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 ridge...
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| Format: | Article |
| Language: | English |
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JCDR Research and Publications Private Limited
2017-07-01
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| Series: | Journal of Clinical and Diagnostic Research |
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| Online Access: | https://jcdr.net/articles/PDF/10293/25280_CE[Ra]_F(Sh)_PF1(P_PG)_PFA(NC).pdf |
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| author | PRARTHANA SAMEER KALGAONKAR MINAL WADE CHARUSHEELA WARKE MEENA MAKHECHA MANISHA KHARE |
| author_facet | PRARTHANA SAMEER KALGAONKAR MINAL WADE CHARUSHEELA WARKE MEENA MAKHECHA MANISHA KHARE |
| author_sort | PRARTHANA SAMEER KALGAONKAR |
| collection | DOAJ |
| description | 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. |
| first_indexed | 2024-12-14T19:25:37Z |
| format | Article |
| id | doaj.art-e77600b814a242e3b96dba01910202d6 |
| institution | Directory Open Access Journal |
| issn | 2249-782X 0973-709X |
| language | English |
| last_indexed | 2024-12-14T19:25:37Z |
| publishDate | 2017-07-01 |
| publisher | JCDR Research and Publications Private Limited |
| record_format | Article |
| series | Journal of Clinical and Diagnostic Research |
| spelling | doaj.art-e77600b814a242e3b96dba01910202d62022-12-21T22:50:13ZengJCDR Research and Publications Private LimitedJournal of Clinical and Diagnostic Research2249-782X0973-709X2017-07-01117SD04SD0610.7860/JCDR/2017/25280.10293Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive DiseasePRARTHANA SAMEER KALGAONKAR0MINAL WADE1CHARUSHEELA WARKE2MEENA MAKHECHA3MANISHA KHARE4Consultant, Department of Paediatrics, Dr R N Cooper Hospital and Hindu Hriday Samrat Balasaheb Thackrey Medical College, Vile Parle West, Mumbai, India.Associate Professor, Department of Paediatrics, Dr R N Cooper Hospital and Hindu Hriday Samrat Balasaheb Thackrey Medical College, Vile Parle West, Mumbai, India.Associate Professor, Department of Paediatrics, Dr R N Cooper Hospital and Hindu Hriday Samrat Balasaheb Thackrey Medical College, Vile Parle West, Mumbai, India.Associate Professor, Department of Dermatology, Dr R N Cooper Hospital and Hindu Hriday Samrat Balasaheb Thackrey Medical College, Vile Parle West, Mumbai, India.Professor, Department of Pathology, Dr R N Cooper Hospital and Hindu Hriday Samrat Balasaheb Thackrey Medical College, Vile Parle West, Mumbai, India.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.https://jcdr.net/articles/PDF/10293/25280_CE[Ra]_F(Sh)_PF1(P_PG)_PFA(NC).pdfgingival hyperplasiahyaline depositionnodular skin lesions |
| spellingShingle | PRARTHANA SAMEER KALGAONKAR MINAL WADE CHARUSHEELA WARKE MEENA MAKHECHA MANISHA KHARE Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease Journal of Clinical and Diagnostic Research gingival hyperplasia hyaline deposition nodular skin lesions |
| title | Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease |
| title_full | Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease |
| title_fullStr | Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease |
| title_full_unstemmed | Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease |
| title_short | Juvenile Hyaline Fibromatosis- A Rare Autosomal Recessive Disease |
| title_sort | juvenile hyaline fibromatosis a rare autosomal recessive disease |
| topic | gingival hyperplasia hyaline deposition nodular skin lesions |
| url | https://jcdr.net/articles/PDF/10293/25280_CE[Ra]_F(Sh)_PF1(P_PG)_PFA(NC).pdf |
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