The rare diseases in dermatology

Abstract

Rare Diseases (RM) are those pathologies that in the general population have a prevalence below a certain threshold, which is established by each nation.

In Europe and also in Italy, MR is a morbid form that has a prevalence equal to or less than 5 cases out of 10,000 people.

The number of rare diseases is estimated between 6,000-8,000 entities and is constantly growing due to new pathologies that are identified, especially of a genetic type.

In Europe 25-36 million people are affected by rare diseases, while in the rare diseases there are about 2 million and around 19,000 new cases are reported every year.

In addition to the rarity, rare diseases are united by other peculiarities: the difficulty in obtaining a valid treatment, they are often chronic and disabling and determine a variable reduction in the quality of life.

Until a few years ago, the attention of governments and scientific communities towards these diseases and the subjects who suffer from them was insufficient.

For about 4-5 years, however, government institutions have organized task forces that involved doctors, pharmaceutical industries and associations of patients with rare diseases, with the aim of addressing and trying to solve the various problems related to the management and care of people affected by these disabilities: Diagnostic Therapeutic Assistance Plans (PDTAs) have been developed for each group of rare diseases, which serve as guidelines in the management of patients.

Also at European level in 2017 interactive networks (ERN: European Reference Networks) were set up involving the major European research centers.

They have the task of studying rare diseases, disseminating knowledge on these pathologies also through the help of patient associations, seeking therapeutic remedies involving pharmacological industries and sensitizing government institutions to take appropriate measures to help patients and their families to bear the "burden" that these diseases bring.

In practice, rare diseases constitute a large and heterogeneous group of pathologies that involve every organ and system: many are genetically determined, the others are acquired. As part of this review, rare diseases involving the skin will be addressed.

The rare diseases involving the skin are about 3,000. Since the skin is a “visible” organ, with a particular and complex embryology and with an important immune activity, the diseases present themselves clinically with extremely polymorphic aspects and sometimes difficult to evaluate even for the most expert clinicians.

Since it is impossible to examine all of them, the most important ones determined by genetic defects and involvement of the immune response will be privileged.