcutaneous tissue. Characterized by the presence of one nodule in the skin, muscle, bone or subcutaneous tissue. These tumors have been divided into the following categories on the basis of their biologic. Although most of the cases are limited to the skin, in some.
In multicentric infantile myofibromatosis, the number of lesions ranged from 2 to 30. Biopsy specimen revealed infantile myofibromatosis im. Occurrence within families across multiple generations is suggestive of an autosomaldominant. The tumor is not cancerous but the location and size of the tumor can cause problems and even death in some cases if certain organs are involved. Myelopathy in infantile myofibromatosis springerlink. It is most commonly a solitary lesion arising in the first 2 years of life, when it is also called solitary infantile myofibroma. 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.
Six patients presented with solitary congenital infantile myofibromatosis. Rendering a final diagnosis of infantile myofibroma can be challenging in the light of nonspecific clinical, radiological findings and its histopathological similarities with a number of neoplasms especially spindle cell tumours. Lactic acidosis congenital infantile genetic and rare. Bony and softtissue lesions usually undergo spontaneous resolution, but excision may be required if vital. It was described as congenital generalized fibromatosis, multiple mesenchymal hamartomas and multiple vascular leiomyomas of newborn till chung and enzinger coined the term infantile myofibromatosis 2. The documents contained in this web site are presented for information purposes only. Infantile myofibromatosis genetic and rare diseases information. We present a neonatalonset case of generalized im with visceral central nervous system, heart, lungs, liver, spleen, small intestine, kidneys and bones and placental involvement, showing a monophasic histological pattern through the lesions during the course. Infantile myofibromatosis is a rare disorder characterized by the growth of one or more benign noncancerous tumors. Stromal tumors of uncertain behavior of digestive system. Definition of infantile myofibromatosis nci dictionary.
Less commonly, infantile myofibromatosis presents as multiple lesions of skin, muscle. Please visit the project page for details or ask questions at wikipedia talk. Infantile fibrosarcoma accounts for approximately % of pediatric fibroblastic and myofibroblastic tumors and 12% of softtissue malignancies 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. First drug targets in childhood genetic tumor disorder. Infantile myofibromatosis 2% inflammatory myofibroblastic kidney tumor 2% 8 hyman, lba2501. Infantile myofibromatosis im is a rare disorder present at birth or in early infancy with a biphasic histological pattern. Infantile myofibromatosis is a rare disorder characterized by the growth of one. Jun 01, 2019 infantile myofibromatosis im presents at birth or develops shortly thereafter, with 90% of cases occurring before the age of 2 years. Observations suggest that low dose chemotherapy is beneficial. Pubmed is a searchable database of medical literature and lists journal articles that discuss lactic acidosis congenital infantile. Infantile fibromatosis and myofibromatosis springerlink. 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.
We would like to show you a description here but the site wont allow us. A case of infantile myofibromatosis, solitary type, is reported, and the two surgical procedures carried out over a 4year period are described. Infantile myofibromatosis treated by mandibulectomy and staged reconstruction with submental flap and free fibula flap. Infantile myofibromatosis genetic and rare diseases. The majority of these tumors have benign behavior but resistant and malignant courses are known, namely in tumors with visceral involvement. Chi 2 departments ofneurosurgery and pathology 2, seoul national university college ofmedicine. 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 digital fibroma or fibromatosis presents as single or multiple gelatinous or firm pinkish nodules on the fingers or toes of an infant. 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. Infantile myofibromatosis is characterized by benign myofibroblastic tumors within skin, muscle, bone or viscera which have a characteristic staining pattern on immunohistochemistry.
One third are multifocal without visceral involvement with the remainder presenting as multifocal disease with solid organ involvement. 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. Imaging findings in seven cases of congenital infantile. This article is from case reports in dermatology, volume 3. It is often present at birth, and 90% of cases appear within the first two years of life. Other similarly presenting fibromatous diseases of infancy and childhood are discussed, including aplasia cutis, infantile fibrosarcoma, recurring infantile digital fibromatosis, and juvenile aponeurotic fibromatosis. Solitary myofibroma is a recently described benign neoplasm of the skin or superficial soft tissue and it represents the adult counterpart of infantile myofibromatosis. Infantile myofibroma of the carotid space presenting as. Infantile myofibroma is a rare and benign tumour of children presenting in the head and neck region. Nine patients presented with multicentric congenital infantile myofibromatosis. Five solitary, benign, softtissue tumors histologically resembling infantile myofibromatosis but which occurred in adults were found among more than 5,000 benign softtissue tumors from a tumor registry. Myofibroma as a cause of horner syndrome has been reported once previously, in a neonate with a left apical lung lesion and atrophy of the muscles of the ipsilateral arm 8. The definitive histological result 6 days later was infantile myofibromatosis. Infantile myofibromatosis is a distinct clinical disorder characterized by solitary, multicentric, or generalized neoplasms of myofibroblastic origin.
Sep 28, 2006 a 3weeksold male infant was admitted to our department for multiple fractures. Myofibroma tosis is in a morphologic continuum with myopericytoma and infantile hemangiopericytoma clin orthop relat res 2010. Infantile myofibromatosis is, while rare, the most common fibrous tumor in infancy and can occur in the skin, muscle, bone or viscera. Pediatric myofibromatosis of the head and neck pediatric cancer. A newborn with multiple fractures as first presentation of. Patients are usually brought to a physicians attention because of the discovery of a large mass.
