Juvenile hyaline fibromatosis
Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts....
| Main Authors: | , , , |
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| Format: | Article |
| Language: | English |
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Wolters Kluwer Medknow Publications
2011-01-01
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| Series: | Indian Journal of Dermatology |
| Subjects: | |
| Online Access: | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2011;volume=56;issue=6;spage=731;epage=733;aulast=Krishnamurthy |
| _version_ | 1817979441228283904 |
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| author | Jayashree Krishnamurthy Bibhas Saha Dalal Sunila Gubanna V Manjunath |
| author_facet | Jayashree Krishnamurthy Bibhas Saha Dalal Sunila Gubanna V Manjunath |
| author_sort | Jayashree Krishnamurthy |
| collection | DOAJ |
| description | Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules. Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background. The disease has a relentlessly progressive course, with most patients surviving only up to the 4 th decade. As of now, there is no specific treatment for this disorder. Genetic counseling is essential to explain to parents about a 25% chance of having a diseased baby in any pregnancy. With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established. |
| first_indexed | 2024-04-13T22:42:50Z |
| format | Article |
| id | doaj.art-abd6c8cff6304f64baf04c9567541bae |
| institution | Directory Open Access Journal |
| issn | 0019-5154 1998-3611 |
| language | English |
| last_indexed | 2024-04-13T22:42:50Z |
| publishDate | 2011-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Dermatology |
| spelling | doaj.art-abd6c8cff6304f64baf04c9567541bae2022-12-22T02:26:33ZengWolters Kluwer Medknow PublicationsIndian Journal of Dermatology0019-51541998-36112011-01-0156673173310.4103/0019-5154.91840Juvenile hyaline fibromatosisJayashree KrishnamurthyBibhas Saha DalalSunilaGubanna V ManjunathJuvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules. Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules showed benign spindle cells in a Periodic acid Schiff-positive myxoid background. The disease has a relentlessly progressive course, with most patients surviving only up to the 4 th decade. As of now, there is no specific treatment for this disorder. Genetic counseling is essential to explain to parents about a 25% chance of having a diseased baby in any pregnancy. With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established.http://www.e-ijd.org/article.asp?issn=0019-5154;year=2011;volume=56;issue=6;spage=731;epage=733;aulast=KrishnamurthyAutosomal recessive diseasefibrillary matrixglycosaminoglycansJuvenile hyaline fibromatosisPeriodic acid Schiff |
| spellingShingle | Jayashree Krishnamurthy Bibhas Saha Dalal Sunila Gubanna V Manjunath Juvenile hyaline fibromatosis Indian Journal of Dermatology Autosomal recessive disease fibrillary matrix glycosaminoglycans Juvenile hyaline fibromatosis Periodic acid Schiff |
| title | Juvenile hyaline fibromatosis |
| title_full | Juvenile hyaline fibromatosis |
| title_fullStr | Juvenile hyaline fibromatosis |
| title_full_unstemmed | Juvenile hyaline fibromatosis |
| title_short | Juvenile hyaline fibromatosis |
| title_sort | juvenile hyaline fibromatosis |
| topic | Autosomal recessive disease fibrillary matrix glycosaminoglycans Juvenile hyaline fibromatosis Periodic acid Schiff |
| url | http://www.e-ijd.org/article.asp?issn=0019-5154;year=2011;volume=56;issue=6;spage=731;epage=733;aulast=Krishnamurthy |
| work_keys_str_mv | AT jayashreekrishnamurthy juvenilehyalinefibromatosis AT bibhassahadalal juvenilehyalinefibromatosis AT sunila juvenilehyalinefibromatosis AT gubannavmanjunath juvenilehyalinefibromatosis |