23 research outputs found
Caso para diagnĂłstico Case for diagnosis
Fibromatose hialina juvenil e hialinose sistĂŞmica infantil sĂŁo desordens autossĂ´micas recessivas, raras da infância. Ă€ histologia, há depĂłsito de material hialino na derme e subcutâneo. As caracterĂsticas clĂnicas principais sĂŁo: lesões pápulo-nodulares, hipertrofia gengival, contratura articular, lesões Ăłsseas osteolĂticas e retardo no crescimento. Mutações no mesmo gene foram identificadas nas duas condições, sugerindo que sejam espectros da mesma doença.<br>Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autossomal recessive disorders with onset in infancy or early childhood. Histological examination shows deposit of hyaline material in the dermis and subcutaneous tissue. Clinical features include papulonodular skin lesions, gingival hypertrophy, flexion contractures of joints, osteolytic bone lesions and stunted growth. Mutations in the same gene were detected in both conditions, suggesting that they may be variants of the same disorder