Siemens Syndrome

Siemens syndrome is a rare genetic disease that is characterized by congenital abnormalities of the skin and other organs. It was named after the German dermatologist Walter Siemens (1889-1966), who first described it in 1927.

Siemens syndrome is characterized by a variety of symptoms, including abnormalities of the skin, hair and nails, as well as problems with internal organs. The most common symptom is congenital anhidrosis, which is a lack of sweating. Other symptoms may include keratoses, increased sensitivity to the sun, skin atrophy and other changes.

The cause of Siemens syndrome is unknown, but it is thought to be related to genetic mutations. Research suggests that the syndrome may be associated with various genes, including those responsible for regulating skin development.

Treatment for Siemens syndrome may include the use of special creams and ointments to moisturize the skin, as well as sun protection. In some cases, skin grafts or surgery may be required to remove abnormal tissue.

However, despite all efforts, Siemens syndrome remains incurable and can lead to serious health consequences. Many patients with this disease experience difficulties in social adaptation and require constant medical support.

Siemens syndrome

Congenital anhidrotic ectodermal dysplasia syndrome, also called idiopathic keratosis multiforme (IDS), refers to a group of hereditary diseases in which temporary or progressive loss of hair (anhidrosis), skin, nails and mucous membrane occurs.

To date, the role of EDA gene mutations in the genesis of this syndrome has been practically proven. Mutation - replacement of heptapnoise (A>T) in the 3rd intron of the gene. This reduces the level of gene expression and leads to weakness of its regulatory action. A consequence of this is the overexpression of several other genes associated with soft tissue development, including IGF1 synthetase, collagen-XI synthetase, glycoprotein IIIc, and ZO-1 protein. The described mutational polymorphism of the gene is associated with a greater risk of developing syndrome S