Juvenile hyaline fibromatosis or infantile systemic hyalinosis: Hyaline fibromatosis syndrome

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, pap...

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Bibliographic Details
Published in:Indian journal of paediatric dermatology 2016-01, Vol.17 (1), p.38-41
Main Authors: Varshini, K, Haritha, K, Desai, Chirag, Rao, G, Chowdary, A, Amareswar, A, Murty, P
Format: Article
Language:English
Subjects:
Capillary morphogenesis gene 2 mutations
Care and treatment
Case studies
Diagnosis
Fibroma
hyaline fibromatosis syndrome
infantile systemic hyalinosis
juvenile hyaline fibromatosis
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Summary: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.
ISSN:2319-7250
2319-7269
DOI:10.4103/2319-7250.173155