Exuberant Juvenile Hyaline Fibromatosis in Two Patients
Identifieur interne : 007C68 ( Main/Exploration ); précédent : 007C67; suivant : 007C69Exuberant Juvenile Hyaline Fibromatosis in Two Patients
Auteurs : Mariela Leão Muniz [Brésil] ; Alice Zoghbi Coelho Lobo [Brésil] ; Maria Cecília Da Matta Rivitti Machado [Brésil] ; Neusa Yuriko Sakai Valente [Brésil] ; Chong Ae Kim [Brésil] ; Sílvia Vanessa Lourenço [Brésil] ; Marcello Menta Simonsen Nico [Brésil]Source :
- Pediatric Dermatology [ 0736-8046 ] ; 2006-09.
Abstract
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.
Url:
DOI: 10.1111/j.1525-1470.2006.00283.x
Affiliations:
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University of São Paulo School of Medicine</wicri:orgArea></affiliation></author><author><name sortKey="Valente, Neusa Yuriko Sakai" sort="Valente, Neusa Yuriko Sakai" uniqKey="Valente N" first="Neusa Yuriko Sakai" last="Valente">Neusa Yuriko Sakai Valente</name><affiliation wicri:level="3"><country>Brésil</country><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São Paulo</region></placeName><wicri:orgArea>Department of Dermatology, Hospital das Clínicas, University of São Paulo School of Medicine</wicri:orgArea></affiliation></author><author><name sortKey="Kim, Chong Ae" sort="Kim, Chong Ae" uniqKey="Kim C" first="Chong Ae" last="Kim">Chong Ae Kim</name><affiliation wicri:level="4"><country xml:lang="fr">Brésil</country><wicri:regionArea>Clinical Genetics, Department of Pediatrics, Instituto da Criança, University of São Paulo, São Paulo</wicri:regionArea><placeName><settlement type="city">São Paulo</settlement><region type="state">État de São 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Paulo</region></placeName><wicri:orgArea>Department of Dermatology, Hospital das Clínicas, University of São Paulo School of Medicine</wicri:orgArea></affiliation></author></analytic><monogr></monogr><series><title level="j" type="main">Pediatric Dermatology</title><title level="j" type="alt">PEDIATRIC DERMATOLOGY</title><idno type="ISSN">0736-8046</idno><idno type="eISSN">1525-1470</idno><imprint><biblScope unit="vol">23</biblScope><biblScope unit="issue">5</biblScope><biblScope unit="page" from="458">458</biblScope><biblScope unit="page" to="464">464</biblScope><biblScope unit="page-count">7</biblScope><publisher>Blackwell Publishing Ltd</publisher><pubPlace>Oxford, UK</pubPlace><date type="published" when="2006-09">2006-09</date></imprint><idno type="ISSN">0736-8046</idno></series></biblStruct></sourceDesc><seriesStmt><idno type="ISSN">0736-8046</idno></seriesStmt></fileDesc><profileDesc><textClass></textClass></profileDesc></teiHeader><front><div type="abstract">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.</div></front></TEI><affiliations><list><country><li>Brésil</li></country><region><li>État de São Paulo</li></region><settlement><li>São Paulo</li></settlement><orgName><li>Université de São Paulo</li></orgName></list><tree><country name="Brésil"><region name="État de São Paulo"><name sortKey="Muniz, Mariela Leao" sort="Muniz, Mariela Leao" uniqKey="Muniz M" first="Mariela Leão" last="Muniz">Mariela Leão Muniz</name></region><name sortKey="Kim, Chong Ae" sort="Kim, Chong Ae" uniqKey="Kim C" first="Chong Ae" last="Kim">Chong Ae Kim</name><name sortKey="Lobo, Alice Zoghbi Coelho" sort="Lobo, Alice Zoghbi Coelho" uniqKey="Lobo A" first="Alice Zoghbi Coelho" last="Lobo">Alice Zoghbi Coelho Lobo</name><name sortKey="Lourenco, Silvia Vanessa" sort="Lourenco, Silvia Vanessa" uniqKey="Lourenco S" first="Sílvia Vanessa" last="Lourenço">Sílvia Vanessa Lourenço</name><name sortKey="Machado, Maria Cecilia Da Matta Rivitti" sort="Machado, Maria Cecilia Da Matta Rivitti" uniqKey="Machado M" first="Maria Cecília Da Matta Rivitti" last="Machado">Maria Cecília Da Matta Rivitti Machado</name><name sortKey="Nico, Marcello Menta Simonsen" sort="Nico, Marcello Menta Simonsen" uniqKey="Nico M" first="Marcello Menta Simonsen" last="Nico">Marcello Menta Simonsen Nico</name><name sortKey="Valente, Neusa Yuriko Sakai" sort="Valente, Neusa Yuriko Sakai" uniqKey="Valente N" first="Neusa Yuriko Sakai" last="Valente">Neusa Yuriko Sakai Valente</name></country></tree></affiliations></record>Pour manipuler ce document sous Unix (Dilib)
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