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Dermatology Online Journal Apr 2017Infantile myofibromatosis is a rare disorder of fibroblastic/myofibroblastic proliferation and represents the most frequent type of mesenchymal tumor in the neonatal...
Infantile myofibromatosis is a rare disorder of fibroblastic/myofibroblastic proliferation and represents the most frequent type of mesenchymal tumor in the neonatal period and primary infancy.Three clinical types have been described: solitary, multicentric, and generalized (with visceral involvement). A correct characterization of the histopathology is essential to diagnose these neoplasias in early infancy. We present a case of multicentric infantile myofibromatosis with regression over time.
Topics: Female; Humans; Infant; Myofibromatosis; Neoplasm Regression, Spontaneous
PubMed: 28541875
DOI: No ID Found -
Asian Journal of Surgery Jan 2022
Topics: Diagnostic Imaging; Humans; Leiomyoma; Magnetic Resonance Imaging; Myofibroma; Myofibromatosis
PubMed: 34848146
DOI: 10.1016/j.asjsur.2021.10.024 -
Ophthalmology Science 2024To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.
PURPOSE
To investigate the genetic cause, clinical characteristics, and potential therapeutic targets of infantile corneal myofibromatosis.
DESIGN
Case series with genetic and functional analyses.
PARTICIPANTS
Four individuals from 2 unrelated families with clinical signs of corneal myofibromatosis were investigated.
METHODS
Exome-based panel sequencing for platelet-derived growth factor receptor beta gene () and notch homolog protein 3 gene () was performed in the respective index patients. One clinically affected member of each family was tested for the pathogenic variant detected in the respective index by Sanger sequencing. Immunohistochemical staining on excised corneal tissue was conducted. Functional analysis of the individual variants was performed by luciferase reporter assays on transfected porcine aortic endothelial cells using tyrosine kinase inhibitors. Protein expression analysis of mutated PDGFRB was analyzed by Western blot.
MAIN OUTCOME MEASURES
Sequencing data, immunohistochemical stainings, functional analysis of variants, and protein expression analysis.
RESULTS
We identified 2 novel, heterozygous gain-of-function variants in in 4 individuals from 2 unrelated families with corneal myofibromatosis. Immunohistochemistry demonstrated positivity for alpha-smooth muscle actin and β-catenin, a low proliferation rate in Ki-67 (< 5%), marginal positivity for Desmin, and negative staining for Caldesmon and CD34. In all patients, recurrence of disease occurred after corneal surgery. When transfected in cultured cells, the variants conferred a constitutive activity to the receptor in the absence of its ligand and were sensitive to the tyrosine kinase inhibitor imatinib. The variants can both be classified as likely pathogenic regarding the American College of Medical Genetics and Genomics classification criteria.
CONCLUSIONS
We describe 4 cases of corneal myofibromatosis caused by novel variants with autosomal dominant transmission. Imatinib sensitivity suggests perspectives for targeted therapy preventing recurrences in the future.
FINANCIAL DISCLOSURES
Proprietary or commercial disclosure may be found in the Footnotes and Disclosures at the end of this article.
PubMed: 38374928
DOI: 10.1016/j.xops.2023.100444 -
Molecular and Clinical Oncology Apr 2017Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend...
Myofibromatosis is an uncommon disorder of infancy, characterized by proliferation of myofibroblasts in solitary or multiple nodules. The clinical characteristics depend on the involved sites: Myofibromatosis may develop as a musculoskeletal form, with non-painful swellings and eventual mass effect symptoms, or as a generalized form with visceral involvement and organ failure. Prognosis and therapy vary between the abovementioned patterns. When there is no visceral involvement, the tumors may regress spontaneously; however, the visceral form may represent a lifethreatening condition with poor outcome and it requires aggressive management. Imaging assessment of disease spread is mandatory to determine diagnosis, prognosis and therapy. Due to the young age of the patients, a radiation-free evaluation is recommended. We herein describe a case of musculoskeletal myofibromatosis diagnosed in a 3-month-old male infant, investigated by serial wholebody magnetic resonance imaging (MRI) examination. The histological analysis and MRI characteristics enabled a correct diagnosis and organ involvement assessment with no radiation exposure. Moreover, whole-body MRI sequences provided a detailed evaluation of the disease within a short time frame, reducing the time of sedation, which is required to perform MRI in very young patients. Therefore, whole-body MRI was found to be accurate and safe in the diagnosis and follow-up of multicentric infantile myofibromatosis.
PubMed: 28413672
DOI: 10.3892/mco.2017.1171 -
Hua Xi Kou Qiang Yi Xue Za Zhi = Huaxi... Oct 2020Infantile myofibromatosis is a rare benign childhood myofibroblastoma. A case of infantile myofibromatosis of the left mandible was reported, and relevant literature was...
Infantile myofibromatosis is a rare benign childhood myofibroblastoma. A case of infantile myofibromatosis of the left mandible was reported, and relevant literature was reviewed to discuss the clinical characteristics, pathogenesis, imaging characteristics, pathological characteristics, differential diagnosis, and the treatment of the tumor to improve the understanding of the tumor.
Topics: Child; Diagnosis, Differential; Humans; Mandible; Myofibromatosis; Neoplasms, Muscle Tissue
PubMed: 33085248
DOI: 10.7518/hxkq.2020.05.021 -
Surgical Case Reports Apr 2024Myofibromas are rare mesenchymal tumors with a predilection for the head, neck, and oral cavity. Primarily affecting infants and young children, these tumors typically...
BACKGROUND
Myofibromas are rare mesenchymal tumors with a predilection for the head, neck, and oral cavity. Primarily affecting infants and young children, these tumors typically manifest as superficial painless nodules. Diagnosis is confirmed through histopathological examination of a biopsy, revealing nodules characterized by spindle cell proliferation. To our knowledge, only two cases of pinna myofibroma have been previously reported in the literature.
