Infantile Myofibromatosis of the Femoral Neck: A Case Report.

CASE: A 15-month-old boy who was being followed for developmental dysplasia of the hip because of breech presentation was discovered to have a solitary infantile myofibroma in the left femoral neck. The patient was avoiding weight-bearing on the affected extremity; thus, stabilization of the femoral neck was performed using a proximal femur locking plate. Postoperatively, he achieved all gross motor developmental milestones. CONCLUSION: This report is the first to describe a solitary infantile myofibroma in the femoral neck and demonstrates the utility of operative stabilization of these lesions.

Isolated infantile myofibroma of the calvarium: Report of a case with a literature review.

OBJECTIVE: Infantile myofibromatosis is a rare entity of childhood characterized by benign myofibroblastic tumors in the soft tissues, the bones, and occasionally the viscera. Solitary skeletal lesions are relatively uncommon. Calvarial involvement should be distinguished from more aggressive tumors for appropriate treatment. METHODS: We reviewed solitary infantile myofibroma of the calvarium and discussed the relevant computed tomography and magnetic resonance imaging findings along with differential diagnosis. A case study of the frontal bone in a 5-month-old girl was also presented. RESULTS: Fourteen cases were reviewed, including the current case. Of the 13 cases with known sex, eight were male and five female. The mean age was 3.03 with an age range of 0.41-9 years. Nine of the 14 tumors were in the frontal bone. The lesions were intradiploic with tabula interna and/or externa of the calvaria involvement. The mean largest diameter was 22.3 mm. Upon computed tomography, all the lesions were expansile and lytic, and hypoattenuated, isoattenuated or occasionally hyperatenuated. Calcification was not seen. On magnetic resonance imaging, most neoplasms were hypointense on T1-weighted and T2-weighted images. Neoplasms showed hypointense signal on diffusion-weighted imaging and hyperintense on apparent diffusion coefficient, without restricted diffusion in three cases. All lesions were intensely enhanced after gadolinium administration. Treatment was total surgical resection and recurrence was not observed during follow-up. CONCLUSIONS: Infantile myofibromas are rare, typically intradiploic expansile lytic lesions with tabula interna and/or externa involvement. Distinctive imaging features include the presence of hipointense signals on T2-weighted magnetic resonance images without restricted diffusion on diffusion-weighted imaging. A slow-growing, firm, painless, and nontender mass with supportive imaging findings should raise suspicion of the disease.

Generalized Infantile Myofibromatosis with Extensive Small Bowel Involvement in a Neonate.

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.

Giant intracranial infantile myofibromatosis of the skull base: report of two cases.

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.

Massive infantile myofibromatosis of the upper lip causing airway distress in a newborn.

Infantile myofibromatosis is a rare condition characterized by benign spindle cell tumors most commonly involving the head, neck, and chest. An infant female with a prenatal diagnosis of a large facial mass was delivered via Cesarean at 34 weeks. Sparse prenatal care was received. Following delivery, the neonate was found to have an 8 cm ulcerative mass involving the upper lip and philtrum. Respiratory distress developed, and mask ventilation was difficult secondary to the size of the mass. The patient was successfully intubated after numerous attempts and then transferred to the children's hospital. Additional imaging demonstrated similar masses within bilateral iliopsoas and gluteal muscles, and her right gastrocnemius. A biopsy confirmed infantile myofibromatosis. At two weeks of life, she underwent resection with bilateral myocutaneous advancement flaps and successful extubation. She received adjuvant vinblastine and methotrexate for her pelvic and extremity disease with excellent response. We present the first case of airway distress secondary to myocutaneous myofibromatosis.

Infantile Myofibromatosis: 32 Patients and Review of Literature.

