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.

A Rare Case of Infantile Myofibromatosis Presenting to the Emergency Department as Undiagnosed Long Bone Fractures.

Infantile myofibromatosis is a disorder of mesenchymal tumors that usually presents within the first 2 years of life. Most patients initially present because of the presence of visible or palpable subcutaneous tumors. We report a case of a fussy 5-week-old infant who presented to an emergency department with bilateral femur fractures initially thought to be due to nonaccidental trauma or a metabolic bone disorder. She was ultimately diagnosed after admission with infantile myofibromatosis after taking an extensive family history and after further laboratory and radiologic evaluation. There are no previously published cases of undiagnosed infantile myofibromatosis presenting to the emergency department, especially with multiple long bone fractures.

Kidney transplantation in infantile myofibromatosis and fibromuscular dysplasia: a case report.

INTRODUCTION: We report what we believe to be the first case of a child affected by two rare vascular diseases complicated by kidney failure and successfully treated by kidney transplantation. CASE PRESENTATION: A 3-year-old Caucasian girl with fibromuscular dysplasia and infantile myofibromatosis presented with arterial hypertension and renal failure. She received a deceased donor kidney transplantation distal to an iliac graft. The technical peculiarities of this transplantation are described, as well as her favorable long-term outcome. CONCLUSION: Kidney transplantation may be considered in a patient with vascular diseases and a history of iliac surgery.

Congenital infantile myofibroma causing intrauterine death in a twin.

While infantile myofibromatosis is the most common mesenchymal tumour of infancy, only around 300 cases have been reported. The authors report a 33-year-old para 1 with an uncomplicated, dichorionic diamniotic twin pregnancy who was diagnosed with an intrauterine death of one twin at 36+5 weeks gestation. At caesarean section, a macerated male stillborn weighing 2.72 kg was delivered. Postmortem examination revealed a pedunculated lesion attached to the left shoulder and underlying muscle consistent with a congenital myofibroma. The cause of death was postulated to be haemorrhage from the tumour surface causing fetal anaemia.

Development of renal and iliac aneurysms in a child with generalized infantile myofibromatosis.

Infantile myofibromatosis is a rare disorder characterized by the formation of tumors in the skin, soft tissues, bone, and viscera. We report the case of a 3-week-old girl who presented with severe hypertension due to generalized infantile myofibromatosis including renal involvement. The infant was treated by chemotherapy and showed progressive regression of the tumors. However, her evolution was marked by the development of aneurismal dilations of the renal and iliac arteries as observed in fibromuscular dysplasia. We discuss the possibility of a link between these two mesenchymal disorders.

Mediastinal and pulmonary infantile myofibromatosis: an unusual surgical presentation.

A 4-week-old boy was extensively investigated for stridor and respiratory distress and was found to have a soft tissue mass superior to the left hilum and emphysema of the entire left lung. An exploratory thoracotomy was undertaken for diagnosis and possibly to improve respiratory distress. Intraoperatively, a firm plaquelike mass was identified encasing the entire hilum including left pulmonary artery and left main bronchus. It became apparent that a left pneumonectomy was needed to be performed to resect the tumor completely and achieve hemostasis. Histopathologic examination revealed infantile myofibromatosis with multiple foci within the entire lung parenchyma as well as in the hilar mass. The child is completely recurrence-free and symptom-free after 6 years of follow-up. The literature review was carried out to discuss management of this rare but benign and surgically challenging condition.

Infantile myofibromatosis: a nontraumatic cause of neonatal brachial plexus palsy.

Most injuries to the neonatal brachial plexus occur acutely at birth, and are iatrogenic in origin. However, when weakness is accompanied by atrophy, nontraumatic etiologies should be considered. The differential diagnosis of chronic congenital brachial plexopathy includes cervical bone malformations, humeral osteomyelitis, varicella, and compression from various types of infantile tumors. An illustrative male infant delivered at 37 weeks of gestation with wasted musculature of the left upper arm, ipsilateral Horner's syndrome, and a hemidiaphragm is presented. On further examination, this patient manifested an underlying cervical tumor compressing the brachial plexus. Diagnostic steps leading to the pathologic identification of a solitary cervical myofibroma included physical examination, electromyography, radiographic imaging, and open biopsy. This report emphasizes the importance of differentiating acute from chronic congenital plexus palsy and of recognizing the possibility that infection or neoplasm may underlie the latter.

