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Radiology Case Reports Jan 2024Infantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis)...
Infantile myofibromatosis (IM) is a mesenchymal tumor that may present in infants in a couple of major forms: solitary (myofibroma) and multicentric (myofibromatosis) which can be more subdivided into IM without or with visceral involvement. The tumors present as nodular lesions in the soft tissues, bones, and/or internal organs. Although the success of imaging in suggesting the correct diagnosis can't be denied, histopathology and Immunohistochemical examinations are necessary to confirm the diagnosis of IM as it might be misdiagnosed as a malignant tumor. We report a case of solitary infantile myofibromatosis in the upper extremities discovered in a 9-year-old girl. She had swelling and an enlargement on the posterior forearm on the ulnar side. The X-ray showed a lytic lesion with swollen soft tissue. The patient underwent an MRI which suggested the diagnosis of myofibroma. Then, solitary myofibroma was confirmed histologically. Infancy's most prevalent fibrous tumor is IM. Its prognosis depends on the visceral involvement. Imaging, especially MRI is the ideal tool to diagnose it.
PubMed: 38046916
DOI: 10.1016/j.radcr.2023.09.063 -
BMC Medical Genomics Aug 2023Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases... (Review)
Review
BACKGROUND
Infantile myofibromatosis (IM) is a rare disorder characterized by the formation of nodules in the skin, muscle, bone, and, more rarely, visceral organs. Very few cases are detected prenatally, and the final diagnosis cannot be made until pathology is completed after birth. Here, we present a case of disseminated form IM (DFIM) with a diagnosis established on prenatal genetic grounds.
CASE PRESENTATION
A woman at 23 weeks of gestation was referred for ultrasound evaluation of fetal kidney abnormality. Generalized masses in the skin and muscle of the fetus developed at 28 weeks. Prenatal genetic testing identified the pathogenic heterozygous variant c.1681C > T (p.R561C) of the PDGFRB gene inherited from the asymptomatic father. Intrauterine demise occurred at 31 weeks. Autopsy confirmed DFIM with involvement of the heart and kidney. All cases of prenatally detected IM were reviewed, revealing an association of high mortality with DFIM.
CONCLUSIONS
Prenatal IM diagnosis is difficult. Initial detection is always based on ultrasound. DFIM has high mortality. The germline p.R561C mutation in PDGFRB may cause fetal demise due to severe visceral involvement of IM. Prenatal genetic testing provides a diagnosis before pathological results are available, leading to better counseling and management of pregnancy with a fetus with IM.
Topics: Pregnancy; Female; Humans; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta; Germ-Line Mutation; Prenatal Diagnosis
PubMed: 37568122
DOI: 10.1186/s12920-023-01612-w -
Journal of Pediatric Hematology/oncology Oct 2023Infantile myofibromatosis (IM) is a rare benign tumor of infancy. Cases with solitary and multicentric disease usually spontaneously regress, but multicentric disease...
BACKGROUND
Infantile myofibromatosis (IM) is a rare benign tumor of infancy. Cases with solitary and multicentric disease usually spontaneously regress, but multicentric disease with visceral involvement carries a poor prognosis. Few cases of multicentric disease with central nervous system (CNS) involvement have been reported, and none report survival.
OBSERVATIONS
We present a newborn with multicentric IM with cutaneous, visceral, and CNS involvement. She was treated with vinblastine, methotrexate, and the novel addition of intrathecal methotrexate with treatment response after 1 year of therapy.
CONCLUSIONS
Multicentric IM with CNS involvement can be successfully treated with a multimodal approach of chemotherapy with the addition of intrathecal methotrexate and surgery.
Topics: Infant, Newborn; Female; Humans; Methotrexate; Myofibromatosis; Vinblastine
PubMed: 37526359
DOI: 10.1097/MPH.0000000000002717 -
General Dentistry 2023Intraosseous myofibroma is a rare tumor of benign nature, slow growth, and low morbidity. The aim of this article is to report a case of pathologic fracture associated...
