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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Purifaction and structural analysis of extracellular matrix of a skin tumor from a patient with juvenile hyaline fibromatosis.
Excision in multiple sittings has been planned. This gene is also known as capillary morphogenesis protein Mutations in capillary morphogenesis gene-2 result in the allelic disorders juvenile hyaline fibromatosis and infantile systemic hyalinosis.
Histopathology analysis of involved tissues reveals cords of spindle-shaped cells embedded in fibtomatosis amorphous, hyaline material.
The gene for juvenile hyaline fibromatosis maps to chromosome 4q The main features were early thickening and focal nodularity of the skin leading to reduced movement and joint contractures, gum hypertrophy, and osteoporosis. JHF is a rare, crippling autosomal-recessive disorder, first described by Mc Murray in as molluscum fibrosum and renamed by Kitano as JHF in Nil Conflict of Interest: Boys are affected slightly more commonly than girls.
CC ]. Histopathologic studies showed that the tumor cells were embedded in an amorphous eosinophilic ground substance. Views Read Edit View history. As of now, there is no specific treatment for this disorder. Early tumorectomy may help, but relapses are not infrequent.
OMIM Entry – # – HYALINE FIBROMATOSIS SYNDROME; HFS
We report a 5-year-old female born of first-degree consanguineous marriage who presented with multiple, recurrent, painless, variable-sized nodules juvenild the scalp, back, ear lobules and lower lip [ Figure 1 ]. Poorly circumscribed amorphous or nodular deposits of abundant, hyaline material with embedded fibroblasts in cords Can have retraction artifact around fibroblasts Early lesions are characterized by increased cellularity No atypia, no necrosis.
Landing and Nadorra suggested that this infantile systemic disorder was distinct from juvenile systemic juvenille, which they considered to be the same as juvenile hyaline fibromatosis.
He had a history of pearly and nodular skin lesions, gingival hyperplasia, and joint contractures from the first months of life.
JUVENILE HYALINE FIBROMATOSIS
This gene is located on the long arm of chromosome 4 4q Int J Dermatol ; How to cite this article: None, Conflict of Interest: The parents of 1 of the children were consanguineous. Radiographs showed osteopenia or osteolysis, and skin biopsy showed excessive hyaline deposition.
X-ray films showed numerous osteolytic and osteoclastic lesions of the skeleton. A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.
Juvenile hyaline fibromatosis
OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers, and by advanced students in science and medicine. The severity is variable. Detailed information Professionals Summary information Greekpdf Polskipdf Clinical genetics review English Amorphous hyaline matrix in dermis with fibroblasts. Large ulcerated nodules on back. The gene that causes JHF has been mapped to 4q Juvenile hyaline fibromatosis is a rare, autosomal-recessive disease characterized by papular and nodular skin lesions, gingival hyperplasia, joint contractures and bone involvement in variable degrees.
Fibrous tumors of infancy and childhood. Mutations in capillary morphogenesis gene 2 gene is responsible for both these hyalie. He had large tumors on the scalp and whitish nodules on the nape and sides of the neck.
Capillary morphogenesis gene 2 mutations, hyaline fibromatosis syndrome, infantile systemic hyalinosis, juvenile hyaline fibromatosis. Electron microscopic studies showed increased amorphous mucoid or hyaline material in the skin, with a striking perivascular deposition suggestive of an intravascular origin.
The matrix was PAS positive [ Figure 5 ]. Some of the lesions had ulcerated. The infants failed to thrive and had diarrhea and recurrent infections.