Infantile myofibromatosis im is a rare benign tumor disease. Infantile myofibromatosis im presents at birth or develops shortly thereafter, with 90% of. Infantile fibromatosis surgical pathology criteria. Disease limited to the soft tissues, muscle, and bone has a good prognosis, and excision is curative. Infantile myofibromatosis im was first described by stout in his article on juvenile fibromatosis in 19541. Riskadapted therapy for infantile myofibromatosis in children. Pdf infantile myofibromatosis imf is a rare tumour with a wide spectrum of disease activity ranging from a solitary cutaneous nodule through to a. The differentiation of infantile myofibromatosis from juvenile fibromatosis is, on the contrary, not an academic question. Foxit software is the reliable source for fast, affordable, and secure pdf solutions.
Reye first described infantile digital fibromatosis in 1965 as a recurring digital fibrous tumor. 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. The skin, bone, muscle, soft tissue, and, in rare cases, the internal organs viscera can be affected. At 20 months followup, the boy showed beginning of regression of all lesions. Infantile myofibromatosis im, a rare benign neoplasm with an incidence of 1 in 400,000 1, can occur at any organ, partic ularly the skin or subcutaneous tissues or muscles 2,3. Infantile myofibromatosis, previously known as congenital generalized fibromatosis, is the most prevalent fibrous tumor of infancy. Diagnosis of infantile myofibromatosis with pseudo. Mar 01, 2020 pubmed is a searchable database of medical literature and lists journal articles that discuss lactic acidosis congenital infantile. Mutations in pdgfrb cause autosomaldominant infantile. 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. The condition typically presents in infancy and the tumors often disappear by the third year of life.
Infantile myofibromatosis belongs to a family of soft tissue tumors. Infantile myofibromatosis treated by mandibulectomy and. It can present in three forms solitary lesion, multicentric with visceral involvement and multicenteric without visceral involvement. The tumors are usually benign not cancer and do not spread to other parts of the. Infantile myofibromatosis of the head and neck is reported as rare, but as pathologists become more familiar with its histological features, this disorder may be increasingly seen by otolaryngologisthead and neck surgeons. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Introduction1 infantile myofibromatosis is a mesenchymal neoplasm of infancy and early childhood. The tumors or lesions that characterize infantile myofibromatosis are usually. Our propositus is a male newborn of unrelated parents born in italy at 40 weeks gestation with a birth weight of 3. In contrast to the infiltrative behaviour of juvenile fibromatosis, infantile myofibromatosis manifests itself as wellcircumscribed nodules that can be managed in a more conservative way. The tumors clinically presented as superficial, painless, and slowly enlarging nodules, usually of more than 10 years duration, that. Also called congenital fibromatosis, solitary infantile myofibromatosis rare. Infantile myofibromatosis, a rare childhood disease, was first described by stout in 1954, as congenital generalized fibromatosis 1. Nodular or multinodular proliferation with zonal appearance peripheral zones have myoid short fascicles whorls nodules of plump myofibroblasts with pale pink cytoplasm and long, tapering nuclei with vesicular chromatin and 1 2 small nucleoli, but no atypia or pleomorphism, often associated with hyalinization, whorls nodules can have a vaguely.
Neoplasm of uncertain behavior of connective tissue of ear. Infantile hemangiopericytoma infantile hemangiopericytoma is now categorized as a form of infantile myofibromatosis. Pdf riskadapted therapy for infantile myofibromatosis. This new clinicopathological entity is being recognized increasingly. Infantile myofibromatosis, formerly known as congenital fibromatosis, is the most common fibrous tumor of infancy. Pediatric myofibromatosis of the head and neck pediatric. About 50% of the lesions are present at birth or shortly after and these enlarge during the first few months of. Infantile myofibromatosis im is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera.
Infantile myofibromatosis symptoms, diagnosis, treatments. We present a case of multiple infantile myofibromatosis of soft tissues without involvment of visceral organs diagnosed at the neonatal age. As therapy, we determined a waitandsee policy with controls all 3 months. Study of a series suggesting a continuous spectrum of infantile myofibroblastic lesions. Pdf infantile myofibromatosis jean chateil academia. Infantile myofibroma eroding into the frontal bone. Korea abstract a case of infantile myofibromatosis with skull and rib involvement was reported. Apr 11, 2019 infantile digital fibromatosis is a benign asymptomatic nodular proliferation of fibrous tissue occurring almost exclusively on the dorsal and lateral aspects of the fingers or the toes, as is shown in the image below. Immunoperoxidase studies were negative for desmin and positive for actin. Infantile myofibromatosis lurie childrens hospital.
Infantile myofibromatosis im presents at birth or develops shortly thereafter, with 90% of cases occurring before the age of 2 years. The severity and specific symptoms present varies greatly from one person to another based, in part. It most frequently arises from soft tissues of the extremities, trunk, or head and neck regions and rarely from the retroperitoneum. Infantile myofibromatosis is the most common fibrous tumor of infancy. Infantile myofibromatosis nord national organization for rare. Jun 06, 20 infantile myofibromatosis im is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Clinical activity of larotrectinib in patients with trk fusion cancers includes unconfirmed responses with confirmatory scans pending 4 pr, 1 cr. During the second episode, 1 patient presented with a single thyroid nodule. Infantile myofibromatosis imf is a congenital disease characterized by. Infantile myofibromatosis is a rare benign mesenchymal tumor of infancy and early childhood. Occurrence within families across multiple generations is suggestive of an autosomaldominant ad inheritance pattern, but autosomalrecessive ar modes of inheritance have also been proposed. Comment infantile myofibromatosis was first described in 1954 by stout,1 who termed the condition congenital generalized fibromatosis.
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