Clinicopathological features of myofibromas and myofibromatosis affecting the oral and maxillofacial region: A systematic review.

BACKGROUND: Myofibromas are rare benign neoplasms composed of myoid cells and myofibroblasts. This study aimed to systematically review case reports and a series of myofibromas (MF) and myofibromatosis (MFT) occurring in the oral and maxillofacial regions in order to describe their main clinicopathological features. METHODS: This systematic review was conducted according to the Preferred Reporting Items for Systematic Reviews and Meta-Analyses guidelines. Electronic searches were conducted in 2023 in four databases: MEDLINE/PubMed, Web of Science, Scopus, and EMBASE. A manual search and a search in the grey literature were also conducted. The lesions were classified as MF or MFT according to their original report. RESULTS: A total of 169 cases were included in this systematic review. Men were slightly more affected, with a painless nodule. When occurring in soft tissue, MF usually developed in the gingiva (mean age:29.23 ± 21.93 years) and when it was intra-osseous, it occurred more frequently in the posterior mandible (mean age:14.33 ± 15.62 years). MFT occurred mainly in the mandible and was predominantly described as well-circumscribed masses of spindle cells organized in fascicles with a prominent vascular activity in a hemangiopericytoma-like pattern. The lesions were mainly positive for smooth muscle actin and vimentin immunomarkers. Surgical excision was the treatment of choice in the majority of cases and recurrence was observed in only three cases. CONCLUSION: MF and MFT affect more men, with an indolent clinical course. Intra-osseous tumors and MFT seem to occur more frequently in younger individuals. These lesions seem to have a good prognosis and low recurrence.

Oral myofibroma presenting as an aggressive gingival lesion.

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.

Atypical Myofibroblastic Tumor of the Oral Cavity in a Child.

A myofibroma is a relatively rare neoplasm characterized by its spindle cell proliferation. This lesion can present as a unifocal mass (myofibroma) or multifocal growths (myofibromatosis) in the skin, soft tissue, bone, or internal organs. In the oral cavity, the tumor is commonly identified on the tongue, mucosa, lips, and mandible. Myofibroma classically occurs in infants and young children. Its fast-growing nature often mimics a sarcoma; however, it is a benign tumor. The purpose of this article is to report the case of an eight-year-old boy who presented with a localized, painless, nodular mass in the palate and gingiva. Through clinical, radiological, and immunohistochemical evaluation, the diagnosis of an atypical myofibroblastic tumor was made after resection of the mass. With interprofessional team management, the patient's quality of life was improved.

[Left mandibular infantile myofibromatosis: a case report].

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.

Infantile myofibromatosis treated by mandibulectomy and staged reconstruction with submental flap and free fibula flap: a case report.

BACKGROUND: Infantile myofibromatosis is the most common benign fibrous tumor in infants. Three different types have been reported in the literature. The most commonly affected areas are the head, the neck and the trunk. Our patient showed a very high level of mandibular destruction resistant to all mandibular sparing treatment strategies requiring segmental mandibulectomy and complex reconstruction. CASE PRESENTATION: We describe a rare case of multicentric infantile myofibromatosis with mandibular bone destruction. The treatment required a succession of chemotherapy, a subtotal transoral resection and a hemi-mandibulectomy. The mandibular reconstruction was staged with initial bridging titanium plate with a submental flap, followed later by a fibula free flap. CONCLUSION: Mandibular involvement by myofibromatosis is rare, and the extend of bone destruction and reconstruction make this case unique. To our knowledge, this is the only reported case of fibula free flap mandibular reconstruction in a patient with infantile myofibromatosis , as well as one of the youngest reported submental island flaps for any pathology. We describe the clinical presentation and management, including relevant imaging, histopathology, medical and surgical treatment as well as a review of relevant literature.

Agressive pediatric myofibromatosis in a two-year-old child.

INTRODUCTION: Aggressive paediatric myofibromatosis is an autosomal recessive disease characterized by fibroblastic proliferation from cells originated in muscle-aponeurotic tissue. Its etiology is unknown, and the average age of the reported cases is 7 years old. The tumor exhibits rapid painless growth and appears attached to muscle tissue and/or bone. The treatment of choice is conservative surgical excision despite of early relapses has been reported. OBSERVATION: A 2-year-old patient, with no morbid history, presented with a large swelling in the left submandibular region, firm, neither defined limits nor inflammatory characteristics. Its size doubled 2 months after an incisional biopsy. CT images showed great compromise of the left mandibular body with expanded and thinned cortical bone. The MRI showed extension towards the pharynx. Histopathological findings were elongated fibroblastic and ovoid cells arranged in bundles and fascicles within fibromyxoid stroma, an image consistent with the diagnosis. The treatment consisted in a conservative exeresis of the tumor, preserving the jaw. Control 1 year after surgical removal shows no signs of relapse and the mandibular structure has been restored. DISCUSSION: The large size of the lesion and bone involvement at such an early age evidenced a very aggressive lesion, however, supported by a previous biopsy, we performed a conservative treatment, which only caused the loss of a dental germ, impossible to take off from the intraosseous tumor. The control of this type of lesions requires a longer follow-up.

