Pseudoxanthoma elasticus (PE) is a rare hereditary disease that is characterized by the formation of xanthoma nodules on the skin and internal organs. PE is an autosomal recessive disorder, meaning each parent must have at least one copy of the defective gene to pass it on to their child.
Symptoms of PE can appear at any age, but most often occur between the ages of 20 and 40. Xanthomas appear on the skin - small, hard, yellow nodules that can be located on the face, neck, arms or legs. They can be painful and itchy.
In addition, PE can lead to the development of other symptoms, such as:
– Muscle weakness
– Visual impairment
– Hearing impairment
– Memory and thinking disorders
Treatment for PE includes lifestyle changes, such as quitting smoking and alcohol, and taking medications. However, in most cases, PE is an incurable disease, and patients must monitor their health and undergo regular medical examinations.
Pseudochsanthoma elasticum is a rare and serious skin condition that is characterized by the appearance of raised red spots and blisters on the skin. The cause of elastic pseudochlanthoma is a mutation of the _ELAI_ gene, which is located on the X chromosome. Gene mutation