Message-Durant Syndrome

Porac Durante syndrome (PDS) is a rare genetic disease that is characterized by the presence of multiple pigmented spots on the skin and mucous membranes of the body. It was first described in 1869 by French doctors Charles Porak and Guillaume Durant, who observed this disease in their patients.

The disease manifests itself in the form of multiple brown or black spots, which can be of various sizes and shapes. They can appear on the skin of the face, neck, chest, abdomen, arms and legs, as well as on the mucous membranes of the mouth, nose, eyes, ears and other organs.

The causes of PDS are still unknown, but the disease is believed to be associated with a mutation in the gene that is responsible for the production of melanin, the pigment responsible for skin and hair color. However, the mechanism of how exactly the mutation of this gene leads to the appearance of multiple pigmented spots remains unclear.

Treatment for PDS may include the use of creams and ointments containing melanin to reduce pigmentation on the skin. Laser treatments can also be used to remove age spots. In some cases, surgical removal of pigmented lesions may be required.

Although PDS is a rare disease, it can have a significant impact on patients' quality of life, especially if they suffer from severe forms of the disease. Therefore, it is important to diagnose and treat this disease early to provide the best possible care to patients.

Porac-Durant syndrome (PDS) is a hereditary storage disease associated with impaired glycocerebroside metabolism. PDS manifests itself at the age of 3-7 years with the development of convulsive syndrome against the background of an unchanged neurological picture. Hyperphenylalaninemia can have both a benign and malignant course.

Porac-Durante syndrome (PDS) occurs due to an autosomal recessive mode of inheritance, caused by a mutation in the AAAS (disaccharidyl phosphate angiosulfotransferase) gene located on chromosome 17q25.1. The genetic defect is in one of the two copies of this AAS gene (also known as AAATL). One of the alleles that receives the mutation never functions because the second remaining intact parent gene transcribes a small amount (usually 0%) of functioning AAS protein.

The syndrome causes clonal accumulation of GAGs in various tissues, including the brain, liver, spleen and other organs. This leads to a varied clinical picture