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Head and Neck Pathology Sep 2011Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent... (Review)
Review
Isolated orbital infantile myofibroma are rare tumors in the head and neck. The mass-like clinical presentation and variable histologic features result in frequent misdiagnosis and potentially inappropriate clinical management. There are only a few reported cases in the English literature. Twenty-four patients with orbital infantile myofibroma or myofibromatosis were compiled from the English literature (Medline 1960-2011) and integrated with this case report. The patients included 14 males and 10 females, aged newborn to 10 years (mean, 34.8 months), who presented with a painless mass in the infra- or supraorbital regions, usually increasing in size andassociated with exophthalmos (n = 5). Females were on average older than their male counterparts (38.9 vs. 31.9 months, respectively; P = 0.71). The tumors were twice as frequent on the left (n = 16) than right (n = 8). Patients experienced symptoms for an average of 2.7 months before clinical presentation. The tumors involved the bone (n = 17) or the soft tissues (n = 7) of the orbit, with extension into the nasal or oral cavity (n = 3). The mean size was 3.0 cm, with a statistically significant difference between males and females (mean: 3.9 vs. 1.82; P = 0.0047), but without any differences based on age at presentation (P = 0.25), duration of symptoms (P = 0.66), or bone or soft tissue involvement (P = 0.51). Grossly, all tumors were well-circumscribed, firm to rubbery, homogenous, and white-grey. Histologically, the tumors were biphasic, showing whorled and nodular areas of fusiform cells with extracellular collagen, mixed with a population of small, primitive-appearing, darkly staining cells. Necrosis was not present, but mitoses could be seen. Tumors with immunohistochemistry performed showed strong and diffuse smooth muscle actin and vimentin immunoreactivity, but were negative with muscle specific actin, desmin, MYOD1, myogenin, S100 protein, GFAP, keratin, CD31, 34, Factor VIIIR-Ag, and CD45RB. The principle histologic differential diagnosis includes juvenile hyaline fibromatosis, fibrous hamartoma of infancy, fibromatosis coli, leiomyoma, infantile hemangiopericytoma, infantile fibrosarcoma, Ewing sarcoma/primitive neuroectodermal tumor, and lymphoma. All patients were managed with surgery. Recurrences developed in two patients at 4 and 6 months, respectively. Follow-up data was available on all but two patients (n = 22). These patients were either alive without evidence of disease (n = 18), alive but with disease (n = 3), or had died unrelated to this disease (i.e., neuroblastoma, n = 1). Orbital infantile myofibroma is a rare tumor, presenting in infancy as an enlarging mass of the orbit, with characteristic histomorphologic and immunophenotypic features. Orbital disease is usually isolated rather than part of systemic disease, and shows an excellent long-term prognosis, making appropriate separation from other conditions important.
Topics: Child; Child, Preschool; Female; Head and Neck Neoplasms; Humans; Immunohistochemistry; Infant; Infant, Newborn; Male; Myofibroma; Orbital Neoplasms; Soft Tissue Neoplasms
PubMed: 21512784
DOI: 10.1007/s12105-011-0260-4 -
BMJ Case Reports Dec 2011While 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...
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.
Topics: Adult; Cesarean Section; Female; Fetal Death; Fetal Diseases; Humans; Male; Muscle Neoplasms; Myofibromatosis; Pregnancy; Pregnancy Complications, Neoplastic; Pregnancy, Twin; Stillbirth
PubMed: 22674951
DOI: 10.1136/bcr.09.2011.4851 -
Clinical Orthopaedics and Related... Feb 2011
Topics: Biomarkers, Tumor; Combined Modality Therapy; Diagnosis, Differential; Disease-Free Survival; Female; Fibrosarcoma; Hemangioma; Humans; Infant; Limb Salvage; Microdissection; Myofibromatosis; Rhabdomyosarcoma; Shoulder; Soft Tissue Neoplasms; Vascular Malformations
PubMed: 21128034
DOI: 10.1007/s11999-010-1710-0 -
Ultrasound in Obstetrics & Gynecology :... Apr 2009
Topics: Diseases in Twins; Female; Fetal Diseases; Head and Neck Neoplasms; Humans; Myofibromatosis; Pregnancy; Twins, Monozygotic; Ultrasonography, Prenatal
PubMed: 19306469
DOI: 10.1002/uog.6347 -
Cases Journal Dec 2008Infantile myofibromatosis is a rare mesenchymal disorder of infancy that can extensively involve the viscera including the gastrointestinal tract.
BACKGROUND
Infantile myofibromatosis is a rare mesenchymal disorder of infancy that can extensively involve the viscera including the gastrointestinal tract.
CASE PRESENTATION
In this report, an exceptional case of infantile myofibromatosis is described in which rectal prolapse and sigmoid colo-colonic intussusception were the initial presentations of colorectal involvement in a 2-month-old premature female infant.
