ABSTRACT
Myofibroma is a rare benign mesenchymal tumor of uncertain histogenesis. A six-year-old boy presented with a unilateral lower eyelid mass of six weeks' duration. MRI revealed a circumscribed mass in the inferolateral orbit with bony erosion. A systemic examination was unremarkable. Excision with histopathology revealed a partially infiltrative spindle cell tumor with bland nuclear morphology expressing smooth muscle actin and muscle-specific actin, compatible with myofibroma. Solitary myofibroma is a rare childhood orbital tumor and may clinico-radiologically closely mimic a malignancy. Histopathology and immunohistochemistry can help reach a definitive diagnosis. Systemic evaluation and close follow up are crucial in such cases.
ABSTRACT
Objective@#To investigate the clinical and histological features, diagnosis and differential diagnosis of myofibroma/myofibromatosis.@*Methods@#The clinical data and pathology features of nine cases of myofibroma/myofibromatosis were collected from August 2011 to November 2016 in Affiliated Drum Tower Hospital, Nanjing University Medical School and Children′s Hospital of Nanjing Medical University. Immunohistochemistry(IHC), PDGFRB molecular analysis and ETV6-NTRK3 gene fusion were performed and relevant literature reviewed.@*Results@#There were 7 males and 2 females, with age ranging from 3 days to 18 years (mean 5 years). The tumors were located in head and neck (eight cases) and trunk (one case). Clinically, the tumors presented as freely movable nodules. Microscopically, they appeared biphasic with alternating light- and dark-staining areas. The light-staining area consisted mainly of plump myoid spindle cells with eosinophilic cytoplasm arranged in nodules, short fascicles, or whorls.The dark-staining area was composed of round or polygonal cells with slightly hyperchromatic nuclei or small spindle cells arranged around a distinct hemangiopericytoma-like vascular pattern. IHC showed the tumor cells in the light-staining area were strongly positive for vimentin and SMA, while cells in dark-staining area were strongly positive for vimentin, and weakly for SMA. Tumor cells were negative for desmin, S-100 protein, h-Caldesmon, CD34 and STAT6. Analysis of PDGFRB mutations was performed in seven cases. Two cases showed 12 exon point mutation c. 1681 c>T(p.R561C), one case showed 14 exon point mutation c. 1998C>G (p.N666K). ETV6-NTRK3 gene fusion was not detected by fluorescence in situ hybridization in four patients under three years old. All cases were followed for 6 to 68 months, with two recurrences.@*Conclusions@#Myofibroma/myofibromatosis is an uncommon benign myofibroblastic tumor of infancy and childhood. The tumor can appear biphasic, and may show PDGFRB point mutation which is of potential diagnostic value.
ABSTRACT
Abstract: Infantile myofibromatosis is a mesenchymal disorder characterized by the fibrous proliferation of the skin, bone, muscle and viscera. It is the most common fibrous tumor in childhood. We present a newborn with skin and bone disease without visceral involvement, who showed good response to vinblastine and methotrexate. Clinical features, etiology, diagnosis, and treatment are reviewed.
Subject(s)
Humans , Male , Infant, Newborn , Myofibromatosis/congenital , Vinblastine/therapeutic use , Immunohistochemistry , Methotrexate/therapeutic use , Treatment Outcome , Myofibromatosis/pathology , Myofibromatosis/drug therapy , Dermatologic Agents/therapeutic useABSTRACT
A miofibromatose infantil é uma rara doença que tem várias formas de apresentação. Habitualmente, manifesta-se com nódulos subcutâneos, que podem ou não estar associados à presença de nódulos viscerais. Deve-se estar apto a fazer o diagnóstico por meio do exame físico e de imagem, que evidenciarão o padrão das lesões para estadiar/classificar a doença. O tratamento ainda é controverso.
Infantile myofibromatosis is a rare disease with various presentations. Usually, such condition manifests itself as subcutaneous nodules, either in association or not with visceral nodules. The diagnosis should be achieved by means of physical examination and imaging studies, with emphasis on the lesions pattern to allow the staging and classification of the disease. The treatment is still controversial.
