-
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 -
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 -
Journal of Maxillofacial and Oral... Mar 2015Myofibroma and myofibromatosis is a well-recognized spindle cell neoplasm that occurs predominantly in infants and young children. They have been described under...
Myofibroma and myofibromatosis is a well-recognized spindle cell neoplasm that occurs predominantly in infants and young children. They have been described under different names since 1951. These lesions are a benign fibroblast and myofibroblast proliferation containing a biphasic presentation of spindle shaped cells surrounding a central zone of less differentiated cells focally arranged in a hemangiopericytoma like pattern. Classically these lesions are described in children younger than two, with 2/3rd present at birth and rarely in adults. Controversy exists as to an autosomal dominant or recessive inheritance or to a sporadic occurrence. Presented here is a unique case of myofibroma involving the mandible in a 11 year-old male patient. Clinically it mimicked more like a beningn tumor and not exhibiting any of its classical signs. The diagnosis could be established only after complete excision of the lesion and histopathological examination. There was no recurrence after a follow up period of 4 months.
PubMed: 25838671
DOI: 10.1007/s12663-011-0299-5 -
Ultrasound in Obstetrics & Gynecology :... Apr 2019
Topics: Fatal Outcome; Female; Humans; Infant, Newborn; Myofibromatosis; Pregnancy; Ultrasonography, Prenatal; Young Adult
PubMed: 29749081
DOI: 10.1002/uog.19082 -
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 -
European Journal of Human Genetics :... Apr 2019Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause...
Missense variants located to the "molecular brake" in the tyrosine kinase hinge region of platelet-derived growth factor receptor-β, encoded by PFGFRB, can cause Penttinen-type (Val665Ala) and Penttinen-like (Asn666His) premature ageing syndromes, as well as infantile myofibromatosis (Asn666Lys and Pro660Thr). We have found the same de novo PDGFRB c.1997A>G p.(Asn666Ser) variants in two patients with lipodystrophy, acro-osteolysis and severely reduced vision due to corneal neovascularisation, reminiscent of a severe form of Penttinen syndrome with more pronounced connective tissue destruction. In line with this phenotype, patient skin fibroblasts were prone to apoptosis. Both in patient fibroblasts and stably transduced HeLa and HEK293 cells, autophosphorylation of PDGFRβ was observed, as well as increased phosphorylation of downstream signalling proteins such as STAT1, PLCγ1, PTPN11/SHP2-Tyr580 and AKT. Phosphorylation of MAPK3 (ERK1) and PTPN11/SHP2-Tyr542 appeared unaffected. This suggests that this missense change not only weakens tyrosine kinase autoinhibition, but also influences substrate binding, as both PTPN11 tyrosines (Tyr542 and Tyr580) usually are phosphorylated upon PDGFR activation. Imatinib was a strong inhibitor of phosphorylation of all these targets, suggesting an option for precision medicine based treatment.
Topics: Acro-Osteolysis; Adult; Aging; Apoptosis; Cockayne Syndrome; Female; Genetic Predisposition to Disease; HeLa Cells; Humans; Imatinib Mesylate; Limb Deformities, Congenital; Male; Mitogen-Activated Protein Kinase 3; Mutation, Missense; Myofibromatosis; Phenotype; Phosphorylation; Progeria; Protein Interaction Maps; Protein Tyrosine Phosphatase, Non-Receptor Type 11; Protein-Tyrosine Kinases; Receptor, Platelet-Derived Growth Factor beta; Signal Transduction
PubMed: 30573803
DOI: 10.1038/s41431-018-0323-z -
Archives of Pathology & Laboratory... Oct 2005Myofibromas are benign mesenchymal neoplasms of myofibroblastic origin. Most present as solitary lesions at any age, but the presentation of multiple lesions in newborns... (Review)
Review
Myofibromas are benign mesenchymal neoplasms of myofibroblastic origin. Most present as solitary lesions at any age, but the presentation of multiple lesions in newborns and infants is known as infantile myofibromatosis. Multicentric lesions commonly involve soft tissues and bone and may involve internal organs, where they are associated with an unfavorable prognosis. Solitary lesions involving the viscera are rare. We report a case of a 3-month-old male infant with a left testicular mass detected during an evaluation for suspected torsion. The patient underwent orchiectomy, revealing a nodular mass with grossly evident foci of necrosis. Histologically, the lesion exhibited small fascicles of plump eosinophilic, smooth muscle actin-positive spindle cells, alternating with larger areas of primitive cells with vesicular nuclei and scant cytoplasm arranged around a hemangiopericytoma-like vasculature. To our knowledge, this is the first report of a myofibroma localized within the testis.