CONCLUSION
To the best of our knowledge, this is the first case reporting rectal prolapse and the second case documenting intussusception secondary to gastrointestinal involvement by infantile myofibromatosis.
PubMed: 19077316
DOI: 10.1186/1757-1626-1-397 -
Hand (New York, N.Y.) Mar 2009Non-malignant fibrosing tumors in the pediatric hand or juvenile fibromatoses are clinically challenging because of their relatively infrequent occurrence and because of...
Non-malignant fibrosing tumors in the pediatric hand or juvenile fibromatoses are clinically challenging because of their relatively infrequent occurrence and because of the variety of names associated with these diseases. We conducted a review of a personal case series of pediatric patients with these tumors and discuss here the more common histologic types and clinical characteristics of the disease spectrum in the context of the available published literature. All histologic samples were reviewed by a single pathologist. Infantile myofibromatosis, fibrous hamartoma of infancy, juvenile aponeurotic fibromatosis, palmar fibromatosis (Dupuytren's type), infantile digital fibromatosis (Reye's tumor), fibroma of the tendon sheath, and melorheostosis represent the encountered lesions.
PubMed: 19048350
DOI: 10.1007/s11552-008-9148-5 -
Actas Dermo-sifiliograficas May 2008
Topics: Arm; Female; Humans; Infant, Newborn; Myofibromatosis; Skin Neoplasms
PubMed: 18394408
DOI: 10.1016/s0001-7310(08)74681-7 -
Journal of Pediatric Surgery Jan 2008Infantile myofibromatosis (IM) is a rare soft tissue tumor of infancy and childhood. We report the case of a newborn girl with an abdominal tumor discovered at 32 weeks...
Infantile myofibromatosis (IM) is a rare soft tissue tumor of infancy and childhood. We report the case of a newborn girl with an abdominal tumor discovered at 32 weeks of gestation by fetal ultrasound. She underwent a laparotomy for an unexplained abdominal mass 20 days after birth. The tumor originated from the spleen and was removed by splenectomy. There were no other abnormal findings on diagnostic modalities. Based on the histological examinations, the tumor was diagnosed as an IM. Although extremely rare during the neonatal period, solitary type IM should be considered as a differential diagnosis of the splenic tumor.
Topics: Biopsy, Needle; Female; Follow-Up Studies; Humans; Immunohistochemistry; Infant, Newborn; Laparotomy; Magnetic Resonance Imaging; Myofibromatosis; Risk Assessment; Splenectomy; Splenic Neoplasms; Term Birth; Tomography, X-Ray Computed; Treatment Outcome; Ultrasonography, Doppler
PubMed: 18206487
DOI: 10.1016/j.jpedsurg.2007.08.060 -
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 -
Pediatric Radiology Apr 2005Infantile myofibromatosis is the most common fibrous tumor of infancy. It can involve the skin, muscle, bone, and viscera. This uncommon entity is subdivided into...
BACKGROUND
Infantile myofibromatosis is the most common fibrous tumor of infancy. It can involve the skin, muscle, bone, and viscera. This uncommon entity is subdivided into solitary and multicentric forms, with or without visceral involvement.
OBJECTIVE
To describe the imaging characteristics of extracranial myofibromatosis.
MATERIALS AND METHODS
Six infants, aged 1 day-1 week, were evaluated by imaging. All six patients had evaluation of one of the masses by US; four patients had CT evaluation of at least one of the masses; and five patients had evaluation by MRI.
RESULTS
The US appearance of the myofibromas included a mass with a purely anechoic center with a thick wall, a mass with a partially anechoic center, and a mass without anechoic components. On enhanced CT, the masses had lower or similar attenuation compared to adjacent muscle, with some masses exhibiting peripheral enhancement. The MR appearance consisted of low signal on T1-weighted imaging. On T2-weighted imaging, two had low signal of the center and the other three had high signal. All masses showed peripheral enhancement after gadolinium administration.
CONCLUSIONS
Myofibromas have variable appearance on US, with a mass with an anechoic center being the most common feature. On CT, the mass can exhibit peripheral enhancement, calcifications, and erosion of adjacent bone. The MR appearance consisted of low signal on T1-weighted imaging and high or low signal of the center on T2-weighted imaging. All masses showed peripheral enhancement after gadolinium administration.
Topics: Back; Contrast Media; Diagnostic Imaging; Female; Gadolinium; Humans; Image Enhancement; Infant, Newborn; Magnetic Resonance Imaging; Male; Muscle Neoplasms; Myofibromatosis; Neck Muscles; Psoas Muscles; Radiographic Image Enhancement; Shoulder; Soft Tissue Neoplasms; Thigh; Thoracic Wall; Tomography, X-Ray Computed; Ultrasonography, Doppler, Color
PubMed: 15558270
DOI: 10.1007/s00247-004-1357-7