What is juvenile hyaline fibromatosis?
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. It is a connective tissue disorder with aberrant synthesis of glycosaminoglycans by fibroblasts.
What is hyaline fibromatosis syndrome?
Hyaline fibromatosis syndrome is a disorder in which a clear (hyaline) substance abnormally accumulates in body tissues. This disorder affects many areas of the body, including the skin, joints, bones, and internal organs.
What is juvenile systemic hyalinosis?
Infantile systemic hyalinosis (ISH) is a very rare disorder belonging to the heterogeneous group of genetic fibromatoses and is characterized by progressive joint contractures, skin abnormalities, severe chronic pain and widespread deposition of hyaline material in many tissues such as the skin, skeletal muscle.
Is fibromatosis genetic?
Somatic β-catenin or APC gene mutations have been reported in ≤74% of sporadic deep fibromatoses and in virtually 100% of Gardner syndrome–associated fibromatoses, whereas genetic events in superficial fibromatoses remain less well characterized.
What is the meaning of fibromatosis?
Listen to pronunciation. (FY-broh-muh-TOH-sis) A condition in which multiple fibromas develop. Fibromas are tumors (usually benign) that affect connective tissue.
What is Hyalinosis?
Medical Definition of hyalinosis 1 : hyaline degeneration. 2 : a condition characterized by hyaline degeneration.
What is hyaline degeneration?
Medical Definition of hyaline degeneration : tissue degeneration chiefly of connective tissues in which structural elements of affected cells are replaced by homogeneous translucent material that stains intensely with acid stains.
What causes Gardner’s Syndrome?
Gardner syndrome is caused by changes ( mutations ) in the APC gene , which is called a “tumor suppressor.” Tumor suppressor genes encode proteins that are part of the system that controls cell growth and division. These proteins ensure that cells do not grow and divide too quickly or in an abnormal manner.
What is fibromatosis and what are the symptoms?
Symptoms may include: Soreness or pain caused by the tumor pressing on nearby nerves, muscles, or blood vessels. Tingling or a feeling of “pins and needles,” when the tumor presses on local nerves or blood vessels. Limping or other difficulties moving the legs or feet. Difficulty moving the arms or hands.
What are the symptoms of fibromatosis?
A fibroma is a benign, tumor-like growth made up mostly of fibrous or connective tissue….Common symptoms of a plantar fibroma
- Enlargement over time.
- Firm lump in the arch of the foot.
- Pain with pressure, standing or walking.
- Spread of additional fibromas over time.
How is fibromatosis treated?
Treatment options include surgery, nonsteroidal anti-inflammatory drugs with or without hormonal manipulation, chemotherapy, radiation therapy, and other forms of local therapy. Many treatments have been used, but these are not without toxicities.
What is hyaline change?
Hyaline change is any change that results in a glassy, pink homogenous staining of the tissue. It is almost always associated with the accumulation of a protein in the tissue – e.g. amyloid. In this slide, the tubular epithelial cells are pink and glassy.
What are the symptoms of hyaline fibromatosis syndrome?
This condition results in severe diarrhea, failure to gain weight and grow at the expected rate, and general wasting and weight loss (cachexia). Another common feature of hyaline fibromatosis syndrome is painful skin bumps that frequently appear on the hands, neck, scalp, ears, and nose.
What is the treatment for Juvenile Hyaline Fibromatosis?
Treatment Treatment. It has been suggested that physical therapy may help to treat joint contractures in juvenile hyaline fibromatosis; this therapy should be done with an awareness of the pain tolerance of each affected individual. Splinting may help reduce pain associated with contractures by stabilizing the joint.
Can a child with hyaline fibromatosis die?
Complications can be life threatening. Many children with the severe form (previously called infantile systemic hyalinosis) die in early childhood, while some with a milder form (previously called juvenile hyaline fibromatosis) survive into adulthood. [1]