Subject(s)
Humans , Male , Infant , Congenital Abnormalities , Lumpy Skin Disease , Myofibromatosis , Scalp , Skin Abnormalities , Torso , Biopsy , Laparotomy , Magnetic Resonance Spectroscopy , Tomography, X-Ray Computed , Ultrasonography , VomitingABSTRACT
Introducción. La miofibromatosis infantil constituye una enfermedad caracterizada por la presencia (única o multicéntrica) de una neoplasia de naturaleza benigna. La etiología es desconocida. Predomina en varones menores de dos años. Se presenta clínicamente ya sea como un tumor solitario, único, que afecta piel, hueso, músculo o tejido celular subcutáneo en cabeza, cuello o tronco, con buen pronóstico; o bien en forma multicéntrica, con o sin compromiso visceral en corazón, pulmón, aparato gastrointestinal o riñón (de peor pronóstico). La confirmación requiere de una biopsia. El tratamiento puede ser conservador (control evolutivo), quirúrgico (cuando se presenta en forma solitaria) o con quimioterapia (en la forma visceral). Caso clínico. Se presenta aun paciente de 16 meses de vida con un tumor cervical en quien se confirmó el diagnóstico de miofibromatosis infantil; presenta una tumoración lateral izquierda de cuello. Se interna por dificultad respiratoria alta con estridor que requiere asistencia respiratoria mecánica. Es intervenido quirúrgicamente con resección completa de la tumoración y buena evolución posoperatoria. Conclusiones. La miofibromatosis infantil debe considerarse en el diagnóstico diferencial de las neoplasias en la infancia temprana a pesar de su baja frecuencia. El tratamiento y el pronóstico dependerán de la localización y de la forma de presentación (solitaria o multicéntrica, con o sin compromiso visceral).
Background. Infantile myofibromatosis (IM) is a disease characterized by solitary or multiple benign tumors. The etiology is unknown. IM isa benign mesenchymal disorder of early infancy and is more frequent in males. IM may present in two manners: asa solitary lesion most commonly in skin, bone, muscle, subcutaneous tissue, in head, neck and trunk, with good prognosis, or a multicentric form of IM with or without visceral involvement (heart, lung, gastrointestinal tract, kidney) with a poor prognosis. The definitive diagnosis of IM is confirmed by pathology. Treatment may be conservative (observation with close follow-up) or surgery (solitary form) or chemotherapy (visceral form). Case report. We reporta case of a 16-months-old male patient with left neck tumor diagnosed as IM. He was admitted into intensive care unit because of respiratory distress with stridor caused by tumor compression. Mechanical ventilation was required by the patient who underwent surgery to resect the tumor. The patient had a favorable postoperative evolution. Conclusions. IM must be considered in the differential diagnosis of tumors in early infancy, despite its low frequency. Treatment and prognosis depend on location, clinical form (solitary or multicentric), with or without visceral involvement.
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Objective To assess the value of using MRI to evaluate the histopathological characteristic of limb soft-tissue aggressive fibromatosis (AF). Methods The MBI findings and histopathological data of 20 patients with AF were obtained and analyzed. The difference between the different signal regions in AF were compared of signal intensity in T1-weighted images, T2-weighted images and degree of enhancement. The data were processed with paired t test. The histopathology of different signal regions was observed in 6 cases on HE stain and Masson trichromic stain of AF specimen. Results (1) AF predominantly originated from the skeletal muscles (19/20), presenting as Iobulated mass with infiltrative growth(20/20) ;(2) A few claw-shaped neo-arteries(7/7) were delineated in the periphery of the mass in the 3D DCEMRA images as well as the mild tumor staining(7/7) ; (3) Based on the MRI findings, the porenchyma of 20 AF was divided into two distinct regions of structure: region Ⅰ and region Ⅱ. Region Ⅰ presented as hypointensity on both T1-weighted and T2-weighted images and no enhancement after i. v. administration of contrast. Region Ⅱ presented as mild hyperintensity on T2-weighted images and iso- or hypointensity on T1-weighted images and marked enhancement; (4) The signal intensity in T1-weighted images, T2-weighted images and degree of enhancement was 0. 10 ± 0. 02,0. 24 ± 0. 03, and ( 5.22 ± 0.42)% in region Ⅰ , respectively; and 0.79±0.04,3.05±0.08 and(151.5±8.61)% in region Ⅱ, respectively. The differences between region Ⅰ and region Ⅱ were statistically significant of signal intensity in T1-weighted images( t = 67. 37 ), and signal intensity in T2-weighted images( t = 196. 56) and degree of enhancement(t =76. 62) (P <0. 01 ) ; (5) Histologically, AF was composed of fibroblasts, fibrecytes and bundles of collagen fiber. On Massen triehromie stain, region Ⅰ was stained blue, being proven the mature collagen fibers. Region Ⅱ was predominantly composed of fibroblasts, fibrecytes and was not stained. Conclusion The region Ⅰ and region Ⅱ are the characteristic MRI manifestations of AF, and MBI precisely reflects the histopathological and biological feature of the tumor.
