Assuntos
Humanos , Masculino , Lactente , Neoplasias Cutâneas/congênito , Neoplasias Faciais/congênito , Miofibromatose/congênito , Neoplasias Cutâneas/diagnóstico , Neoplasias Cutâneas/patologia , Neoplasias Faciais/diagnóstico , Neoplasias Faciais/patologia , Miofibromatose/diagnóstico , Miofibromatose/patologiaAssuntos
Humanos , Feminino , Recém-Nascido , Hemangiopericitoma , Miofibromatose/diagnóstico , Neoplasias CutâneasRESUMO
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.
Assuntos
Doenças do Colo , Doenças Urogenitais Femininas , Miofibromatose , Criança , Doenças do Colo/diagnóstico , Doenças do Colo/cirurgia , Feminino , Doenças Urogenitais Femininas/diagnóstico , Doenças Urogenitais Femininas/cirurgia , Humanos , Miofibromatose/diagnóstico , Miofibromatose/cirurgiaRESUMO
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.
Assuntos
Humanos , Feminino , Recém-Nascido , Miofibromatose/diagnóstico , Miofibromatose/patologia , Imuno-Histoquímica , Regressão Neoplásica Espontânea , Pele/patologiaRESUMO
An infant with self-healing, multifocal cutaneous infantile myofibromatosis with leg-length discrepancy as a sequela is reported. This condition should be suspected in infants with one or more firm or hard nodules in the skin, subcutaneous tissue, bone, muscle, or viscera. The histopathologic picture is diagnostic. Treatment and prognosis depend on the extension and location of the tumors.
Assuntos
Miofibromatose/complicações , Neoplasias Cutâneas/complicações , Diagnóstico Diferencial , Feminino , Humanos , Lactente , Desigualdade de Membros Inferiores , Miofibromatose/diagnóstico , Sarcoma/diagnóstico , Neoplasias Cutâneas/diagnósticoRESUMO
Os autores apresentam um caso de miofibromatose congênita, cursando com tumoração em região escapular direita e comprometimento ósseo. O diagnóstico foi sugerido por exames de imagem: radiografia do esqueleto e ressonância nuclear magnética, e confirmado pelo estudo histopatológico da lesão. Por ser uma doença rara os autores fazem uma revisão bibliográfica, descrevendo aspectos de apresentação e evolução clínica da doença, avaliação diagnóstica, e abordagem terapêutica
Assuntos
Humanos , Masculino , Lactente , Anormalidades Congênitas , Miofibromatose/diagnóstico , Miofibromatose/etiologia , Miofibromatose/terapiaRESUMO
A patient with Turner's syndrome was found to have generalized infantile myofibromatosis with visceral involvement at birth. The infant was treated with interferon-alpha because of the size of the lesions. Two months after treatment, the lesions appeared to have decreased in size and showed evidence of maturation with decreased apoptosis on histologic examination. Interferon-alpha treatment might induce regression of myofibromatosis.