RESUMO
Fibromatosis is a group of disorders characterized by infiltrating fibroblastic proliferation. Among them Juvenile hyaline fibromatosis (J.H.F) is a rare, progressive, crippling autosomal recessive disorder diagnosed based on the characteristic clinicopathological findings of generalized cutaneous nodular lesions, gingival hypertrophy, flexion contractures of large joints with osteolytic lesions, and proliferating fibroblasts set within a hyalinized stroma. This disorder commonly manifests in childhood with family history of consanguinity and in siblings. A case of seven year old boy born to consanguinous parents is reported who presented with multiple subcutaneous nodules and gingival hypertrophy. Histopathological examination revealed proliferating fibroblasts embedded in an abundant homogeneous eosinophilic hyalinized matrix. The matrix showed PAS stain positivity, supporting the pathogenesis of this disorder as an inborn error of glycosaminoglycans metabolism. The differential diagnosis is discussed and the literature reviewed.
Assuntos
Criança , Diagnóstico Diferencial , Fibroma/genética , Fibromatose Gengival/genética , Genes Recessivos , Humanos , Hialina/metabolismo , Masculino , Neoplasias Cutâneas/genéticaRESUMO
Lipoma primary to uterus is a rare entity among uterine fatty tumors. These create preoperative diagnostic confusion and their histogenesis is still unclear. Only a few cases of pure lipoma of uterus have been reported in the last few decades. A case of isolated pure lipoma primary to uterus diagnosed postoperatively by pathological examination is presented.