What is Juvenile hyaline fibromatosis?

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?

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.

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 are the main diseases in which systemic Hyalinosis is observed?

[5] ISH is one of the differentials for infantile stiff skin syndromes, others being Winchester’s syndrome, congenital fascial dystrophy (stiff skin syndrome), infantile restrictive dermopathy, and juvenile hyaline fibromatosis (JHF).

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 causes Zenker’s degeneration?

What Are the Causes of Zenker’s Diverticulum? Malfunctioning of the cricopharyngeal muscle with aging seems to be the main cause. Some neurologic diseases, such as a stroke, may result in malfunctioning of the cricopharyngeal muscle.

What causes hyaline degeneration?

As with many other types of degeneration, it happens when fibroids outgrow their blood supply 4. Hyaline degeneration involves the presence of homogeneous eosinophilic bands or plaques in the extracellular space, which represent the accumulation of proteinaceous tissue 1.

What is hyaline material?

In histopathological medical usage, a hyaline substance appears glassy and pink after being stained with haematoxylin and eosin—usually it is an acellular, proteinaceous material. An example is hyaline cartilage, a transparent, glossy articular joint cartilage.