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European Journal of Pediatric Surgery :... Jun 1993An infant with an unusual presentation of Infantile Myofibromatosis (IM) is presented. Massive involvement of the pelvic region complicated the delivery and precluded... (Review)
Review
An infant with an unusual presentation of Infantile Myofibromatosis (IM) is presented. Massive involvement of the pelvic region complicated the delivery and precluded meaningful therapy. The literature is reviewed.
Topics: Biopsy; Connective Tissue; Humans; Infant, Newborn; Leiomyoma; Male; Microscopy, Electron; Neoplasms, Multiple Primary; Pelvic Neoplasms; Skin
PubMed: 8353122
DOI: 10.1055/s-2008-1063539 -
Journal of Pediatric Hematology/oncology 1998An unusual case of infantile myofibromatosis with spinal canal involvement is reported and the literature is reviewed. (Review)
Review
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.
Topics: Bone Neoplasms; Calcinosis; Encopresis; Female; Femoral Neoplasms; Fractures, Spontaneous; Humans; Hydronephrosis; Infant, Newborn; Myofibromatosis; Paraplegia; Pelvic Neoplasms; Spinal Canal; Spinal Cord Compression; Spinal Neoplasms; Urinary Bladder, Neurogenic
PubMed: 9703012
DOI: 10.1097/00043426-199807000-00015 -
Child's Nervous System : ChNS :... Apr 2022Infantile myofibromatosis is a rare and nonmalignant pediatric tumor of myofibroblastic origin that may occur in solitary or multifocal forms. Soft tissue of the head...
Infantile myofibromatosis is a rare and nonmalignant pediatric tumor of myofibroblastic origin that may occur in solitary or multifocal forms. Soft tissue of the head and neck, trunk, and extremities, skeleton, and viscera are usually involved. Intracranial involvement is reported to be extremely rare, and its clinical picture has been poorly characterized. We present two cases of giant infantile myofibromatosis of the skull base with intracranial involvement. The first case with prenatal diagnosis involved extensively the extradural space of the occipital region and was previously treated by chemotherapy for a previous diagnosis of hemangioperycitoma. Tumor was removed at the age of 5 months and no recurrence was observed during the 3-year follow-up. The second case in a 2-year-old baby involved the anterior cranial base, the nasal cavity, the right orbit, and presented massive involvement of the anterior cranial fossa. Surgery allowed complete removal and a recurrence-free period of 7 years after surgery. Treatment options for these unusual cases are presented and details of histological diagnosis are discussed.
Topics: Child; Child, Preschool; Head; Humans; Infant; Myofibromatosis; Nasal Cavity; Skull Base
PubMed: 34244845
DOI: 10.1007/s00381-021-05271-z -
Children (Basel, Switzerland) Jan 2022Infantile myofibromatosis (IM) is a rare condition with a variable clinical presentation that characteristically affects young children. Most frequently it presents as...
Infantile myofibromatosis (IM) is a rare condition with a variable clinical presentation that characteristically affects young children. Most frequently it presents as one or more benign nodules of the skin, bones, soft tissues, or, rarely, visceral organs. According to the location and number of lesions, there are three different forms: solitary, multicentric without visceral involvement, and multicentric with visceral involvement (generalised), with the latter having the least favourable prognosis. We present a unique case of severe congenital generalised IM in a new-born male who required intubation and mechanical ventilation immediately after the birth due to respiratory distress. A chest radiograph showed numerous tumours involving the entire lung, resembling a metastatic lung disease. Additionally, the neonate had multiple, bluish, papular skin nodules and a biopsy of a skin nodule ultimately led to the diagnosis of IM. Diffuse lung involvement prevented adequate ventilation which resulted in multiorgan failure and death before targeted treatment could have been initiated. The presented case is unique, as such atypical extensive involvement of the lung and leptomeninges in IM has not been reported before. In this brief report, we present the findings of radiographic and ultrasonographic examinations in correlation with autopsy and histopathology.