BACKGROUND: Infantile myofibromatiosis (IM) is a rare benign tumor in the infants, but it has a bad prognosis if IM erncroaches on the viscera. Multiple tissues can be invaded by IM, including the subcutaneous tissue, the muscle of the neck, back, and head, but seldom in the bones and the viscera. The histopathologic and immunohistochemical examinations are necessary in daigonosis of IM as it might be misdiagnosed as the malignant tumor. MATERIALS AND METHOD: Thirty-two consecutive patients with IM in our hospital (2003-2013) were enrolled and the clinical date were analyzed to understand IM better, such as the feature of clinical manifestations, pathology, imaging tests, and treatment. RESULTS: All of them underwent excision operations, 4 of them with invasion in the bones, 2 with invasion in the craniums, and the rest in the ulna and the humerus. The immunohistiochemical analysis shown that the tumor cells were positive to vimentin and smooth muscle actin while negative to the S100 protein and desmin. Twenty-five patients were in follow-up, 2 cases recurred. CONCLUSIONS: IM is a benign tumor, but IM with the viscera involvement has a bad prognosis. The strategy of waiting and observation for IM without visceral involvement could be selected.

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.

Ruptured Infantile Myofibroma of the Head Presenting in a Neonate: Case Report and Review of the Literature.

BACKGROUND: Infantile myofibroma/myofibromatosis (IM/M) is a myofibroblastic proliferative disorder often seen in infants and children. IM/M can result in congenital tumors of the head and neck and may occasionally present to the neurosurgeon. CASE DESCRIPTION: We report a case of a solitary ruptured myofibroma of the head in a newborn patient. The lesion was initially suggestive of encephalocele. We describe the presentation and management of this patient, including relevant imaging, histopathologic evaluation, and surgical technique. We subsequently review the literature of IM/M of the head and neck, highlighting the 3 forms of the condition, each requiring a distinct management strategy. CONCLUSIONS: Although this tumor rarely presents to the neurosurgeon, it may do so in the process of ruling out other more dangerous conditions. It is therefore important to consider this diagnosis in masses that occur in the head and neck of newborns.

Intracranial Infantile Myofibromatosis Mimicking Malignant Brain Tumor: A Case Report and Literature Review.

BACKGROUND: Myofibroma is a fibrous tumor of infancy that sometimes affects a single patient in a multiple fashion (infantile myofibromatosis). Its intracranial involvement is extremely rare, and its clinical picture has been poorly characterized. Here we report an interesting case of myofibromatosis with an intracranial lesion that behaved like an aggressive tumor and yet demonstrated very benign pathology. CASE DESCRIPTION: A 36-year-old man had never been diagnosed with infantile myofibromatosis despite his lifelong history of multiple tumors of various diagnoses. He presented with simple partial seizure and progressive right finger paresis. A series of brain magnetic resonance imaging scans revealed a rapidly growing lesion at his left frontal convexity, which corresponded to a high uptake area on a (18)F-fluorodeoxyglucose-positron emission tomography scan, highly suspicious of malignancy. He underwent complete tumor resection and his symptoms quickly resolved postoperatively. The pathological diagnosis was myofibroma with a MIB-1 labeling index of 1%-2%. A retrospective review of his previous tumors demonstrated the same pathology, which led to the diagnosis of myofibromatosis. Follow-up magnetic resonance imaging illustrated stabilization or regression of other preexisting lesions as well as formation of a new intracranial lesion. CONCLUSIONS: The discrepancy between rapid tumor growth associated with increased uptake on metabolic imaging and benign pathologic findings with a low proliferative index is noteworthy and should be recognized in the management of an intracranial lesion in a patient with infantile myofibromatosis. Given de novo formation of a lesion in this adult patient, long-term follow-up is essential in this disease.

[Atypical presentation of infantile digital fibromatosis]. / Fibromatosis digital infantil de presentación atípica.

Infantile digital fibromatosis is a rare benign fibro/myofibroblastic proliferation that almost only occurs on the fingers and toes. It is characterized by bright, round, intracytoplasmic, eosinophilic inclusions. We present a case of infantile digital fibromatosis in a 6-years-old child.

Prenatal diagnosis of infantile myofibromatosis of the lung: a case report and review of the literature.