[Giant form of infantile myofibromatosis located on the jaw]. / Forme géante de myofibromatose infantile localisée à la joue.

INTRODUCTION: Infantile myofibromatosis is a rare fibrovascular-like tumour, characterized by the development of single or multiple nodular lesions arising from cutaneous, subcutaneous, muscular bone or visceral structures, diagnosed before 2 years. OBSERVATION: We report a case of infantile myofibromatosis located on the jaw, which is unique because of its large size (12 cm), its location and its neonatal presentation. It was a voluminous proliferate tumour with an ulcerated centre, located on the left jaw. Surgical excision was complete and the diagnosis was maded on histological examination. Recovery was uncomplicated with no recurrence on follow up. DISCUSSION: Diagnosis of infantile myofibromatosis is difficult because of the clinical heterogeneity and the histopathological appearance. The histological diagnosis relies on identification of two separate components, fascicular myofibroblastic at the periphery and hemangiopericytome in the centre. The most freqaent treatment is conservative surgical excision, because recurrence rates are low and there is a possibility of spontaneous regression. Some authors recommend conservative management of very large or multiple lesions particularly if excision will result in significant functional or cosmetic morbidity.

Myofibromatosis: a case report with a unique clinical presentation.

Myofibroma and myofibromatosis have been described under different names since 1951. These lesions are a benign fibroblastic and myofibroblastic 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 2, with two thirds present at birth, and rarely in adults. The typical clinical presentation shows variable growth pattern of a painless purple to pink soft tissue mass, often showing secondary ulceration. Controversy exists as to an autosomal dominant or recessive inheritance versus sporadic occurrence. Presented here is a unique case of myofibromatosis presenting first as a superficial scalp lesion at age 2, followed by other primary lesions of the right mandibular vestibule, right temple, and left mandibular vestibule at ages 9, 12, and 23, respectively. All were treated with excision, without recurrence at the primary site.

Solitary infantile myofibromatosis of axis. A case report.

Lytic lesions of the cervical spine are rare and may be caused by infection or tumors. The authors report a rare case of solitary infantile myofibromatosis presenting as a lytic lesion of the second cervical vertebral body (C2) and odontoid, causing atlanto-axial instability.

Myofibromas and myofibromatosis of the oral region: A clinicopathologic analysis of 79 cases.

The clinicopathologic features of 79 myofibromas or myofibromatoses of the oral and maxillofacial region were studied. The case studies were taken from the files of the Armed Forces Institute of Pathology. The tumors affected 44 males and 33 females (gender was unknown in 2 cases). The patients' ages at diagnosis ranged from birth to 84 years, with mean and median ages of 26.6 and 22 years, respectively. Four patients had infantile myofibromatosis; 2 had extraoral bone lesions and 2 had multiple subcutaneous tumors. In descending order, tumors involved the mandible, tongue, lips, cheek or buccal area, maxilla or palate, pterygomandibular raphae, floor of mouth, and submandibular gland. One third of the tumors affected the bones of the jaws; 12 were central and 15 were cortical or periosteal. All medullary tumors occurred in patients under age 18. On gross examination, the lesions were firm, homogeneous or whorled, white-grey fibrous masses that ranged in size from 0.5 to 5.0 cm. Microscopically, all tumors demonstrated a pattern of nodules or bundles of spindle cells separated by areas of greater cellularity and crescent-shaped vascular spaces. Distinct hemangiopericytoma-like areas were present in 22 cases. Despite apparent circumscription, the tumors commonly infiltrated and entrapped adjacent muscle, nerve, or salivary tissue. Immunohistochemically, 37 of 37 and 39 of 39 tumors stained positively for alpha-smooth muscle actin and muscle-specific actin, respectively, with the former eliciting a more intense reaction. Eight of 8 tumors were weakly positive for CD68, and one case stained focally with S-100 protein. No desmin staining was present in 36 tumors examined. Diagnostic interpretations by the pathologists seeking consultation were malignant or aggressive tumors in 31 cases and other benign conditions in 26. Nine were interpreted as myofibromatosis and 13 offered no interpretation. Thirty-two patients were alive and free of tumor an average of 42 months after initial diagnosis. Four patients had one recurrence each, and 2 had lesions recur twice. Myofibromas are relatively common soft tissue tumors of the maxillofacial region, which have been misinterpreted as malignant or aggressive lesions.

Infantile myofibromatosis: a case with unusual features and review of the literature.