ABSTRACT
La miofibromatosis infantil es una enfermedad del período neonatal o de la infancia temprana; consiste en la aparición de uno o múltiples tumores fibrosos que afectan piel, tejido celular subcutáneo, músculos, huesos y/o vísceras. Son tumores con tendencia a la involución espontánea, y su pronóstico está condicionad por la presencia o no de compromiso visceral. Se presenta el caso de un recién nacido de 48 horas de vida, con una tumoración en miembro superior derecho, sin compromiso visceral, que presentó involución espontánea en un plazo de 8 meses.
Infantile myofibromatosis is an illness of the neonatal period or early childhood. It consists of the appearance of one or more fibrous tumors which affect the skin, subcutaneous tissue, muscles, bones and/or viscera. These tumors tend to undergo spontaneousinvolution, and the prognosis is conditioned by the presence or absence of visceral liability. The case of a 48-hour newborn is described. The infant presented a tumour in the upper right member, which did not revealedvisceral liability and which resulted in spontaneous involution over an eight month span.
Subject(s)
Humans , Female , Infant, Newborn , Myofibromatosis/diagnosis , Myofibromatosis/pathology , Immunohistochemistry , Neoplasm Regression, Spontaneous , Skin/pathologyABSTRACT
La miofibromatosis es una enfermedad tumoral que afecta casi exclusivamente a lactantes y preescolares. Se caracteriza por múltiples lesiones nodulares compuestas de tejido colágeno y células fusiformes que afectan piel, huesos, tejidos blandos e incluso las vísceras; puede ser solitaria o multicéntrica. Presentamos la evolución clínica de un niño que a los dos años de edad fue llevado por primera vez a consulta por una masa cervical derecha de 4.5 x 6 cm, subcutánea, inmóvil e indolora. Fue intervenido quirúrgicamente en 13 ocasiones; en la última falleció. El caso corresponde al número once reportado con patrón familiar.
This rare entity is characterized by multiple nodular lesions largely composed of collagen-forming spindle cells and involving the subcutis, skeletal muscle, bone and viscera of newborns and infants that occurs in either a solitary or multicentric form. The clinical course of a case is presented. The patient is a 2-year-old male who was brought to our hospital because of a large cervical mass. On physical examination a firm, subcutaneous, immobile painless mass measuring 4.5x6 cm was palpated at right side of neck. After the first admission, 13 complete surgical resections were performed. This patient is the eleventh familial case in the literature. The patient died 10 years after the first surgery.
Subject(s)
Humans , Male , Child, Preschool , Child , Fibroma , Head and Neck Neoplasms , Fatal Outcome , Follow-Up Studies , Fibroma/pathology , Fibroma/surgery , Head and Neck Neoplasms/pathology , Head and Neck Neoplasms/surgeryABSTRACT
Infantile myofibromatosis is the most common of the juvenile fibromatoses and an unusual mesenchymal disorder characterized by the proliferation of tumors in the skin, muscle, bone and viscera. There are two forms of the disease: solitary and multicentric. A benign course with spontaneous regression is seen in most patients, but poor prognosis can be associated with the multicentric form, in which visceral organs may be involved. It usually presents in early childhood. We report a case of infantile myofibromatosis arising in the left sole of a female new born. Physical examination showed a firm, red colored 2x4cm sized tumor. Histological examination revealed a spindle cell tumor in the dermis with fascicles of plump spindle cells with a whorled arrangement.
Subject(s)
Female , Humans , Dermis , Fibroma , Myofibromatosis , Physical Examination , Prognosis , Skin , VisceraABSTRACT
Solitary myofibroma is a recently described, benign neoplasm of superficial soft tissue, which represents the adult counterpart of infantile myofibromatosis. In Korean literature, only one case has been reported, and we report an additional case of solitary myofibroma in a 57-year-old man. He presented with 2-month history of asymptomatic slightly elevated pale-skin-colored nodule occurring on the right side of philtrum. A histopathologic examination revealed diffuse proliferation of fibroblasts and spindle cells with a whorled arrangement and grouped fascicles. The tumor cells were positively stained for vimentin and smooth muscle actin.
Subject(s)
Adult , Humans , Middle Aged , Actins , Fibroblasts , Immunohistochemistry , Lip , Muscle, Smooth , Myofibroma , Myofibromatosis , VimentinABSTRACT
Infantile myofibromatosis is one of the most common fibrous proliferation of infancy, characterized by the development of non-tender, firm, discrete, flesh-colored to purple nodules in skin, muscle, bone, and subcutaneous tissues. Three distinct subtypes are recognized-solitary, multicentric and generalized subtype. In solitary and multicentric subtypes, the prognosis is excellent with expected spontaneous regression of nodules in 1 to 2 years. But the prognosis of generalized subtype is poor with 75% of patients dying within the first few months of life secondary to cardiopulmonary or gastrointestinal complications. We report a case of multicentric infantile myofibromatosis in a 4-year-old boy presenting with multiple, asymptomatic, fixed and protruding masses on the posterior occiput, shoulders, upper and lower back and right lateral chest wall. Over the subsequent 20 monthes, the child developed limitation of motion of back and shoulder with the repeated formation and disappearance of myofibromatosis of the skin and musculature, but without visceral involvement.
