16th December : ERN-Skin, training session in Ghent (Belgium).

Organised by Pr Bert Callewaert, this session included a whole chapter dedicated to Cutis Laxa and all the scientific progress about it. See below  “What’s new about Cutis Laxa».

Other pathologies were also presented and patients representatives took part in a panel discussion « Patients’ burden : What healthcare professionals need to know ? ».

What’s new about Cutis Laxa


During the training session in Ghent, the first part of the morning was almost totally dedicated to Cutis Laxa.

Several cases were presented by young doctors.


An overview talk on Cutis Laxa presented the clinical classification of Cutis Laxa disorders. Cutis laxa has an extensive clinical and molecular heterogeneity.


Based on a flowchart addressing the presence or absence of the main clinical symptoms, over 90 % of the people suffering from Cutis Laxa are correctly classified.

The main symptoms are: arterial tortuosity, emphysema, wrinkled/lax skin, neurological issues with or without intrauterine growth retardation (IUGR). In addition to those main symptoms, minor criteria are suggested for each type: arachnodactyly, aortic aneurysm, aortic stenosis, respiratory distress, diverticula, hearing loss, large anterior fontanelle, joint contractures, hip dislocation or ataxia.

The classification was based on a ‘learning’ cohort of patients known to the Ghent University Hospital. Refinement of the classification is ongoing based on a confirmation cohort from literature (650 patients).  Patients are classified based upon clinical examination and the main symptoms into major groups. Further refinement based on the minor criteria will eventually be able to predict the causal gen in over 95% of patients.

As an example, a patient with a lax skin, neurologic issues, intrauterine growth retardation as well as hip dislocation and ataxia, associated with ALDH18A1 mutation, will be diagnosed with Autosomal Recessive Cutis Laxa Type 3 or Syndrome De Barsy (ARCL3).

This new classification will help to a quicker diagnosis, interpretation of next-generation sequencing data and provide an opportunity of specific management and care for each type of Cutis Laxa.

Ghent University welcomed this session in its historic buildings.

Pure marvel, as is all the city of Ghent..….




i.e. patients with abnormalities of the connective or elastic tissue, patients with severe denutrition, patients with severe scoliosis and respiratory insufficiency, etc.



  • Wash your hands as often as needed
  • Sneeze and/or caugh in your elbow and use a disposable tissue
  • avoid shacking hands and huging
  • Keep a one meter distance from others




New Contacts, Families’ News

A warm welcome to the CL patients who joined us in 2019 :

Lilah, Angie, Nathan, Jessie, Cassius, Akim, Felicity, Kofi, Kollin, Grace, Ashley & Janet, in the U.S.A,

Fernanda in Brazil,

Olive in Australia

Qamar in Egypt,

Moctar’s son,  the first patient we know of in Senegal.

River,  Meagan & her mother, in Canada

Tina, Rhian in Great-Britain

Zeynep in Turkey

Anaaya in India

Welcome to all of you. We now are 413 patients worldwide that are not alone

Does “Gaston Lagaff”, cartoon character, have Ehlers-Danlos Syndrom ?

Humorous, but very serious

Pr Mickaël Dinomais, Professor in Physical and Readaptation Medicine, at the University of Angers (France), published a very interesting article.

He studied the famous French cartoon character “Gaston Lagaff” and, considering all the clinical features and symptoms, could diagnose that he suffers from Ehlers-Danlos Syndrom.

This is a very interesting and entertaining way to describe a disorder.

Read the all article, in French, at :





The French Network for rare dermatologic diseases has launched its youtube channel wher are posted videos about various issues (French talking):

Aesthetic Disability


Local Houses for Disabled People (MDPH)


Corrective Make-up

Dill Extract Induces Elastic Fiber Neosynthesis

Dill Extract Induces Elastic Fiber Neosynthesis and Functional Improvement in the Ascending Aorta of Aged Mice with Reversal of Age-Dependent Cardiac
Hypertrophy and Involvement of Lysyl Oxidase-Like-1

Wassim Fhayli 1, Quentin Boëté 1, Nadjib Kihal 2, Valérie Cenizo 3, Pascal Sommer 4,
Walter A. Boyle 5, Marie-Paule Jacob 6 and Gilles Faury 1,*
1 Univ. Grenoble Alpes, Inserm, CHU Grenoble Alpes, HP2, 38000 Grenoble, France; (W.F.); (Q.B.)
2 Laboratoire de Phytochimie et de Pharmacologie, Département de Chimie, Université de Jijel, Jijel 18000,
3 L’Occitane en Provence, 04100 Manosque, France;
4 Institut de Biologie et Chimie des Protéines UMR5305—LBTI, CNRS, 69367 Lyon, France;
5 Department of Anesthesiology and Critical Care Medicine Division, Washington University School of
Medicine, St Louis, MO 63110, USA;
6 INSERM, U1148, and Hopital Bichat-Claude Bernard, 75018 Paris, France;
* Correspondence:; Tel.: +33-4-76-63-75-39


The only article describing the stimulation in vivo of the protection and synthesis of elastic fibers.

Full article :




(European Journal of Human Genetics : “ Patient Journeys” : improving care by patient involvement

Rare Skin Disorders are gathered together in the European Reference Network-Skin. Those disorders have multiple common points: late diagnosis, none or few treatments, difficulties facing other people’s gaze, etc. The burden those difficulties represent is not always known by healthcare professionals. The Patient Journey is too often an Assault Course.

In order to help healthcare professionals better understand that burden, better manage it and thus give patients a better quality of life, patients must, themselves, evaluate their journey and make it known.

This is why patient representatives in all ERNs will circulate an evaluation grid to all patients.  This « Patient Journey » grid gathers together the different stages that are inherent to each disease. Then each stage is described in 3 levels : Clinical presentation, challenges and needs identified by the patient, goals to improve care. The grids are then reviewed by both patients and professional experts.

Finally, this grid of the “Patient Journey” will allow patients to discuss their individual needs with only one aim : to improve care and quality of life. The “Patient Journey” will also be an important element in sharing knowledge from both patient’s and healthcare professional’s points of view.

WHO (World Health Organisation) signs a memorandum of understanding with Rare Disease International (RDI).

WHO (World Health Organisation) signs a memorandum of understanding with Rare Disease International (RDI).

According to this memorandum, the activities carried out as part of this agreement to collaborate will include goals and actions timed around WHO 13th Programme of Work that runs until 2023.

In the first year, they will focus on harmonising the way rare diseases are defined internationally and on laying the ground for the development of a global network of centres of excellence for rare diseases

(© RDI newsletter 2019.12.19)

Rare Diseases are included in Universal Health Coverage (UHC)

At last Rare Diseases are included in the United Nations political declaration on Universal Health Coverage (UHC)

On 23rd September, two years of active advocacy by Eurordis and Rare Disease International were crowned with succes as the 193 member states of the United Nations adopted a historical political declaration on UHC including rare diseases.

The principles of UHC state that all individuals and all communities must have access to the health services they need without any financial hardship.

(©eurordis newsletter 2019.12.11)