Topics: Actins; Biomarkers, Tumor; Diagnosis, Differential; Fasciitis; Hamartoma; Histiocytoma, Benign Fibrous; Humans; Infant; Male; Myofibroma; Neurofibroma; Orchiectomy; Sex Cord-Gonadal Stromal Tumors; Testicular Neoplasms
PubMed: 16196524
DOI: 10.5858/2005-129-1322-STMACR -
Genetics and Molecular Research : GMR Aug 2014Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis...
Infantile myofibromatosis is a rare genetic disorder characterized by the development of benign tumors in the skin, muscle, bone, and viscera. The molecular pathogenesis is still incompletely known. An autosomal dominant form had been reported as causally related with mutations in the gene for platelet-derived growth factor receptor beta (PDGFRB). We report here two siblings with infantile myofibromatosis and with a PDGFRB mutation identified by exome sequence analysis. However, the unaffected mother also had the same PDGFRB mutation. We showed that both children had also inherited from their healthy father a heterozygous mutation in the gene for receptor protein tyrosine phosphatase gamma (PTPRG), an enzyme known to dephosphorylate PDGFRB. We suggest that in this family, the additional mutation in PTPRG may explain the full phenotypic penetrance in the siblings affected, in comparison with the unaffected mother.
Topics: Adult; Base Sequence; Child; Exome; Female; Gene Expression Regulation; Genes, Modifier; Genotype; Heterozygote; Homozygote; Humans; Male; Molecular Sequence Data; Mutation; Myofibromatosis; Pedigree; Penetrance; Phenotype; Receptor, Platelet-Derived Growth Factor beta; Receptor-Like Protein Tyrosine Phosphatases, Class 5; Siblings
PubMed: 25158255
DOI: 10.4238/2014.August.15.11 -
Cold Spring Harbor Molecular Case... Oct 2019Infantile myofibromatosis (IM) is an aggressive neoplasm composed of myofibroblast-like cells in children. Although typically localized, it can also present as...
Infantile myofibromatosis (IM) is an aggressive neoplasm composed of myofibroblast-like cells in children. Although typically localized, it can also present as multifocal disease, which represents a challenge for effective treatment. IM has previously been linked to activating somatic and germline point mutations in the PDGFRβ tyrosine kinase encoded by the gene. Clinical panel-based targeted tumor sequencing of a tumor from a newborn with multifocal IM revealed a novel rearrangement, which was reported as being of unclear significance. Additional sequencing of cDNA from tumor and germline DNA confirmed a complex somatic/mosaic rearrangement with an apparent partial tandem duplication disrupting the juxtamembrane domain. Ectopic expression of cDNA encoding the mutant form of PDGFRB markedly enhanced cell proliferation of mouse embryo fibroblasts (MEFs) compared to wild-type PDGFRB and conferred tumor-forming capacity on nontumorigenic 10T1/2 fibroblasts. The mutated protein enhanced MAPK activation and retained sensitivity to the PDGFRβ inhibitor imatinib. Our findings reveal a new mechanism by which PDGFRB can be activated in IM, suggest that therapy with tyrosine kinase inhibitors including imatinib may be beneficial, and raise the possibility that this receptor tyrosine kinase might be altered in a similar fashion in additional cases that would similarly present annotation challenges in clinical DNA sequencing analysis pipelines.
Topics: Animals; Cell Line; Extracellular Signal-Regulated MAP Kinases; Female; Fibroblasts; Germ-Line Mutation; Humans; Imatinib Mesylate; Infant, Newborn; Mice; Myofibromatosis; Protein Kinase Inhibitors; Receptor, Platelet-Derived Growth Factor beta
PubMed: 31645346
DOI: 10.1101/mcs.a004440