A three-month-old boy was admitted for a slowly progressing nodule in his right chin, first recognized at birth and recently accompanied by facial paralysis. It was found to be a soft tissue mass arising in subcutaneous tissue and extending deep into the temporal muscle, causing temporal bone erosion without infiltrating the dura. Initially interpreted as mesenchymal chondrosarcoma, combined chemotherapy (PULSE-VAC) was given. Eighteen months later an additional nodule developed in the paraspinal skin. Evaluation of both lesions showed vimentin and alpha-smooth-muscle-action positivity. As the final diagnosis was multicentric infantile myofibromatosis, the child was followed up without therapy. Thirty months later, multiple osteolytic lesions appeared on the skull and long bones of the extremities. Some lesions remained stable and some regressed during two years of follow-up.

Stretched and sheared microcatheter retained after onyx embolization of infantile myofibromatosis.

We describe a rare neurointerventional complication, namely a stretched and sheared microcatheter, extending 52 cm from its point of retention within an Onyx cast in an infant patient's neck mass, to the groin. The tumor was an unusual manifestation of infantile myofibromatosis and prior attempts at resection had proven impossible due to bleeding. Recommendations regarding microcatheter selection, diagnostic workup, and management of the ensuing complication are given.

[A case report of infantile myofibromatosis of left mandibular angle].

The clinical data of one case of infantile myofibromatosis of left mandibular angle were analyzed, and the clinicopathological characteristics, imaging diagnosis, treatment and prognosis of infantile myofibromatosis were discussed.

Combined endoscopy-assisted cranionasal approach for resection of infantile myofibromatosis of the ethmoid and anterior skull base. Case report.

The advent and widespread development of endonasal endoscopic techniques have recently expanded the frontiers of skull base surgery. The reduced invasiveness, wider and adjustable visualization of the operative field, and lack of postoperative cosmetic defects are well-known advantages of the endonasal endoscopic approaches compared with traditional surgical exposures both in adults and in children. The need to avoid disruption of facial growth centers and permanent tooth roots represents a further special consideration in favor of these endoscopic techniques in children. The authors report on a case of solitary myofibroma involving the ethmoid, mesial orbits, and anterior skull base with intracranial intradural expansion in a 17-month-old girl. The occurrence of such proliferative disease along the skull base is exceedingly rare. The tumor was successfully excised via an endoscopy-assisted cranionasal approach in which a transcranial microsurgical exposure was combined with endonasal endoscopic access to ensure a radical resection and optimize skull base reconstruction. To the authors' knowledge, the patient in this case is the youngest reported patient in the literature who has undergone treatment with this surgical strategy. The outcome in this patient underscores the feasibility and safety of endoscopic endonasal surgery even in toddlers and early childhood.

Oral myofibromatosis: an unusual cause of gingival overgrowth.

BACKGROUND: This case report describes a rare benign tumour, which presented as discrete areas of gingival hyperplasia affecting both the mandible and the maxilla. METHOD: Surgical excision of the lesions was carried out under local anaesthetic. Histopathological examination confirmed the diagnosis of oral myofibromatosis. RESULTS: The condition responded to surgical excision and appears to have limited growth potential. It affects a wide spectrum of ages and can be alarming due to rapid enlargement and ulceration, so careful diagnosis is important to avoid unnecessary aggressive treatment.

Mutations in the gene encoding capillary morphogenesis protein 2 cause juvenile hyaline fibromatosis and infantile systemic hyalinosis.

Juvenile hyaline fibromatosis (JHF) and infantile systemic hyalinosis (ISH) are autosomal recessive conditions characterized by multiple subcutaneous skin nodules, gingival hypertrophy, joint contractures, and hyaline deposition. We previously mapped the gene for JHF to chromosome 4q21. We now report the identification of 15 different mutations in the gene encoding capillary morphogenesis protein 2 (CMG2) in 17 families with JHF or ISH. CMG2 is a transmembrane protein that is induced during capillary morphogenesis and that binds laminin and collagen IV via a von Willebrand factor type A (vWA) domain. Of interest, CMG2 also functions as a cellular receptor for anthrax toxin. Preliminary genotype-phenotype analyses suggest that abrogation of binding by the vWA domain results in severe disease typical of ISH, whereas in-frame mutations affecting a novel, highly conserved cytoplasmic domain result in a milder phenotype. These data (1) demonstrate that JHF and ISH are allelic conditions and (2) implicate perturbation of basement-membrane matrix assembly as the cause of the characteristic perivascular hyaline deposition seen in these conditions.

Juvenile hyaline fibromatosis. Case report with five years' follow-up.

Juvenile hyaline fibromatosis (JHF) is a rare hereditary disorder named by Drescher et al. in 1969. As recently as 1985, only 30 cases had been reported worldwide. We report the case of a 9-year-old girl who was diagnosed with JHF at age 3 and has been closely followed since. She initially had slowly growing multiple soft tumors over her entire body as well as hypertrophic gingiva and mild bone deformities. She was originally misdiagnosed with infantile myofibromatosis at age 3. However, at age 6, because of the light and electron microscopic findings of the tumors, she was diagnosed as having JHF. Currently, at age 9, she has nodular lesions developing over her body as well as bone changes that are progressing with no evidence of regression.