Juvenile Hyaline Fibromatosis is a rare genetic disorder characterized by the formation of tumors in the skin, joints, and other connective tissues. It is not contagious and cannot be transmitted from person to person. The condition is caused by mutations in the ANTXR2 gene. Symptoms usually appear in infancy or early childhood and may include joint stiffness, skin nodules, and gum hypertrophy. Early diagnosis and management can help improve the quality of life for affected individuals.
Juvenile Hyaline Fibromatosis (JHF) is a rare genetic disorder characterized by the development of fibrous tumors in various parts of the body. It primarily affects the skin, joints, and bones, leading to progressive stiffness, limited mobility, and disfigurement.
One of the key concerns for individuals and families affected by JHF is whether the condition is contagious. It is important to note that JHF is not contagious or infectious. It is an inherited disorder caused by mutations in the capillary morphogenesis gene 2 (CMG2) or the anthrax toxin receptor 2 (ANTXR2) gene. These mutations are passed down from parents to their children in an autosomal recessive manner.
Autosomal recessive inheritance means that both parents must carry a copy of the mutated gene for their child to develop JHF. If both parents are carriers, there is a 25% chance with each pregnancy that their child will inherit two copies of the mutated gene and develop the disorder.
It is crucial to understand that JHF is not caused by exposure to infectious agents or by any external factors. It is solely a genetic condition that is not transmissible between individuals. Therefore, there is no risk of contracting JHF from someone affected by the disorder.