Subject(s)
Child , Child, Preschool , Humans , Male , Myofibromatosis , Prognosis , Shoulder , Skin , Subcutaneous Tissue , Thoracic WallABSTRACT
Infantile myofibromatosis is a myofibroblastic tumor of childhood which preferentially arises in the dermis, subcutis, muscle, bone, and occasionally viscera. The disorder is usually divided into two forms, solitary and multicentric type, and the clinical course and prognosis are known to be excellent except case with visceral involvement. It is very unfamiliar in neurosurgical field. The authors present an unusual case of solitary infantile myofibromatosis occurring in right temporal bone in aafour-month-old female infant who underwent surgical excision and showed on excellent clinical course without any other adjuvant treatment. The authors propose that this disease entity should be included in differential diagnosis when neurosurgeons meet infant or child whose radiological appearance is similar to finding described.
Subject(s)
Child , Female , Humans , Infant , Dermis , Diagnosis, Differential , Myofibroblasts , Myofibromatosis , Prognosis , Temporal Bone , VisceraABSTRACT
Infantile myofibromatosis is an uncornmon, benign, self-limiting, localized or generalized process, probably of hamartomatous origin, which consists to a large degree of cells having the characteristics of myofibroblasts and sometimes of pericytes. Both solitary and multicentric forms occur. Most lesions are present at birth or in early infancy, and some are familial in origin. A female newborn presented with a firm, round, red colored, 3 x 3 cm sized tumor with central necrosis on the left chest. Histological examination revealed well-circumscribed nodules consisting of short bundles of plump, spindle shaped cells displaying staining characteristics intermediate between fibroblasts and smooth muscle cells. The tumor was immunoreactive for actin but did not stain for desmin. A Follow-up examination at the age of 3 months revealed a moderate degree of spontaneous regressior of the lesion.
Subject(s)
Female , Humans , Infant, Newborn , Actins , Desmin , Fibroblasts , Follow-Up Studies , Myocytes, Smooth Muscle , Myofibroblasts , Myofibromatosis , Necrosis , Parturition , Pericytes , ThoraxABSTRACT
Infantile myofibromatosis with systemic involvement is a very rare disease and is characterized by numerous nodules composed of spindle cells of a myofibroblastic nature. There are often disseminated throughout the subcutis, muscle, skeleton and viscera. We report an autopsy case of infantile myofibromatosis in a stillborn female fetus of 32 weeks of gestation. The nodules, Imm to 2 cm, were found over the whole body and viscera. The involved viscera were the heart, tongue, esophagus, gastrointestinal tract, portal areas of the liver, spleen anc pancreas. There were also associated malformations, viz., frontal meningoencephalocele, flexion defer-mities, syndactyly, cleft palate, agenesis of corpus callosum, pachygyria, diaphragmatic hemia, renal hypoplasia, etc. Multiple basaloid follicular hamartomas of the skin were noted on the face and extremeties. There are no previous reports in the literature of infantile myofibromatosis in conjunction with the above skin lesion and congenital malformations.
Subject(s)
Infant , Male , Female , Humans , HamartomaABSTRACT
Infantile myofibromatosis is a rare neoplasm which occurs primarily in early infancy and arise in the various sites. A 4-year-old boy, who presented with painless soft scalp mass in the left temporoparietal region was diagnosed to have myofibromatosis and this case is presented with some literature reviews.
Subject(s)
Child, Preschool , Humans , Male , Myofibroblasts , Myofibromatosis , ScalpABSTRACT
We report a case of infantile myofibromatosis in a male infant with involvement of the lungs and subcutaneous tissue. We studied our case by light microscopy, immunohistochemistry and electron microscopy. The results reveal that this entity is of a myofibroblastic nature. We reviewed 165 cases including our case. We believe this is the first report in Korea of infantile myofibromatosis with pulmonary involvement.
Subject(s)
Humans , Infant, Newborn , Male , Leiomyoma/pathology , Lung Neoplasms/pathology , Microscopy, Electron/methods , Prognosis , Skin Neoplasms/pathologyABSTRACT
We report a case of infantile myofibromatosis in a male infant with involvement of the lungs and subcutaneous tissue. We studied our case by light microscopy, immunohistochemistry and electron microscopy. The results reveal that this entity is of a myofibroblastic nature. We reviewed 165 cases including our case. We believe this is the first report in Korea of infantile myofibromatosis with pulmonary involvement.