Lefebvre-Papillon Syndrome

Lefebvre-Papillon syndrome: causes, symptoms and treatment methods

Lefebvre-Papillon syndrome, also known as toe-hand-toe syndrome, is a rare inherited disease characterized by early onset severe and rapid keratinization of the skin of the palms, soles and nail beds, as well as inflammatory manifestations of the gums. This hereditary disease is transmitted by autosomal recessive inheritance, which means that two copies of the altered gene must be inherited for the syndrome to occur.

The syndrome was named after French dermatologists Pierre Lefebvre and Marie-Louis Papillon, who first described it in the 1920s.

Symptoms of Lefebvre-Papillon syndrome usually begin to appear in the first months of a child's life. The skin of the palms, soles and nail beds becomes thick, rough and rough to the touch. The skin in these areas may also peel and crack, which can lead to painful sores and infections. Patients with Lefebvre-Papillon syndrome may also experience periodontal disease, which leads to tooth loss. In rare cases, the syndrome can cause problems with vision, hearing and smell.

The diagnosis of Lefebvre-Papillon syndrome is based on clinical signs as well as genetic studies.

Since the syndrome is hereditary, its treatment is aimed at improving the quality of life of patients. Treatment may include the use of mild ointments and creams to reduce horning of the skin, as well as antibiotics to treat infections. Patients may also be prescribed special orthotics to relieve pain and discomfort when walking.

In more severe cases, where the syndrome causes serious problems such as tooth loss, surgery may be required.

In conclusion, Lefebvre-Papillon syndrome is a rare but serious condition that can cause significant problems for patients. Treatment of this syndrome is aimed at reducing symptoms and improving the quality of life of patients. Early consultation with a doctor and proper treatment can help prevent possible complications.

Lefebvre Papillon syndrome

Lefebvre-Papillon syndrome (Le Poilloux) is a genetic disease caused by a mutation in the KCNJ9 gene. It manifests itself as multiple cystic lesions of the skin and internal organs in newborns. These lesions cause a severe course of the disease and also lead to its complications, including premature death. If you have symptoms of Lefebvre-Papillon syndrome, it is necessary to take measures for its treatment and prevention.

The first symptoms of the syndrome appear already at the beginning of intrauterine development of the fetus. Genetic