Polydysplasia Ectodermal Congenital Touraine

Touraine's congenital epidermal polydysplasia is a rare hereditary skin disease characterized by delayed development of the skin and its derivatives (hair, nails) on the patient's face or body. It belongs to a group of genetic diseases known as osteogenesis imperfecta.

The disease develops as a result of mutations in genes associated with the coding of proteins necessary for the proper development of epidermal tissues. Instead, these mutations lead to decreased synthesis of some of these proteins and delayed development of the skin and its derivatives, causing a variety of symptoms in patients.

One of the most common symptoms is delayed growth of hair and nails on the face and body. Hair may be thin, long, and wavy or curly in appearance. Nails may be short and thin or absent altogether. In addition, some patients may experience breast hypoplasia, respiratory muscle weakness, and signs of muscle weakness in the upper extremities.

Unfortunately, the exact cause of Touraine's hereditary epidermal polydysplasia is unknown. However, it is associated with different types of gene mutations. These mutations can be caused by both environmental and hereditary factors.

Treatment of the disease consists of cosmetic skin care such as emollients. Patients should avoid contact with products that can damage the skin, such as alcohol solutions and chlorine water. They should also limit sun exposure and avoid exposure to sunlight to avoid an increase in symptoms.

Polydysplasia of epidemic heredity and Touraine refers