Miofibromatosis infantil. Su relación con el aparato genitourinario. Presentación de un caso y revisión de la literatura / Infantile myofibromatosis. Relationship with the genitourinary tract. Case reports and bibliographic review

Objetivo: Presentar un caso de miofibromatosis infantil de localización visceral y hacer una revisión de la literatura. Método/Resultados: Niña de 11 años, blanca, ingresa por tumoración abdominal, pérdida de peso y falta de apetito. Examen físico: palidez cutáneo-mucosa, tumoración palpable flanco abdominal derecho de 8-10cm, bordes definidos, consistencia firme y no dolorosa, que pasa la línea media. Analítica sanguínea: hemoglobina 90 mg/lt, VSG 130 mm/1 hora. Rx de tórax y Survey óseo normales, Rx abdomen simple: calcificaciones intratumorales, Urografía Intravenosa (UIV): ligero desplazamiento del riñón derecho, no infiltración. Ecografía: masa sólida, ecogénica, en flanco abdominal derecho por encima y hacia el polo inferior del riñón derecho, de 11cm de diámetro. Se decide tratamiento quirúrgico por posible Neuroblastoma, en acto operatorio se observan varias tumoraciones en el meso del colon transverso, la mayor de 7cm, las que son resecadas y extirpadas. Macroscopicamente: tumoraciones de aspecto blanquecino, aparente buena delimitación, al corte consistencia firme, aspecto arremolinado y calcificaciones focales. Microscopicamente: tumoración constituida por una proliferación de células de carácter fibroblástico, con características en algunas áreas semejantes a las células musculares lisas. Diagnóstico: miofibromatosis. Conclusiones: La miofibromatosis infantil es más común entre el nacimiento y los dos años de edad, es el tumor fibroso más frecuente en la infancia, aunque puede aparecer a cualquier edad. Etiología incierta, pero algunos estudios implican a los estrógenos en su patogenia. La clínica depende de la localización y extensión de las lesiones y la edad de presentación. El pronóstico es bueno, si no hay daño visceral, pudiendo haber regresión espontánea, aunque la miofibromatosis congénita generalizada tiene alta mortalidad, sobre todo en los primeros meses de vida, debido a su naturaleza localmente destructiva, obstrucción de órganos vitales, retrazo en el crecimiento o infección. Desde el punto de vista urológico puede haber infiltración de órganos genitourinarios (riñón, cuerpo esponjoso) y asociación con anomalías urológicas. En los estudios ultraestructurales e inmunohistoquímicos el tumor está constituido por miofibroblastos, mostrando receptores de estrógenos y marcadores positivos mesenquimatosos y de músculo: vimentina y actina músculoespecífica. Se recomienda seguimiento estricto de los pacientes con miofibromatosis congénita para evitar o diagnosticar precozmente posibles complicaciones que pudieran poner en peligro la vida del paciente (Survey oseo, UIV, ecografía abdomino-pélvica, ecocardio, TAC tóraco-abdominal y biopsia). El tratamiento de elección es el quirúrgico, con exéresis amplias para evitar posibles recidivas (AU)

