Touraine Congenital Polykeratosis

Touraine Congenital Polykeratosis: symptoms, causes and treatment

Touraine's Congenital Polykeratosis, also known as multiple ectodermal dysplasia, ectodermal polydysplasia, polykeratosis or Touraine's polykeratosis, is a rare inherited disorder that affects the development of skin, hair and nails. This disease was first described by French dermatologist Andre Touraine in 1929.

Symptoms of Touraine's Congenital Polykeratosis may appear immediately after birth or during the first few years of life. The main symptoms are thickening of the skin on the face, neck, arms and legs, and the appearance of horn-like growths on the skin, which can be painful and itchy. In addition, patients with Touraine's Congenital Polykeratosis may experience abnormal development of teeth, hair and nails.

The cause of Touraine's Congenital Polykeratosis is a disorder of genetic information that can be inherited from one or both parents. The disease belongs to a group of genetic disorders known as keratinization disorders, which affect the development of skin, hair and nails.

Treatment of Touraine's Congenital Polykeratosis is aimed at reducing symptoms and improving the patient's quality of life. Topical treatment may include the use of mild ointments and creams to soften the skin and reduce itching. In some cases, oral medications such as retinoids may be used to improve the skin and reduce the thickness of the horn-like growths. Surgical removal of horn-like growths may be necessary if they cause pain or impede movement.

Thus, Touraine's Congenital Polykeratosis is a rare hereditary disease that affects the development of skin, hair and nails. Treatment is aimed at reducing symptoms and improving the patient's quality of life. Regular consultations with a dermatologist and genetic counselor can help patients and their families better understand the disease and determine the risk of passing it on to future generations.

Touraine's congenital polykeratosis is a rare hereditary nosology that represents several syndromes simultaneously. It is characterized by a number of musculocutaneous abnormalities, a teratogenic effect on the fetus and additional symptoms - strabismus, limited movement and mental retardation of varying degrees.

ICD 10 code - Q87.8; 6A