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Home > European References Networks > ERN-Skin - European Reference Network on Rare Skin Diseases

ERN-Skin - European Reference Networks of Rare Skin Diseases

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.    

Related Structures

UOC Clinica Dermatologica
UOC Clinica Pediatrica

Desease list

Code ORPHACode ERNDenomination
-RL0060Lichen Sclerosus et atrophicus
ORFHA:1882RN0880

Ectodermal dysplasias

ORPHA:1556  RN0540

Cutis marmorata teleangectatica congenita

ORPHA:158000RCG150

Juvenile Xanthogranuloma

ORPHA:1656RL0020Dermatitis Herpetiformis
ORPHA:183450  

Genetic hair abnormality

ORPHA:209  RN0500

Cutis laxa

ORPHA:2092RN0610

Focal dermal hypoplasia

ORPHA:218RN0550

Darier’s disease

ORPHA:281201RNG070

Congenital ichthyosis

ORPHA:303RN0570 Dystrophic Epidermolysis Bullosa 
ORPHA:304RN0570

Epidermolysis Bullosa Simplex

ORPHA:305RN0570Junctional Epidermolysis Bullosa 
ORPHA:312RN0600

Epidermolytic ichthyosis

ORPHA:316  RN0580

Progressive symmetric erythrokeratoderma

ORPHA:3243  

Sweet syndrome

ORPHA:33364RN1710

Trichothiodystrophy

ORPHA:35125RN1660

Epidermal nevus syndrome

ORPHA:377  RB0070Gorlin Syndrome
ORPHA:42775  RN0770

PHACE Syndrome

ORPHA:435RN1480

Hypomelanosis of Ito

ORPHA:464RN0510

Incontinentia pigmenti

ORPHA:46486RL0050

Benign mucous membrane pemphigoid

ORPHA:46487RL0030

Acquired Epidermolysis Bullosa

ORPHA:46488RL0040

Linear IgA Dermatitis

ORPHA:48104RL0090

Pyoderma gangrenosum

ORPHA:542  

Primary cutaneous lymphoma

ORPHA:55RCG040

Albinism

ORPHA:66646  RD0081

Cutaneous Mastocytosis

ORPHA:704RL0030

Pemphigus

ORPHA:738RCG110

Cutaneous porphyria

ORPHA:758RN0630

Pseudoxanthoma elasticum

ORPHA:910RN0520

Xeroderma pigmentosum

ORPHA:98842  

Lymphomatoid papulosis