title: Exuberant juvenile hyaline fibromatosis in two patients.
abstract: Juvenile hyaline fibromatosis and infantile systemic hyalinosis are rare autosomal recessive disorders of infancy and early childhood that are histologically characterized by deposition of hyaline material. The main clinical features are papulo-nodular skin lesions, gingival hypertrophy, joint contractures, and bone abnormalities. However, infantile systemic hyalinosis has a more severe clinical presentation, including visceral involvement and premature death. Very recently, genetic studies identified mutations in the same gene in patients with both conditions, strongly suggesting that they belong to the same disease spectrum. We report two new nonrelated patients who met the criteria for the diagnosis of juvenile hyaline fibromatosis/infantile systemic hyalinosis. Clinical, histopathologic, immunohistochemical, and ultrastructural findings are presented, as well as an extensive review of the literature. Recent information regarding pathogenesis and treatment is discussed.
authors.affiliation: Department of Dermatology, Hospital das Clínicas, University of São Paulo School of Medicine, São Paulo, Brazil.
authors.forename: Mariela Leão
authors.initials: ML
authors.lastname: Muniz
authors.forename: Alice Zoghbi Coelho
authors.initials: AZ
authors.lastname: Lobo
authors.forename: Maria Cecília da Matta Rivitti
authors.initials: MC
authors.lastname: Machado
authors.forename: Neusa Yuriko Sakai
authors.initials: NY
authors.lastname: Valente
authors.forename: Chong Ae
authors.initials: CA
authors.lastname: Kim
authors.forename: Sílvia Vanessa
authors.initials: SV
authors.lastname: Lourenço
authors.forename: Marcello Menta Simonsen
authors.initials: MM
authors.lastname: Nico
mesh_terms: D000328:Adult; D002675:Child, Preschool; D005260:Female; D005350:Fibroma / Q000473:pathology*; D006801:Humans; D006818:Hyalin; D007223:Infant; D008297:Male; D012878:Skin Neoplasms / Q000473:pathology*