Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome
Juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline. Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. They usually present with fleshy, pap...
| Main Authors: | , , , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2016-01-01
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| Series: | Indian Journal of Paediatric Dermatology |
| Subjects: | |
| Online Access: | http://www.ijpd.in/article.asp?issn=2319-7250;year=2016;volume=17;issue=1;spage=38;epage=41;aulast=Varshini |
| _version_ | 1818541205805334528 |
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| author | K Amrutha Varshini K Haritha Chirag A Desai G Raghurama Rao A Prasad Chowdary A Amareswar P Ramana Murty |
| author_facet | K Amrutha Varshini K Haritha Chirag A Desai G Raghurama Rao A Prasad Chowdary A Amareswar P Ramana Murty |
| author_sort | K Amrutha Varshini |
| collection | DOAJ |
| description | Juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline. Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. They usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhea. We report a 1-year-old girl with typical facial lesions, joint contractures and mild gingival hyperplasia without history of diarrhea and recurrent infections. Skin biopsy revealed deposition of hyaline. |
| first_indexed | 2024-12-11T22:05:34Z |
| format | Article |
| id | doaj.art-bd9db12f7c034e109786bfe6888423d7 |
| institution | Directory Open Access Journal |
| issn | 2319-7250 |
| language | English |
| last_indexed | 2024-12-11T22:05:34Z |
| publishDate | 2016-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Paediatric Dermatology |
| spelling | doaj.art-bd9db12f7c034e109786bfe6888423d72022-12-22T00:48:58ZengWolters Kluwer Medknow PublicationsIndian Journal of Paediatric Dermatology2319-72502016-01-01171384110.4103/2319-7250.173155Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndromeK Amrutha VarshiniK HarithaChirag A DesaiG Raghurama RaoA Prasad ChowdaryA AmareswarP Ramana MurtyJuvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline. Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. They usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhea. We report a 1-year-old girl with typical facial lesions, joint contractures and mild gingival hyperplasia without history of diarrhea and recurrent infections. Skin biopsy revealed deposition of hyaline.http://www.ijpd.in/article.asp?issn=2319-7250;year=2016;volume=17;issue=1;spage=38;epage=41;aulast=VarshiniCapillary morphogenesis gene 2 mutationshyaline fibromatosis syndromeinfantile systemic hyalinosisjuvenile hyaline fibromatosis |
| spellingShingle | K Amrutha Varshini K Haritha Chirag A Desai G Raghurama Rao A Prasad Chowdary A Amareswar P Ramana Murty Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome Indian Journal of Paediatric Dermatology Capillary morphogenesis gene 2 mutations hyaline fibromatosis syndrome infantile systemic hyalinosis juvenile hyaline fibromatosis |
| title | Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome |
| title_full | Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome |
| title_fullStr | Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome |
| title_full_unstemmed | Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome |
| title_short | Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome |
| title_sort | juvenile hyaline fibromatosis or infantile systemic hyalinosis hyaline fibromatosis syndrome |
| topic | Capillary morphogenesis gene 2 mutations hyaline fibromatosis syndrome infantile systemic hyalinosis juvenile hyaline fibromatosis |
| url | http://www.ijpd.in/article.asp?issn=2319-7250;year=2016;volume=17;issue=1;spage=38;epage=41;aulast=Varshini |
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