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.
|Published (Last):||9 June 2012|
|PDF File Size:||3.71 Mb|
|ePub File Size:||8.4 Mb|
|Price:||Free* [*Free Regsitration Required]|
X-ray films showed numerous osteolytic and osteoclastic lesions of the skeleton. Excision in multiple sittings has been planned.
Some of the lesions had ulcerated. Page views in Additional features include gingival hypertrophy, progressive joint contractures resulting in severe limitation of mobility, osteopenia, and osteoporosis. Infantile systemic hyalinosis or juvenile hyaline fibromatosis?
Two siblings with juvenile hyaline fibromatosis: In contrast, hyaluronan is the most abundant in normal skin. Rare hereditary pediatric disorder with extracellular hyaline material deposition in skin, soft tissue and bone. Variable-sized grey-white nodular masses with gelatinous cut surface.
Fivromatosis analysis of skin lesions shows proliferation of spindle-shaped cells forming strands in a homogeneous and hyaline eosinophilic extracellular material fibromatosid the dermis summary by Denadai et al. Specialised Social Services Eurordis directory.
As of now, there is no specific treatment for this disorder. Introduction Juvenile hyaline fibromatosis JHF is a rare, autosomal-recessive hereditary disease with distinct clinical and histopathological features.
A number sign is used with this entry because hyaline fibromatosis syndrome HFS is caused by homozygous or compound heterozygous mutation in the gene encoding capillary morphogenesis protein-2 CMG2, or ANTXR2; on chromosome 4q Images hosted on other servers: Boys are affected slightly more commonly than girls.
There was a problem providing the content you requested
The first child died of respiratory distress at age 3 days. Nodules on pinna of ear.
This website is intended for pathologists and laboratory personnel, who understand that medical information is imperfect and must be interpreted using reasonable medical judgment.
Kitano reported an affected boy who was born of consanguineous parents. D ICD – Autosomal recessive disorder; associated with consanguineous parents J Am Acad Dermatol ; Clinical Synopsis Toggle Dropdown.
The patients presented in early childhood with progressive development of multiple subcutaneous swellings and nodules on the scalp, face, extremities, and trunk. He had large tumors on the scalp fibromatossis whitish nodules on the nape and juvemile of the neck. A report of two unrelated adult sibling cases and a literature review.
Enzinger and Weiss’s Soft Tisssue Tumors. You can help Wikipedia by expanding it. The parents of 1 of the children were consanguineous. They usually present with fleshy, papular lesions, joint contractures, gingival hyperplasia, and persistent diarrhea. A scan of the world literature revealed that less than 70 cases have been reported so far. This Dermal and subcutaneous growths article is a stub. This condition is characterised by abnormal growth of hyalinized fibrous tissue with cutaneous, mucosal, osteoarticular and systemic involvement.
Fine needle aspiration cytology smears and the subsequent histopathological examination from the nodules fjbromatosis benign spindle cells in a Periodic acid Schiff-positive myxoid background.
JUVENILE HYALINE FIBROMATOSIS
Fibroblasts with fibril-filled balls dilated ER with numerous cisternae containing granular material fibromatksis displace nearly the entire cytoplasm The same granular material is present in extracellular spaces Weiss, Goldblum, Folpe: The documents contained in this web site are presented for information purposes only. Infobox medical condition new All articles with unsourced statements Articles with unsourced statements from November Fibromatossis stub articles.
Other patients have later onset of a milder disorder affecting only the face and digits.
Suschke and Kunze considered the condition to be a mucopolysaccharidosis. The infants failed to thrive and had diarrhea and recurrent infections.
Orphanet: Juvenile hyaline fibromatosis
Indian Dermatol Online J ;1: Murray and Whitfield and Robinson reported 3 affected sibs whose unaffected parents were first cousins. Hyaline fibromatosis syndrome is an autosomal recessive condition characterized by abnormal growth of fibromahosis fibrous tissue usually affecting subcutaneous regions on the scalp, ears, neck, face, hands, and feet.
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.