Juvenile hyaline fibromatosis in siblings
Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive an...
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wolters Kluwer Medknow Publications
2019-01-01
|
| Series: | Indian Journal of Pathology and Microbiology |
| Subjects: | |
| Online Access: | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=2;spage=300;epage=302;aulast=Ravikumar |
| _version_ | 1818587910335627264 |
|---|---|
| author | Valkodai Ramanathan Ravikumar Ram Ganesh Veerappan Ramamoorthi Sivakumar Manisankar |
| author_facet | Valkodai Ramanathan Ravikumar Ram Ganesh Veerappan Ramamoorthi Sivakumar Manisankar |
| author_sort | Valkodai Ramanathan Ravikumar |
| collection | DOAJ |
| description | Background: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years. Outcome: Nodule biopsy showed extensively hyalinised dermis with PAS positivity. Message: Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions. |
| first_indexed | 2024-12-16T09:16:22Z |
| format | Article |
| id | doaj.art-1182d30270c64515ae5ec75c34b80c3c |
| institution | Directory Open Access Journal |
| issn | 0377-4929 |
| language | English |
| last_indexed | 2024-12-16T09:16:22Z |
| publishDate | 2019-01-01 |
| publisher | Wolters Kluwer Medknow Publications |
| record_format | Article |
| series | Indian Journal of Pathology and Microbiology |
| spelling | doaj.art-1182d30270c64515ae5ec75c34b80c3c2022-12-21T22:36:52ZengWolters Kluwer Medknow PublicationsIndian Journal of Pathology and Microbiology0377-49292019-01-0162230030210.4103/IJPM.IJPM_76_17Juvenile hyaline fibromatosis in siblingsValkodai Ramanathan RavikumarRam Ganesh Veerappan RamamoorthiSivakumar ManisankarBackground: Juvenile Hyaline Fibromatosis is a rare autosomal recessive connective tissue disorder. Case Characteristics: Three year old girl with multiple facial nodules, gingival hypertrophy and multiple joint contractures. Her sibling, male child also had similar findings which was progressive and he died at 2 years. Outcome: Nodule biopsy showed extensively hyalinised dermis with PAS positivity. Message: Juvenile Hyaline Fibromatosis is a differential diagnosis for children presenting with multiple nodular lesions.http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=2;spage=300;epage=302;aulast=RavikumarFacial nodulesgingival hypertrophyjoint contracturejuvenile hyaline fibromatosisjuvenile systemic hyalinosis |
| spellingShingle | Valkodai Ramanathan Ravikumar Ram Ganesh Veerappan Ramamoorthi Sivakumar Manisankar Juvenile hyaline fibromatosis in siblings Indian Journal of Pathology and Microbiology Facial nodules gingival hypertrophy joint contracture juvenile hyaline fibromatosis juvenile systemic hyalinosis |
| title | Juvenile hyaline fibromatosis in siblings |
| title_full | Juvenile hyaline fibromatosis in siblings |
| title_fullStr | Juvenile hyaline fibromatosis in siblings |
| title_full_unstemmed | Juvenile hyaline fibromatosis in siblings |
| title_short | Juvenile hyaline fibromatosis in siblings |
| title_sort | juvenile hyaline fibromatosis in siblings |
| topic | Facial nodules gingival hypertrophy joint contracture juvenile hyaline fibromatosis juvenile systemic hyalinosis |
| url | http://www.ijpmonline.org/article.asp?issn=0377-4929;year=2019;volume=62;issue=2;spage=300;epage=302;aulast=Ravikumar |
| work_keys_str_mv | AT valkodairamanathanravikumar juvenilehyalinefibromatosisinsiblings AT ramganeshveerappanramamoorthi juvenilehyalinefibromatosisinsiblings AT sivakumarmanisankar juvenilehyalinefibromatosisinsiblings |