12th June :
International Forum of Dermatology organised in Lisbon by Pierre Fabre Laboratories. Marie-Claude Boiteux’s talk about the results of the study on Tele-expertise in Dermatology in Bourgogne Franche Comté had been registered beforehand as she couldn’t attend in person.
Orphanet is a netw ork spreading over 40 countries in Europe and beyond.
The site is accessible for free in 9 languages.
28 million pages were visited in 2025.
6,622 rares disorders with a unique identifier : ORPHA Code.
25,883 healthcare professionals referenced,
2,798 patient organisations and 31 National Alliances of rare disorders,
8,512 Expert Centers,
31,742 Diagnosis Tests,
5,605 Patient Registries,
181 biobanks ,
1,013 medical laboratories dedicated to diagnosis, …..
and so many other ressources….
20th May :
Rare Disease Internationale (RDI) had organised an event in Geneva ,
on the occasion of the 79th World Health Assembly (WHA).
Following the adoption, last year, of the resolution for Rare Disorders, it is now necessary to work on the Global Action Plan (GAP) that will implement the recommendations of the resolution.
21st May:
The next day, still in Genève, but this time in the World Health Organisation (WHO) building,
Globalskin had the opportunity to talk in the parallel session « From Resolution to Action : Implementing WHA Resolution on Skin diseases » 
organized by the WHO to hear patient organisations’ voices.
It was an honor to attend it together with ERN-Skin and Globalskin members.
20th, 21st and 22nd march
The « Glisse en cœur » days were busy.
In the beautiful ski area of Le Grand Bornand (France) 24 hours of skiing was dedicated to children’s associations.
We had had the great luck to receive €6,000 in November 2025 to help us fund the Cutis Laxa Days.
In March 2026 we were thus present, with volunteers on the tracks to support and encourage all those thanks to whom this amount had been given to us.
After a bright sunny first day, the last relay skiers went down the slope under snowfall.
Two days of joy, solidarity and support for associations.
Dr Ilse MEERSCHAUT
According to a study of 469 patients with CL, cardiovascular disorders are present in 50 to 80% of these patients , mainly tortuosity, arterial aneurisms or arterial stenosis. Several types of Cutis Laxa are specifically concerned : mutations FBLN4, SLC2A10, LOX et EMILIN1 with aortic and main aortic branches tortuosity and mutation ELN with multiple heart valve disorders.
All these types need a specific cardiovascular follow-up. When suspecting one or the other type with those mutations in the new classification, it is mandatory to organise this follow-up without any delay.
Blood pressure must be controlled, and it is also necessary to evaluate and follow up closely any heart or vascular trouble (echocardiography, MRI of the heart, MR/CT angiography head to pelvis).
The frequency and age for these tests must be carried out depending on the type of CL. Difference in necessary follow up depending on genetic mutations demand gene-specific guidelines to be established for each known mutation.
Pr. Bert CALLEWAERT
This type of Cutis Laxa still remains the worst known. Not included in the genetic forms, it can nevertheless be said that there is a predisposition to develop it or not.
If, for a long time, we have been talking in a general way about Acquired Cutis Laxa Acquise, today we know that there are at least two different types, depending on the context in which it starts and the clinical signs it induces.
Unlike the genetic types that show a defect on various stages of the « creation » of elastic fibers, Acquired Cutis Laxa shows as a destruction of those fibers. It is therefore a different process resulting from either an inflammatory or an autoimmune context. A lot remains to be discovered about Acquired Cutis Laxa Acquise but one must keep in mind that :
Dr A.Beyens presented the long piece of work that analized the different symptoms of all Cutis Laxa types. The files from the 192 patients of the in house cohort studied by Pr Bert Callewaert’s team as well as the cases published in literature were screened by Artificial Intelligency (AI) in order to group major symptoms from all types.
623 files were thus analysed. Clinical and molecular features, plus 290 parameters were taken into account which allowed AI to define 6 groups which share clinical ad pathophysiologic features : Skin, Cardiovascular, Pulmonary, Bone, Glycosylation and Mithocondrial. Moreover, these groups show significant differencies in the elastic fibers degradation.
Thanks to this study, it is now possible to build a decision tree (CART Algorithm) that, depending on the clinical and pathophysiological signs, can determine a suspicion of the type of Cutis Laxa from which the patient is suffering.
The results obtained have a reliability of nearly 90%. This does not diminish the need for genetic/molecular testing to confirm this suspicion. But, it allows to immediately organize the care and follow up needed depending on the type, without waiting for the 6 to 8 months needed for the genetic test results. It is a significant improvement to diagnostic delay and improved care for the patients.
We are so sad, our Big Cutis Laxa Family has just lost two of its youngest members, Oceane and Rory.
It is never acceptable to see our children die so young.
All our thoughts to their parents and families.
Vonda left us too on 1st January 2026. She had joined CLI in 2009 and was diagnosed with ACL.
Rest In Peace Vonda.
Sara and her sister Abeer, Bennett, Tucker, Eileen, Youssef, Ella, Catarina, Rory, Malak, Carolina and Gabriel joined us over the last six month. Including them, there are now 581 patients worldwide who our Big Cutis Laxa Family helps, supports and accompanies in their search for answers to their questions.
We also sometimes know about other patients, especially when they take part in reports posted on social media. Thanks to BBC Africa, this is how we knew about an African family. Unfortunately, despite our approaches to the channel, the doctors interviewed and the directors of this report we couldn’t contact them or, at least, let them know we are here. I am so sorry about that.
Dr Candy KUMPS et Dr Sofie SYMOENS
For all young people with Cutis Laxa, girls or boys, parenthood raises many questions: Can I transmit my disease? How? What are the risks? In the event of pregnancy, can I find out if my future child could be affected? etc.
All these questions and many others are rarely highlighted in multidisciplinary consultations for rare diseases. We were fortunate at this conference to have Dr. Kumps and Dr. Symoens address them clearly. To begin with, they recalled the differences in transmission depending on whether the disease is dominant or recessive. These differences imply a percentage of risk from simple to double.
They then moved on to the process and procedure of a preimplantation analysis in the event of a known mutation, when future parents wish not to transmit the mutation. It is a process that can last about 5 months with 40% success of a viable pregnancy after implantation of the embryo.
