Lupus Erythematosus: A Genetic Pathology

Definition and typology

Lupus erythematosus is a heterogeneous group of diseases that are related by the development of autoimmunity directed against different parts of the DNA of one’s own cells.

There are basically two types of Lupus erythematosus: systemic and cutaneous. At one end of the disease, systemic lupus can manifest itself with a mixture of various symptoms such as arthritis, kidney disorders, neurological disorders such as seizures or psychosis, anemia or reduction of defensive cells in the blood, cardiopulmonary disorders such as pleural effusions, heart failure, digestive disorders such as hepatitis, pancreatitis, ocular manifestations such as conjunctivitis, skin lesions, oral ulcers.

Cutaneous lupus would be the other end of the disease spectrum with skin lesions that usually appear in sun-exposed areas (face, neck, forearms, hands) and are classified as acute, subacute or chronic depending on the form and course. Acute forms are the most frequently associated with the development of systemic lupus.

Development of lupus and symptoms

It is necessary for an individual to have the right genes to develop the disease. In a genetically predisposed person, the disease can manifest itself at a given moment due to the action of various factors such as viral infections, sun exposure, certain drugs or smoking. A priori, it is not possible to know which individuals have this predisposition in order to be able to take preventive measures.

The cutaneous symptoms of the disease differ according to the clinical form. Acute forms are characterized by reddish, hot, plaque-like lesions on both sides of the nose and cheeks. They are often accompanied by fever, malaise, fatigue and may be part of a systemic form. Subacute forms produce lesions in the form of red bumps, of different sizes, which do not desquamate, usually distributed on the forehead, cheeks, nose and even décolleté, back and forearms. Chronic forms produce reddish lesions, especially on the face and neck, which grow around the edge with hard crusts and leave whitish scarred areas in the center.

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Treatment

To date there is no cure. It is a disease that evolves in outbreaks and does not have to be active continuously. We do have effective topical and oral treatments that control the disease.

Mild forms can be treated with cortisone creams. The most severe cutaneous forms usually require oral treatment with anti-inflammatory drugs. The most commonly used are antimalarials, or even immunosuppressants. If the disease is cutaneous, it is very important to protect oneself from the sun, either with sunscreen or appropriate clothing. Smoking cessation is another very beneficial aspect for the disease, whether cutaneous or systemic.