We present a case of infantile myofibromatosis of the lung detected at 32 weeks' gestation. The fetus was monitored with weekly ultrasound examinations measuring the mass size and amniotic fluid index. On day 2 after delivery, due to respiratory distress, an exploratory thoracotomy was undertaken and the mass was resected.

Congenital solitary infantile myofibromatosis involving the spinal cord.

Infantile myofibromatosis, a rare mesenchymal disorder that develops in early childhood, is classified by the number of lesions that occur: solitary or multicentric. Involvement of the CNS is unusual in either type. Infantile myofibromatosis in the spine is exceptional, and most published cases represent a secondary invasion. Here, the authors report on an 8-month-old girl presenting with weakness below the ankle and an intraspinal mass extending from T-6 to the conus. The patient underwent only partial surgical removal of the lesion, and the pathology was confirmed as infantile myofibromatosis. After the operation, weakness in the lower extremities gradually improved; however, she could not walk at the time of the final follow-up. On follow-up MRI performed 19 months after the operation, the residual lesion remained unchanged with decreased enhancement.

Risk-adapted therapy for infantile myofibromatosis in children.

BACKGROUND: Infantile myofibromatosis is characterized by proliferation of benign fibrous tumors arising in skin, subcutaneous tissue, muscle, or bone. Solitary and multicentric forms are described. Few reports are available in the pediatric population. PROCEDURE: To improve the knowledge of this rare tumor in infants, the authors present a series of all cases of infantile myofibromatosis treated in their institution over a 9-year period in order to propose treatment guidelines based on their experience and a review of the literature. RESULTS: The authors report a series of 9 cases, 8 solitary forms and 1 multicentric form with visceral involvement treated from 2000 to 2009. Median age was 10 months (range: 2 days-14 years). Six patients with solitary forms underwent primary surgical resection leading to remission. Only biopsy was performed in 1 case, followed by tumor regression with no recurrence. The last patient with a solitary form was treated by chemotherapy and then surgery allowing remission. The patient with a multicentric form presented complete regression of tumors after 1 year of vinblastine and methotrexate combination chemotherapy. CONCLUSIONS: Infantile myofibromatosis is a rare soft tissue tumor mainly concerning infants. Surgery is the treatment of choice for solitary forms when excision is possible. Close follow-up may be proposed in the case of inoperable sites. In multicentric life-threatening forms, chemotherapy promotes tumor regression and the vinblastine and methotrexate combination is effective with few long-term adverse effects.

Mesenteric myofibroblastic tumor: NSAID therapy after incomplete resection.

Myofibroblastic tumors are inflammatory tumors that arise in viscera and soft tissue; their etiopathology is poorly understood. They are capable of infiltration of adjacent organs, local recurrence after surgical resection, and even of distant metastasis. These characteristics result in persistent debate as to the nature of these lesions - whether they are inflammatory or neoplastic, benign or malignant lesions? Diagnosis is almost always made based on histopathological findings. Traditional management is complete surgical excision, but this may be difficult or impossible when the lesion develops in proximity to vital structures. We report the case of a 59-year-old man who was treated in our institution for mesenteric myofibroblastic tumor. Complete resection was not possible due to local infiltration of the mesentery. Recurrence was noted 3 months after surgery; treatment with steroidal and then non-steroidal anti-inflammatory medications (NSAIDs) resulted in clinical and radiologic regression of the tumor.

Transmanubrial transclavicular approach in tumors of the brachial plexus.

The standard transclavicular approach allows only limited and narrow exposure if the cervical thoracic region for the resection of tumors of the brachial plexus is involved. We report 2 cases of retroclavicular tumors of the brachial plexus. We performed a complete resection in both cases using the transmanubrial transclavicular approach. This approach consists of retracting an osteomuscular flap that involves the medial portion of the clavicle, part of the sternal manubrium, the sternoclavicular joint, and the sternocleidomastoid muscle. We describe and discuss this approach, which provides access to the entire brachial plexus and the major vessels, thereby affording excellent control of the vessels; it is the approach of choice for tumors in this location.