CASE PRESENTATION
Here, we present the case of a three-year-old male who developed a myofibroma of the left auricle following trauma to the area one year earlier. The patient underwent surgical resection without any postoperative complications. The patient later returned with a lesion consistent with hypertrophic scar.
CONCLUSIONS
This study aims to provide a comprehensive review of the clinical presentation, histopathologic and immunohistochemical features, and surgical management of this unique case of myofibroma of the pinna.
PubMed: 38652337
DOI: 10.1186/s40792-024-01879-w -
Dermatopathology (Basel, Switzerland) Aug 2021Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions' clinical aspect (color and...
Multiple papulonodular skin lesions at birth can indicate the presence of various benign and malignant disorders. Although the lesions' clinical aspect (color and consistency, in particular) may steer the clinician towards one disorder or another (infantile myofibromatosis, xanthogranuloma, or metastatic neuroblastoma), the diagnosis can only be confirmed by the histopathologic assessment of a biopsy. In neonates, a rapid but accurate diagnosis is critical because skin lesions may be the first manifestation of a malignant disorder like leukemia cutis or metastatic neuroblastoma. Here, we review the various disorders that may manifest themselves as multiple skin lesions at birth.
PubMed: 34449594
DOI: 10.3390/dermatopathology8030043 -
Medicine Dec 2021The purpose of this study was to investigate the upper trapezius muscle thickness (UTMT) in congenital muscular torticollis (CMT) patients and determine the correlation... (Observational Study)
Observational Study
The purpose of this study was to investigate the upper trapezius muscle thickness (UTMT) in congenital muscular torticollis (CMT) patients and determine the correlation among sternocleidomastoid muscle thickness (SCMT), accessory nerve (AN) cross-sectional area (CSA), and UTMT in CMT.This retrospective study consisted of 2 participant groups: Group 1 (SCM mass CMT, n = 20) and Group 2 (Postural CMT, n = 22). For both groups, B-mode ultrasound was performed by a physiatrist to measure the SCMT and UTMT and calculate the CSA of the AN. The correlation among SCMT, CSA of the AN, and UTMT in both groups was evaluated.The between-group comparison revealed that Group 1 had significantly greater SCMT, UTMT, and CSA of the AN on the affected side than Group 2 (P < .05). The intragroup comparison between the affected and unaffected sides also revealed that, in Group 1, the SCMT, UTMT, and CSA of the AN were significantly higher on the affected side than on the unaffected side (P < .05), whereas no significant differences were observed in Group 2. In Group 1, a positive correlation (r = 0.55) was observed between the UTMT and CSA of the AN on the affected side, but not observed between the SCMT and CSA of the AN.The findings of the study indicate that sternocleidomastoid muscle size may impact the thickness of the upper trapezius muscle via the accessory nerve in patients with congenital torticollis.
Topics: Adult; Female; Fibroma; Humans; Male; Middle Aged; Myofibromatosis; Neck Muscles; Retrospective Studies; Superficial Back Muscles; Torticollis; Ultrasonography
PubMed: 34967390
DOI: 10.1097/MD.0000000000028466 -
American Journal of Human Genetics Jun 2013Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and...
Infantile myofibromatosis (IM) is a disorder of mesenchymal proliferation characterized by the development of nonmetastasizing tumors in the skin, muscle, bone, and viscera. Occurrence within families across multiple generations is suggestive of an autosomal-dominant (AD) inheritance pattern, but autosomal-recessive (AR) modes of inheritance have also been proposed. We performed whole-exome sequencing (WES) in members of nine unrelated families clinically diagnosed with AD IM to identify the genetic origin of the disorder. In eight of the families, we identified one of two disease-causing mutations, c.1978C>A (p.Pro660Thr) and c.1681C>T (p.Arg561Cys), in PDGFRB. Intriguingly, one family did not have either of these PDGFRB mutations but all affected individuals had a c.4556T>C (p.Leu1519Pro) mutation in NOTCH3. Our studies suggest that mutations in PDGFRB are a cause of IM and highlight NOTCH3 as a candidate gene. Further studies of the crosstalk between PDGFRB and NOTCH pathways may offer new opportunities to identify mutations in other genes that result in IM and is a necessary first step toward understanding the mechanisms of both tumor growth and regression and its targeted treatment.
Topics: Amino Acid Sequence; Base Sequence; Female; Genes, Dominant; Genetic Association Studies; Humans; Male; Mutation, Missense; Myofibromatosis; Pedigree; Receptor, Notch3; Receptor, Platelet-Derived Growth Factor beta; Receptors, Notch; Sequence Analysis, DNA
PubMed: 23731542
DOI: 10.1016/j.ajhg.2013.04.024 -
BMJ Case Reports May 2021Myofibromas are benign neoplasms of myofibroblastic origin and rarely encountered in the oral cavity. Myofibroma may frequently grow rapidly leading to suspicion of...
Myofibromas are benign neoplasms of myofibroblastic origin and rarely encountered in the oral cavity. Myofibroma may frequently grow rapidly leading to suspicion of malignancy. This may lead to a tendency for aggressive management. The histopathology of this tumour has similarity with other spindle cell tumours and often requires immunohistochemical staining for diagnosis. Here, we present a case of myofibroma in a 15-year-old female patient who reported with an aggressive gingival swelling and discuss the various histopathological differential diagnosis.
Topics: Adolescent; Diagnosis, Differential; Female; Gingiva; Humans; Leiomyoma; Myofibroma; Myofibromatosis
PubMed: 33958368
DOI: 10.1136/bcr-2021-242700