Mental Health Figures in Rare Skin Diseases

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In June 2026, RareBarometer, Eurordis’ polling organisation, published the results of the survey conducted in 17 European countries from 11th September to 14th December 2025. 130 people representing 13 rare skin diseases responded.

The figures speak for themselves:

  • 7 out of 10 people living with a rare skin disease and their families report poor mental health.
  • 50% report moderate to severe depressive symptoms (8 times more than the European population (6.1%))
  • 44% report significant clinical symptoms of anxiety (8 times more than the European population (5.4%))
  • 39% feel lonely (4 to 20 times more than the European population (2 to 10%))
  • 37% report suicidal thoughts in the last 6 months (6 to 12 times more than the European population (3 to 6%))
  • 48% report at least 2 severe mental health difficulties
  • 28% report at least 3 severe mental health difficulties
  • 14% report at least 4 severe mental health difficulties
  • While 76% say they need professional psychological support, only 46% receive it
      • 25% of a general practitioner or nurse taken care of
      • 21% of a professional not reimbursed, or paid by themselves (psychologist, psychotherapist, psychiatrist)
      • 17% of a professional fully or partially reimbursed (psychologist, psychotherapist, psychiatrist)
      • 11% of a Centre of Expertise (multidisciplinary care team specialising in rare or undiagnosed diseases)

Sireuil Triathlon

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13th June :

For its 20th edition, the Sireuil Triathlon ran was again dedicated to Cutis Laxa International. Always as festive, as sporty as ever, this faithful event by our side helps us to finance our projects.

Thank you to all the organizers, thank you to all the volunteers, thank you to all the runners.

International Forum of Dermatology

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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 in Figures

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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….

https://www.orpha.net/

(©Orphanews 2026.06.03)

79th World Health Assembly (WHA)

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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.

Skiing for the children

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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.

Cardiovascular problems in Cutis Laxa

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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.

Acquired Cutis Laxa

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Pr. Bert CALLEWAERT

see the presentation

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 :

  • The morphology of Elastic Fibers, the pathophysiology and the clinical presentation are intrinsically linked,
  • An inflammatory response/autoimmunity can result in the degradation of elastic fibers
  • The infiltration of immune cell is a hallmark of the degradation of elastic fibers in the acquired form
  • The Cathepsin V protein might be a new player in the degradation of elastic fibers

New classification of Cutis Laxa types

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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.

They left this world

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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.