title: [Juvenile hyaline fibromatosis and infantile systemic hyalinosis. Case for diagnosis].
abstract: Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal 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.
authors.affiliation: Hospital das Clínicas, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil. flaviavieirabrandao@yahoo.com.br
authors.forename: Flávia Vieira
authors.initials: FV
authors.lastname: Brandão
authors.forename: Cláudia Márcia Resende
authors.initials: CM
authors.lastname: Silva
authors.forename: Bernardo
authors.initials: B
authors.lastname: Gontijo
authors.forename: Antônio Carlos Martins
authors.initials: AC
authors.lastname: Guedes
mesh_terms: D002675:Child, Preschool; D005260:Female; D005350:Fibroma / Q000150:complications / Q000473:pathology*; D005351:Fibromatosis, Gingival / Q000150:complications / Q000473:pathology*; D006801:Humans; D006818:Hyalin; D012878:Skin Neoplasms / Q000150:complications / Q000473:pathology*