Objective: To present a case of infantile myofibromatosis of visceral location and a review of the literature. Method/Results: We report the case of an 11-year-old Caucasian girl hospitalized for abdominal tumorous mass, weight loss and lack of appetite. Physical examination showed: cutaneous-mucous paleness and a painless, palpable tumorous mass of 8-10cm in the right abdominal flank, of firm consistency with defined edges and extending past the midline. Blood test showed hemoglobin 90 mg/l and erythrocyte sedimentation rate of 130 mm/hour. Chest x-ray and bone study were normal, while abdominal x-ray showed intratumorous calcification, intravenous urographyc showed light displace downwards and outwards of the right kidney. Ultrasound showed a solid echogenic mass with a diameter of 11cm in the right abdominal flank, above and extending towards the lower portion of the right kidney. Surgical treatment for possible neuroblastoma was initiated, during which various tumorous growths were observed in the mesocolon, the largest measuring 7cm, which were removed. Macroscopic examination showed whitish well-defined tumorous growths of firm consistency, with focal calcifications. Microscopic examination showed a proliferation of fibroblastic type cells, with some areas having smooth muscle cell characteristics. Diagnosis was myofibromatosis. Conclusions: Infantile myofibromatosis is the most common fibrous disorder of infancy and childhood, more commonly found between birth and two years of age, may also appear later in life. Etiology is unclear, but certain studies report estrogen involvement in its pathogenesis. Clinical symptoms depend on the location and extension of the lesion and age at presentation. Spontaneous relapse may occur. Prognosis is good in the absence of visceral damage, although generalized congenital myofibromatosis with visceral damage is associated with high mortality, especially in the first months of life, due to its destructive capacity, obstruction of vital organs, growth inhibition or infection. Urologic concerns include possible infiltration of genito-urinary organs (kidney, corpus spongiosum) and its association with urologic abnormalities. Ultrastructural and immunohistochemical studies show that the tumor is composed of myofibroblasts, with estrogen receptors, displaying vimentin and smooth muscle actin immunoreactivity. Strict follow up is recommended in patients with congenital myofibromatosis to avoid or detect possible complications that may be life-threatening (Bone survey, abdominal-pelvic ultrasound, echocardiogram, chest-abdominal CT and biopsy). The treatment of choice is surgical removal, with extensive excision to avoid possible relapse (AU)

Infantile visceral myofibromatosis--a rare cause of neonatal intestinal obstruction.

Infantile myofibromatosis (IM) is a rare cause of intestinal obstruction in the newborn. A neonate with generalized IM having multifocal intestinal lesions presenting with intestinal obstruction is reported here. Unique intraoperative pictures are provided. The presentation, management, and the prognosis of IM are discussed.

A newborn with multiple fractures as first presentation of infantile myofibromatosis.

Pathological fractures occur in infancy from a variety of causes, but are a rare condition during neonatal period. We describe the case of a male newborn with a metaphyseal fracture of femur and multiple lytic lesions, diagnosed as infantile myofibromatosis.

Infantile myofibromatosis presenting with scalp dermoid cyst.

Infantile myofibromatosis is a disorder of infancy and early childhood, typically presenting as a solitary lesion or multiple widespread nodular tumors localized to skin, subcutaneous tissue, muscle, bone, viscera, or central nervous system. We present a case of infantile myofibromatosis, multicentric type, in a 4-month-old male infant who initially presented with an occipital scalp mass and other skin-colored nodular mass lesions over his face, trunk, and four limbs. He received tissue biopsy to establish a definite diagnosis. Craniotomy was also arranged for tumor removal due to dural involvement with internal extension and compression of adjacent sigmoid sinus. The patient eventually died of cardiopulmonary failure secondary to primary pulmonary hypertension at age 11 months. Before his death, he had suffered from abdominal distention and frequent vomiting, followed by aggravated respiratory distress and cyanosis. Aggressive surveillance for cardiopulmonary or gastrointestinal involvement is recommended in such cases because prognosis varies according to the involvement of vital organs.

[Unusual presentation of infantile myofibromatosis with an ulcered plaque]. / Présentation inhabituelle d'une myofibromatose cutanée infantile en plaque unique ulcérée.

