Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease
| Autor: | PRARTHANA SAMEER KALGAONKAR, MINAL WADE, CHARUSHEELA WARKE, MEENA MAKHECHA, MANISHA KHARE |
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| Jazyk: | angličtina |
| Rok vydání: | 2017 |
| Předmět: | |
| Zdroj: | Journal of Clinical and Diagnostic Research, Vol 11, Iss 7, Pp SD04-SD06 (2017) |
| Druh dokumentu: | article |
| ISSN: | 2249-782X 0973-709X |
| DOI: | 10.7860/JCDR/2017/25280.10293 |
| Popis: | Systemic hyalinosis is inherited as an autosomal recessive disease. It may also be referred to as Fibromatosis hyalinica multiplex juvenilis and Murray-Puretic-Drescher syndrome. A four and a half-year-old female child presented with multiple soft tissue swellings involving the nose, orbital ridges, ears, bony prominences of the ulna and tibia and the parietal and occipital prominence and had gum hypertrophy. The diagnosis of this rare condition was based upon clinicopathological correlation, wherein the histopathological examination of cutaneous lesions reveals accumulation of hyaline material with fibroblast in the dermis. A multidisciplinary approach helped in correct diagnosis, management and in providing counseling for the parents. The child’s parents were counseled about the surgical excision of the lesion; however, the parents opted for non-surgical conservative management. |
| Databáze: | Directory of Open Access Journals |
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