PubMed: 35053678
DOI: 10.3390/children9010053 -
Journal of Pediatric Hematology/oncology Sep 2003Infantile myofibromatosis is the most common fibrous tumor of infancy. The generalized form of the disease is associated with a high rate of early mortality, especially... (Review)
Review
Infantile myofibromatosis is the most common fibrous tumor of infancy. The generalized form of the disease is associated with a high rate of early mortality, especially if visceral structures are involved. Various therapeutic strategies have been used in these patients, including high-dose chemotherapy, with the risk of therapy-related toxicity. The authors present two cases of generalized infantile myofibromatosis, with life-threatening visceral and nonvisceral involvement, in which the patients were cured with a combination of low-dose chemotherapy and intensive care. The authors propose a prospective international trial using a safe low-dose chemotherapy protocol to test the efficacy of this treatment strategy.
Topics: Antineoplastic Combined Chemotherapy Protocols; Combined Modality Therapy; Critical Care; Dactinomycin; Female; Humans; Infant, Newborn; Male; Methotrexate; Muscle Neoplasms; Myofibromatosis; Osteolysis; Prednisolone; Remission Induction; Respiration, Artificial; Skin Neoplasms; Soft Tissue Neoplasms; Vinblastine; Vincristine
PubMed: 12972815
DOI: 10.1097/00043426-200309000-00016 -
Journal of Neurosurgery Oct 1994Infantile 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 proliferative disorder of infancy and early childhood characterized by nodular or diffuse growth of lesions that are comprised of a mixture of mesenchymal elements within the skin, subcutaneous tissues, skeletal muscle, bone, and/or visceral organs. Although these pseudotumors are considered to be the most common fibrous "neoplasm" of infancy, central nervous system involvement is reportedly rare. During the last 7 years, the authors have treated three children with intracranial myofibromas who presented at 6 weeks, 7 months, and 3 3/4 years of age, respectively. Each child had a large calvarial mass that produced significant brain compression despite a paucity of neurological signs. On computerized tomography, these tumors were isodense to brain tissue, enhanced strongly with intravenous contrast material, and showed smoothly marginated bone erosion without surrounding sclerosis. On magnetic resonance imaging, the tumors were hypointense on T1-weighted images, with dense enhancement following the administration of intravenous contrast medium, and hyperintense on T2-weighted images. At operation, the tumors were highly vascular and appeared to arise from within the leaves of the dura, eroding through the overlying bone, but not violating the galeal or arachnoidal layers. Two of the lesions were adherent to major dural venous sinuses. Both of these lesions were completely resected in continuity with the involved dura, and have not recurred 6 years and 1 year, respectively, postoperatively. However, in one patient in whom the involved dura was not resected at the initial procedure, the tumor recurred rapidly. A complete excision of the tumor and involved dura was then performed and the patient is now recurrence-free, 5 1/2 years after the second surgical resection. All patients tolerated resection well, but two have required cranioplasty for persistent calvarial defects. The surgical experience with these lesions is reviewed and the distinctive features of their clinical presentation, radiographic appearance, operative management, and outcome are discussed.
Topics: Brain Neoplasms; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Magnetic Resonance Imaging; Male; Myofibromatosis; Neoplasm Recurrence, Local; Tomography, X-Ray Computed; Treatment Outcome
PubMed: 7931587
DOI: 10.3171/jns.1994.81.4.0539 -
The Journal of Laryngology and Otology Jun 1996Myofibromatosis is an uncommon, usually cutaneous, condition in which there is a benign proliferation of myofibroblasts. Solitary and multicentric nodular forms with,... (Review)
Review
Myofibromatosis is an uncommon, usually cutaneous, condition in which there is a benign proliferation of myofibroblasts. Solitary and multicentric nodular forms with, and without, visceral involvement have been described. Infantile and adult sub-types have been reported, each having distinct clinicopathological features. Presentation in the head and neck is common. It is frequently misdiagnosed because of its peculiar histological features. The first documented cases of infantile and adult myofibromatosis involving the nasal cavity are reported.
Topics: Adult; Child; Humans; Male; Middle Aged; Myofibromatosis; Nasal Cavity; Nose Neoplasms
PubMed: 8763382
DOI: 10.1017/s0022215100134309 -
Annales de Dermatologie Et de... Apr 2009Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and childhood. It is characterized by congenital tumours of the skin, striated muscle,...
BACKGROUND
Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and childhood. It is characterized by congenital tumours of the skin, striated muscle, bones and viscera. Most cases are sporadic and few familial cases have been reported.
