Juvenile hyaline fibromatosis (JHF) is a rare bone dysplasia, characterized by papulo-nodular skin lesions (especially around the head and neck), soft tissue. Soft tissue. Fibroblastic / myofibroblastic tumors. Juvenile hyaline fibromatosis. Author: Lauren N. Stuart M.D., M.B.A.. Editor: Jerad M. Gardner. Juvenile hyaline fibromatosis is a very rare, autosomal recessive disease due to mutations in capillary morphogenesis protein-2 (CMG-2 gene). It occurs from.
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The matrix stains positively with PAS and alcian blue but does not stain with toluidine blue or congo red. Variable-sized grey-white nodular masses with gelatinous cut surface.
While the OMIM database is open to the public, users seeking information about a personal medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions. Journal List Indian J Dermatol v.
OMIM Entry – # – HYALINE FIBROMATOSIS SYNDROME; HFS
Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. But, there was fibromstosis at the same site. They were soft to firm in consistency and nontender. Large nodules on the hands and feet coincided with underlying articular cartilage.
Juvenile hyaline fibromatosis and infantile systemic hyalinosis.
All had onset in the first week of life and died before age 20 months. Mutations in the capillary morphogenesis factor -2 gene have also been described. Histologic analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material in the dermis summary by Denadai et al.
Indian J Dermatol Venereol Leprol. Juvenile hyaline fibromatosis and infantile systemic hyalinosis: JHF is a mild form of infantile fibromatoss hyalinosis see this term. Page views in Radiographs of the patients showed osteolytic bone lesions. Aldred and Crawford gave a comprehensive review of 23 cases of juvenile hyaline fibromatosis from 17 families.
Juvenile hyaline fibromatosis
They usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhea. Nyaline to cite this URL: Sitemap What’s New Feedback Disclaimer.
Expert curators review the literature and organize it to facilitate your work. Severe gingival hyperplasia can interfere with eating and delay dentition. Skin biopsy revealed deposition of hyaline.
JUVENILE HYALINE FIBROMATOSIS
Juvenile fibromatosis of the scalp in siblings. These patients may show intractable diarrhea and increased susceptibility to infection. The documents contained in this web site are presented for information purposes only. X-ray films showed numerous osteolytic and osteoclastic lesions of the skeleton. Case Report We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules over the scalp, back, ear lobules and lower lip [ Figure 1 ].
With the gene being mapped recently, techniques for antenatal diagnosis are likely to be established.
JUVENILE HYALINE FIBROMATOSIS
It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts. Mutations in the gene encoding capillary morphogenesis protein 2 cibromatosis juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Ultrastructure of a fibromatosis hyalinica multiplex juvenilis.
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From Wikipedia, the free encyclopedia. This gene is also known as capillary morphogenesis protein Disease definition Juvenile hyaline fibromatosis JHF is a rare bone dysplasia, characterized by papulo-nodular skin lesions especially around the head and necksoft tissue masses, gingival hypertrophy, joint contractures, fibromatossi osteolytic bone lesions in variable degrees.
The girl had recurrent diarrhea and failure to thrive in the first 2 years of life.