Intraosseous myofibroma is a rare tumor of benign nature, slow growth, and low morbidity. The aim of this article is to report a case of pathologic fracture associated with the incidental diagnosis of myofibroma in the mandible of an adolescent. A 15-year-old girl reported that she experienced a physical assault resulting in facial injuries 1 month previously and had since experienced severe pain, malocclusion, and chewing difficulty. The cone beam computed tomographic examination revealed multiple features suggestive of pathologic fracture associated with a hypodense lesion with lobulated limits, as well as expansion and thinning of the cortical bone in the left mandible. The histopathologic diagnosis of the lesion indicated myofibroma. Treatment consisted of enucleation and curettage of the lesion with reduction and internal fixation of the fracture. After 18 months, the osteosynthesis plates and an impacted mandibular third molar were removed. Curettage of the lesion in association with treatment of the mandibular fracture proved to be effective for both bone consolidation and absence of recurrence while restoring mandibular functionality.
Topics: Female; Adolescent; Humans; Mandibular Neoplasms; Myofibroma; Mandibular Fractures; Fractures, Spontaneous; Mandible; Skin Neoplasms
PubMed: 37358580
DOI: No ID Found -
Journal of Surgical Case Reports May 2023Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and early childhood. Solitary intracranial involvement is rare and often unrecognized. This...
Infantile myofibromatosis (IM) is the most common fibrous disorder of infancy and early childhood. Solitary intracranial involvement is rare and often unrecognized. This makes its early diagnosis and adequate management difficult. The majority of lesions are localized to the skull or dura with variable intracranial extension. Herein, we report a misdiagnosed and aggressive presentation of a solitary IM of the petrous bone. Our aim is to discuss histopathological differential diagnoses and management difficulties.
PubMed: 37192874
DOI: 10.1093/jscr/rjad237 -
Cureus Mar 2023Infantile myofibromatosis is an uncommon soft tissue neoplasm that may present at birth or in early infancy. Although rare, this neoplasm is one of the most common...
Infantile myofibromatosis is an uncommon soft tissue neoplasm that may present at birth or in early infancy. Although rare, this neoplasm is one of the most common benign fibrous tumors of infancy. Even though these tumors do not spread, they can compress or damage nearby organs. There is not an established management protocol, but it is advisable to maintain periodic clinical and imagological control until stability. Watchful waiting is an option to consider in the absence of problematic symptoms and visceral involvement. We report a case of solitary infantile myofibromatosis, without visceral involvement. It showed an initial rapid growth, raising concern among medical doctors and motivating soft tissue biopsy, always recommended as the clinical picture deviates from the classic presentation. Histology interpretation is often challenging, making genetics and clinical evaluation essential to exclude and prevent the misdiagnosing of more aggressive lesions.
PubMed: 37033510
DOI: 10.7759/cureus.35885 -
Dermatologic Surgery : Official... Apr 2023
Topics: Humans; Myofibromatosis
PubMed: 36943733
DOI: 10.1097/DSS.0000000000003731 -
Zeitschrift Fur Geburtshilfe Und... Jun 2023Infantile myofibromatosis is a rare benign congenital tumour that often regresses spontaneously but may pose therapeutic challenges in its widespread visceral form. We...
Infantile myofibromatosis is a rare benign congenital tumour that often regresses spontaneously but may pose therapeutic challenges in its widespread visceral form. We present the case of a full-term neonate with generalized infantile myofibromatosis including ubiquitous subcutaneous and muscular nodules, a tumour in the mastoid and disseminated intestinal involvement. The intestinal tumours led to a mechanical ileus with intestinal perforation within the first days of life. After partial small bowel resection and necessary proximal jejunostomy the boy was dependent on total parenteral nutrition. Chemotherapy with vinblastine and methotrexate was started and was temporarily supplemented with imatinib. Feeding stayed impossible despite tumour shrinkage. At the age of 4.5 months, restoration of intestinal continuity with further stricturoplasties was performed which - for the first time - allowed complete oral feeding. Chemotherapy was continued for further two months. Currently, the child is in good general condition with growth and further disease regression. This report suggests that massive visceral involvement of infantile myofibromatosis may require extensive intestinal surgery, as conservative therapy cannot resolve the disease and its sequelae.
Topics: Infant, Newborn; Male; Child; Humans; Infant; Myofibromatosis; Imatinib Mesylate
PubMed: 36921614
DOI: 10.1055/a-2018-5454 -
Pediatric Blood & Cancer Jun 2023
Topics: Humans; Myofibromatosis; Tumor Suppressor Proteins
PubMed: 36861442
DOI: 10.1002/pbc.30278 -
Pediatric Blood & Cancer Jun 2023
Topics: Humans; Myofibromatosis; Receptor, Platelet-Derived Growth Factor beta; Genomics; Germ Cells
PubMed: 36861440
DOI: 10.1002/pbc.30262