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 |
| Summary: | 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. |
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| ISSN: | 2319-7250 |