WHAT IS AN ERN (European Reference Network) ? (Videos)

Set up 3 years ago by the European Commission, they aim to help patients with rare disorders receive a right diagnosis and follow-up, gather together all European experts and Patients Organisations to allow patients to get the best care.

The European Commission, Patients and ERN Coordinators give their point of view

European Commission (in almost all European Languages)


Patients (in English and/or with English subtitles)


ERN Coordinators (in English and/or with English subtitles)


Acquired Cutis Laxa associated with monoclonal gammapathy or multiple myeloma

A possible improvment of the symptoms in Acquired Cutis Laxa associated with monoclonal gammapethy or multiple myeloma:

A haematologist from Sao Paulo (Brasil) has had very satisfactory results in two cases with an autolog bone marrow transplant.

For those two patients the results were more than encouraging though we certainly cannot talk about treatment or cure yet.

Many studies and therapeutic trials are still necessary to get there.

Nevertheless this is a huge leap for those patients



A scientific study on Acquired Cutis Laxa (ACL) is led by


Center for Medical Genetics – Ghent University Hospital

De Pintelaan 185 – B-9000 Gent

Email : Bert.Callewaert@Ugent.be

This type of Cutis Laxa has never been studied before.

It is a great opportunity to learn more about it : how it appears, what are its causes and maybe a first step to treatment.

Worldwide patients with ACL can take part in it. The doors of hope are opening up for them.



Caetano, Tamapa, Defne, Tami,Yusuf, Tracey, William, Atay Robin, Sunusi, Hanna, Umar, Jo, Sarah, Talita, Randi, Carol, Eli, Gina, Sonia, Maria, James, Ayyaz, Mariya and Oluhle have joined us since the beginning of 2020.


Koweit, Dubai, Sierra Leone, Nigeria and South Africa are the additional colors on our map of world..


We now gather together 440 patients worldwide. Of them, 18,6 % have a Dominant type (ADCL) , 17,1 % a Recessive type (ARCL), 22 % an Acquired one and 40% do not know, or not yet, their exact type. The other types (MACS, OHS, GO,…) represent 2,3% of the total.


The French Skin Federation (FFP) has launched videos (in French) from its member organisations on youtube.

Listen to Marie-Claude Boiteux talking about Cutis Laxa Internationale


Patients’ and associations’ role is poorly recognised

The COVID crisis reveals how patients’ and associations’ role is poorly recognised (Newspaper Le Monde 2020.07.06)

In this newspaper article, three members of the French association Renaloo (kidney failure) make an unanimous  statement : Associations of Health Users were forgotten in the heart of the sanitary crisis :

  • There were no official recommendations for « at risk » people.
  • Associations had to establish themselves « Recommendations for patients » based on international recommendations or those from other countries. ;
  • Nothing was set up to allow « at risk » people to stop working as soon as the crisis started ;
  • Cooperation with patients and their associations was considered incidental and with no priority ;
  • Despite the collective stakes we all had to face, democracy in health suffered a lot ;
  • Never quoted as being part of the various parties committed to protect vulnerable people, nevertheless patient associations were working on all fronts during this period ;
  • In France, except a few cases, patients associations have not yet reached the place they deserve in the medical world;
  • Government communication about vulnerable people focuses only on older aged people and forgets young and active people who are fragile too.


Nothing should be done without Us !


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..….


Dawn Laney, a RARE Hero

In its issue N°15, April 2020, Rare Revolution Magazine, talks about Dawn Laney, Dave Jacob’s daughter, who set up Thinkgenetic with her father. Dave is one of our members.

David Ross, a RARE revolutionary

In its issue N°15, april 2020, Rare Revolution Magazine publishes an interview with David Ross, one of our members.


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