Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease

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Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease

Journal Title: Journal of Clinical and Diagnostic Research - Year 2017, Vol 11, Issue 7

Abstract

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.

Authors and Affiliations

PRARTHANA SAMEER KALGAONKAR, MINAL WADE, CHARUSHEELA WARKE, MEENA MAKHECHA, MANISHA KHARE

Keywords

Gingival hyperplasia Hyaline deposition Nodular skin lesions

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EP ID EP355778
DOI 10.7860/JCDR/2017/25280.10293
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