The following patient organisations participate in the ERN-Skin through the SKIN ePAG:

Cutis Laxa Internationale was set up on 11th November 2001, by the parents of Cécile who was diagnosed with Cutis Laxa in 1992. Its aims fits with the needs of patients and their families :

  • Breaking the loneliness, induced by the rarity of this syndrome
  • Working together with the medical and scientific world to improve knowledge and research

As of today we are still the only organisation worldwide. For about 20 years, CLI has allowed 422 sufferers (as of 1st June 2020) and their families to get to know each other, and to research to make huge improvement.

Marie-Claude Boîteux

SKIN ePAG Advocate

Associated thematic group

DEBRA France is an association under the French law of 1901 (non-profit), founded in 1985, bringing together patients suffering from epidermolysis bullosa (EB) and their families. Our association aims to finance research to cure the disease, but also to support the patients and their families.

EB is a group of rare genetic disorders characterised by fragility of the skin and mucous membranes, and mechanically induced blistering. EB comprises four main types – EB simplex (EBS), junctional EB (JEB), dystrophic EB (DEB), and Kindler EB (KEB), with more than 30 subtypes. EB is clinically heterogeneous including a broad spectrum of severity.

Contact: contact@debra.fr

Angélique Sauvestre Varela

Skin ePAG Advocate

 Associated thematic group

Debra Belgium was created by patients and parents in 1998 and is run by a team of volunteers and 1 halftime employee.
We know about 130 families, all EB types together.

The treatment of EB is complex and expensive. Debra strives for better and affordable care. We work closely together with the multidisciplinary EB team at the University Hospital of Leuven, where we partly finance the “EB-nurse” project.

Debra connects EB families. They exchange practical tips and find support from each other. Debra informs families and other stakeholders through its website, brochures, newsletters and social media.

Contact: info@debra-belgium.org

Ingrid Jageneau

SKIN ePAG Advocate

Associated thematic group

The APPF was created in 2005 by patients. Its aim is to provide help, information and support to people suffering from rare autoimmune blistering skin and/or mucous membrane diseases such as Pemphigus, Pemphigoids, Epidermolysis Bullosa Acquisita, Linear IgA Dermatosis or Dermatitis Herpetiformis.

Contact: appf@protonmail.com

Laurence Gallu

SKIN ePAG Advocate

 Associated thematic group

Isabelle Gentile

SKIN ePAG Advocate

 Associated thematic group

Naevus global aims to connect people worldwide to improve the lives of those affected by Congenital Melanocytic Naevus.

Contact: president@naevusglobal.org

Marjolein Van Kessel

SKIN ePAG Advocate

Associated thematic group

CMTC-OVM is a worldwide non-profit patient organization that aims to improve the quality of life of people suffering from vascular abnormalities (blood vessel abnormalities), such as CMTC (‘Van Lohuizen syndrome’), and stimulate scientific research into these disorders.

Contact: president@cmtc.nl

Lex van der Heijden

SKIN ePAG Advocate

Associated thematic group

Genespoir is the French association for albinism. It was founded in 1995 and gathers members from France, Belgium, Luxembourg and Switzerland.
Genespoir aims to improve the lives of people with albinism and their families both in terms of social experience and medical care.
Since its creation, the association has been actively promoting research on albinism in order to improve the knowledge on the genetic and cellular mechanisms causing the condition and allow the development of therapies.
Among its missions, Genespoir provides accurate and up-to-date information on albinism to families, medical professionals and the general public. This covers diagnosis, sun protection, optimal vision correction and protection, social issues, schooling and employment. It provides support to people with albinism and their families, and informs them of their rights.

Contact: international@genespoir.org

Antoine Gliksohn

SKIN ePAG Advocate

 Associated thematic group

p63 Syndrome E.E.C International Onlus is an INTERNATIONAL non-profit association founded in 2009 with the aim of supporting activities in support of people suffering from rare diseases. The primary mission of the association is to raise public awareness on rare diseases, in particular EEC Syndrome and similar diseases, caused by the TP63 gene. While much has been done in the scientific field thanks to excellent international collaborations, much more needs to be done in the field of cellular research. In the social field, the association has been the protagonist of a great innovation: transforming the concept of “different” from the others into self-acceptance. p63 Syndrome E.E.C International Onlus is an association of social promotion formed by young people and volunteers and young professionals that aims, through numerous services and initiative Please note we are the only association for EEC Sydrome, as recognize from EURORDIS FOR wich we are an european Organization on eec syndrome and tp63 genetcs mutations.

Contact: segreteria-international@sindrome-eec.it

Giulia Volpato

SKIN ePAG Advocate

 Associated thematic group

Selbsthilfegruppe Ektodermale Dysplasie e.V. is a charity covering the German-speaking countries Germany, Austria, and Switzerland. We provide information and support and work together with professionals and researchers. We are raising awareness and facilitate networking amongst the families. Our aim is to improve the health and daily live for people whose lives are affected with Ectodermal Dysplasia.

Contact: andrea@ektodermale.dysplasie.de
ulrike@ektodermale.dysplasie.de

Ulrike Holzer

SKIN ePAG Advocate

Associated thematic group

The Ectodermal Dysplasia Society, based in the UK, became a charity in 2001 to support families affected by Ectodermal Dysplasia (ED) by providing much needed information and signposting to medical professionals who have experience of this condition. We continue working for our ED community around the UK bringing families together, increasing awareness and providing support.

Contact: info@edsociety.co.uk

Diana Perry

Skin ePAG Advocate

Associated thematic group 

The Patients’ Association HS Denmark works for people with hidradenitis suppurativa (HS) in Denmark. Our primary focus is to raise awareness of HS, and provide information about HS among patients, health care professionals, and in society, including politicians. Furthermore, we support HS patients, create networks, and represent Danish HS patients.

Contact: info@hidrosadenitis.dk

Bente Villumsen

SKIN ePAG Advocate

 Associated thematic group