Rare skin diseases are a heterogeneous group of conditions that can affect the skin and skin appendages, often characterized by peculiar and variable symptoms, such as skin lesions, intense itching or pigmentary alterations. Although each individual condition is uncommon, taken together these diseases affect thousands of people worldwide. They can have a strong impact on the quality of life, both for the physical symptoms, the chronicity of the condition and the psychological and social repercussions.
The diagnosis and treatment of rare skin diseases are often complex and require a multidisciplinary approach, including dermatologists, geneticists and other specialized figures, with the aim of managing the symptoms and improving the well-being of patients. The diagnostic process for rare skin diseases requires an accurate and complete examination of the entire skin and mucous system, as well as an equally accurate general objective examination, a careful anamnesis and, in some cases, the use of histological tests via skin biopsy.
Sometimes, collaboration with geneticists is also essential to make a definitive diagnosis.
The ability to make a differential diagnosis between the different conditions requires extensive knowledge; clinical experience and the difficulty in formulating a definitive diagnosis is the main obstacle to establishing adequate treatment. This is inevitably associated with a high impact of the disease on the patient's quality of life, both physically and psychologically.
Our clinics are dedicated to the diagnosis, treatment and research of rare dermatological diseases. The specialist and multidisciplinary approach aims to offer personalized and quality care to patients affected by rare skin diseases, which are difficult to identify and treat.
Our mission is to ensure accurate and timely diagnosis, improve the quality of life of patients and promote clinical research to develop new therapies and treatment protocols.
We are part of a network of national and international centers specialized in the treatment of rare diseases, which allows us to share knowledge and best practices, as well as access global resources for treatment and research.
ERN-Skin brings together international experts in the field of pediatric and adult dermatological rare diseases, in order to allow a mutual exchange of knowledge, the development of guidelines and indications of "best practice", the organization of education and training events for doctors and educational events for patients.
We work closely with patient associations to ensure that their voices are heard and that they receive the necessary support.
Code ORPHA | Code ERN | Denomination |
---|---|---|
- | RL0060 | Lichen Sclerosus et atrophicus |
ORFHA:1882 | RN0880 | Ectodermal dysplasias |
ORPHA:1556 | RN0540 | Cutis marmorata teleangectatica congenita |
ORPHA:158000 | RCG150 | Juvenile Xanthogranuloma |
ORPHA:1656 | RL0020 | Dermatitis Herpetiformis |
ORPHA:183450 | Genetic hair abnormality | |
ORPHA:209 | RN0500 | Cutis laxa |
ORPHA:2092 | RN0610 | Focal dermal hypoplasia |
ORPHA:218 | RN0550 | Darier’s disease |
ORPHA:281201 | RNG070 | Congenital ichthyosis |
ORPHA:303 | RN0570 | Dystrophic Epidermolysis Bullosa |
ORPHA:304 | RN0570 | Epidermolysis Bullosa Simplex |
ORPHA:305 | RN0570 | Junctional Epidermolysis Bullosa |
ORPHA:312 | RN0600 | Epidermolytic ichthyosis |
ORPHA:316 | RN0580 | Progressive symmetric erythrokeratoderma |
ORPHA:3243 | Sweet syndrome | |
ORPHA:33364 | RN1710 | Trichothiodystrophy |
ORPHA:35125 | RN1660 | Epidermal nevus syndrome |
ORPHA:377 | RB0070 | Gorlin Syndrome |
ORPHA:42775 | RN0770 | PHACE Syndrome |
ORPHA:435 | RN1480 | Hypomelanosis of Ito |
ORPHA:464 | RN0510 | Incontinentia pigmenti |
ORPHA:46486 | RL0050 | Benign mucous membrane pemphigoid |
ORPHA:46487 | RL0030 | Acquired Epidermolysis Bullosa |
ORPHA:46488 | RL0040 | Linear IgA Dermatitis |
ORPHA:48104 | RL0090 | Pyoderma gangrenosum |
ORPHA:542 | Primary cutaneous lymphoma | |
ORPHA:55 | RCG040 | Albinism |
ORPHA:66646 | RD0081 | Cutaneous Mastocytosis |
ORPHA:704 | RL0030 | Pemphigus |
ORPHA:738 | RCG110 | Cutaneous porphyria |
ORPHA:758 | RN0630 | Pseudoxanthoma elasticum |
ORPHA:910 | RN0520 | Xeroderma pigmentosum |
ORPHA:98842 | Lymphomatoid papulosis |