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Year : 2016  |  Volume : 17  |  Issue : 1  |  Page : 38-41

Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome

1 Department of DVL, GSL Medical College, Rajhamundry, Andhra Pradesh, India
2 GSMC and KEM Hospital, Mumbai, Maharashtra, India
3 Surya Skin Care and Research Center, Visakhapatnam, Andhra Pradesh, India

Correspondence Address:
G Raghurama Rao
Department of DVL, GSL Medical College, Rajanagaram, Rajahmundry - 533 296, Andhra Pradesh
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Source of Support: None, Conflict of Interest: None

DOI: 10.4103/2319-7250.173155

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Juvenile hyaline fibromatosis or infantile systemic hyalinosis is a rare progressive, fatal autosomal recessive disorder characterized by widespread deposition of hyaline. Mutations in capillary morphogenesis gene 2 gene is responsible for both these conditions. They usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhea. We report a 1-year-old girl with typical facial lesions, joint contractures and mild gingival hyperplasia without history of diarrhea and recurrent infections. Skin biopsy revealed deposition of hyaline.

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