INTRODUCTION: Infantile myofibromatosis is a rare fibrovascular-like, isolated or multicentric tumor, occasionally of the bone or an organ and appearing before the age of 2. We report a case of infantile myofibromatosis in a child in an atypical form with a single, ulcerated plaque and having developed after the onset of clusters of papular nodules. OBSERVATION: An infant was seen in consultation because of asymptomatic papules that had developed on the back. The histological examination of a partial biopsy revealed a histiocytofibromatus aspect and led to the diagnosis of clusters of multiple histiocytofibromatous. One year later, the papular nodules had converged, forming a large plaque with ulcerated center. The progressive extension and the absence of healing prompted surgical exeresis and the final diagnosis of myofibromatosis. DISCUSSION: Diagnosis of infantile myofibromatosis is difficult histologically and clinically and relies on a clear anatomoclinical confrontation. The clinical aspects are varied. To our knowledge, myofibromatosis with a single ulcerated plaque has never been reported in the literature before.

Infantile myofibromatosis: a most unusual cause of gastric outlet obstruction.

Non-bilious vomiting in the newborn is common. Etiologies include both surgical and medical conditions. Gastroesophageal reflux, soy or milk protein allergy, and prostaglandin-induced foveolar hyperplasia are among the medical causes. Surgical entities include gastric antral webs, pre-ampullary duodenal and pyloric atresia, and hypertrophic pyloric stenosis. We report the unique case of an 8-day-old girl who presented with gastric outlet obstruction secondary to infantile myofibromatosis.

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1.

Neurofibromatosis type 1 (NF1) is a common neurocutaneous autosomal dominant genetic disorder affecting primarily tissues derived from the embryonic neural crest. Two hallmark features of NF1 are the wide range of potentially affected tissues and the enormous phenotypic variability of disease traits even among patients from the same family. We present a boy fulfilling the diagnostic criteria for NF1 with two unusual lesions: infantile myofibromatosis and a verrucous epidermal nevus. To our knowledge this association has never been described before.

Multifocal infantile myofibromatosis and generalized fibromuscular dysplasia in a child: evidence for a common pathologic process?

Infantile myofibromatosis (IM) is a condition characterized by the formation of spindle cell tumors of skin, soft tissue, and viscera. Although small vessel involvement by the process is a frequently identified and indeed diagnostically useful histological finding, involvement of large vessels is not widely reported. Fibromuscular dysplasia (FMD) is a noninflammatory arteriopathy characterized by intimal, medial, and/or adventitial fibroplasias leading to luminal compromise and aneurysm formation. Although venous disease has been reported, involvement of arterioles and viscera has not been identified. We report a patient in whom IM was diagnosed, on the basis of multiple soft tissue tumors present from birth, who subsequently developed generalized and ultimately fatal FMD. These two conditions exhibit overlapping pathologic features, including pronounced intimal fibroplasia. Their occurrence in a single individual may provide insights into the pathogenesis of both conditions, suggesting that they represent part of the same spectrum of vascular myofibroblastic proliferations.

Infantile myofibromatosis of the central nervous system.

BACKGROUND: Infantile myofibromatosis is the most common fibrous disorder of infancy and childhood. It may occur in two distinct forms: multicentric and solitary. In both cases involvement of the central nervous system (CNS) is unusual: brain myofibromas are usually intracranial in proximity of the dura mater, with infiltration of the calvarial bones and secondary brain compression. Spine myofibromas are exceptional and most of the cases reported in the literature represent secondary locations of visceral lesions. The natural history of myofibromas of the CNS in infantile myofibromatosis is characterized by a period of rapid growth, subsequent stabilization, and spontaneous regression in many cases. On these grounds surgical treatment is reserved for lesions that compress the brain or spinal cord and show an obvious progression. Small lesions or tumor residuals in asymptomatic children without visceral involvement should be closely observed as first choice. CASE REPORT: We report the case of a 10-month-old child with a solitary intramedullary myofibroma, extended from C7 to the conus. The patient underwent partial surgical removal of this lesion. Control MRI has shown the spontaneous slow reduction of the tumor residual and a progressive improvement of preoperative neurological conditions has been observed. To our knowledge this is the first case in which a solitary myofibroma was localized within the spinal cord.