Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease

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,...

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Bibliographic Details
Published in:Journal of clinical and diagnostic research 2017-07, Vol.11 (7), p.SD04-SD06
Main Authors: Kalgaonkar, Prarthana Sameer, Wade, Minal, Warke, Charusheela, Makhecha, Meena, Khare, Manisha
Format: Article
Language:English
Subjects:
Paediatrics Section
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Summary: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.
ISSN:2249-782X
0973-709X
DOI:10.7860/JCDR/2017/25280.10293