PATIENTS AND METHODS
We describe a 5-month-old girl presenting with two congenital nodules. The diagnosis of infantile myofibromatosis was based on clinical and histopathological examination. Surgical excision was performed and there was no relapse at six years. The patient's brother presented multiple nodules and toe necrosis at birth due to infantile myofibromatosis. Two months later, the congenital nodules increased in size and new nodules developed. Surgical excision was performed. At 11 months of age, the boy presented with cranial relapse and bone resorption at P3 of the third right toe. The clinical and radiological investigations were normal.
DISCUSSION
Three clinical forms of IM have been described: solitary cutaneous nodules, multiple cutaneous nodules and generalized MI with visceral involvement. The prognosis is good except in generalized MI. All familial cases of MI may be interpreted as autosomal dominant or alternatively there may be genetic heterogeneity. Strict follow-up is recommended to identify potentially life-threatening complications. Spontaneous regression usually occurs but in some cases the treatment of choice is surgical removal.
Topics: Child; Child, Preschool; Female; Humans; Infant; Male; Nail Diseases; Primary Myelofibrosis; Siblings; Skin Neoplasms
PubMed: 19361702
DOI: 10.1016/j.annder.2008.10.034 -
Pediatric Surgery International Nov 1998The authors describe an extremely rare presentation of congenital infantile myofibromatosis. A full-term newborn boy presented with a thumb-sized subcutaneous mass on... (Review)
Review
The authors describe an extremely rare presentation of congenital infantile myofibromatosis. A full-term newborn boy presented with a thumb-sized subcutaneous mass on the mid-spinal line between the 2nd and 3rd lumbar spinous processes. A solid tumor arising from the interspinous ligament was resected. Microscopic and immunohistochemical studies revealed myofibromatosis.
Topics: Humans; Infant; Ligaments; Lumbar Vertebrae; Male; Myofibromatosis; Soft Tissue Neoplasms
PubMed: 9880725
DOI: 10.1007/s003830050463 -
Zhonghua Bing Li Xue Za Zhi = Chinese... Feb 2023To investigate the clinicopathological features, diagnosis and differential diagnosis of pediatric myofibroma/myofibromatosis of the soft tissue and bone. All cases of...
To investigate the clinicopathological features, diagnosis and differential diagnosis of pediatric myofibroma/myofibromatosis of the soft tissue and bone. All cases of pediatric myofibroma/myofibromatosis of the soft tissue and bone diagnosed between January 2011 and December 2018 were retrieved from the surgical pathology records in the Department of Pathology, Beijing Jishuitan Hospital, Beijing, China. Clinical and radiological data were collected. H&E and immunohistochemistry were used to examine histological and immunophenotypic features and to make the diagnosis and differential diagnosis. The relevant literature was also reviewed. Twenty-eight cases of pediatric myofibroma/myofibromatosis of the soft tissue and bone were respectively collected. The patients' ages ranged from 2 months to 14 years, with a mean age of 7 years. There were 7 females and 21 males. There were 12 cases located in soft tissue, including the finger (=9), upper arm (=1) and foot (=2). There were 14 cases located in the bone of limb, including the femur (=8), tibia (=4), clavicle (=2), fibula (=2) and radius (=1). There were 2 cases of myofibromatosis involving multiple bones. Radiology showed lytic lesions in the bone. The proliferation of spindle-shaped myofibroblasts arranged in fascicles with indistinct eosinophilic cytoplasm and bland nuclei, with no pleomorphism and cytological atypia. The characteristic histologic structure was the biphasic nodular growth pattern with cellular and paucicellular regions. The tumors might arrange in a hemangiopericytoma-like pattern. The stroma varied between dense fibrosis and myxoid changes. The reactive new bone formation and inflammatory cell infiltration also existed. Immunohistochemical study showed that the SMA was positive. The surgical resections were performed. One of the patients had tumor recurrence as a result of 11-month follow-up. The pediatric myofibroma/myofibromatosis of the soft tissue and bone is a very rare benign tumor and has a good prognosis. It has a characteristic morphology and its differential diagnosis from other spindle cell tumors could be made with the immunohistochemical analysis.
Topics: Child; Female; Humans; Infant; Male; Bone and Bones; Diagnosis, Differential; Leiomyoma; Myofibroma; Myofibromatosis; Child, Preschool; Adolescent
PubMed: 36748135
DOI: 10.3760/cma.j.cn112151-20221017-00856