Welcome

New Patients, New Families

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.

Transmission and testing during pregnancy in case of a genetic disorder

Dr Candy KUMPS et Dr Sofie SYMOENS

see the presentation

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.

Physiotherapy and Cutis Laxa

Dr Inge DEWANDELE

see the presentation

Our joints allow our body to move: waking, climbing up and down, kneeling, eating, washing, writing,etc, all these actions solicit our body and our 4 limbs. Hypermobility or weakness of our joints lead to poor positioning and bad postures. Muscle strengthening and physiotherapy can overcome these difficulties.

However, not all sports are accessible to patients with Cutis Laxa due to other associated symptoms. Thus, for patients with cardiovascular disorders, certain sports are too demanding and not recommended. There are alternatives and the choice of sport must take them into account.

Ophtalmologic issues in Cutis Laxa

Dr Lana HOEBEKE

 See the presentation

Elastic Fibers are present in almost all parts of our body, all our organs.  Their absence, degradation or malfunction may then have consequences at all levels. This is how our vision can be impacted by Cutis Laxa.

Dr Hoebeke explained how eyes are functionning and how Cutis Laxa can alter it.

It is at the level of the cornea that the elastic fibers intervene to maintain its shape thanks to an element that could be compared to a trampoline.  The appearance of glaucoma and macular degeneration are all possible consequences of Cutis Laxa in ophthalmology. This is why preschool children must be tested early. In case of absence of signs, the evaluation must be made every 3 years.

Study about Teleexpertise in dermatology in a French region

TeleExpertise in dermatology

Marie-Claude Boiteux led a study  with the French Federation for Skin and ARS-BFC (Regional Agency of Health in Bourgogne-Franche-Comté) and supported by A-Fluence Consulting. Compensating for desertification in dermatology, allowing patients to have rapid access to a consultation when necessary, promoting the development of the skills of general practitioners, while participating in the care pathway, while this new tool is certainly not the universal panacea, it prevents symptoms from worsening and patients from missing opportunities.

Read the study (in French)

On 14th November 2025, the Regional Agency of Health (ARS-BFC) held the first conference dedicated to new ways to practice medicine thanks to new technologies at the Convention Centre of Dijon, Bourgogne-Franche-Comté. During these Regional e-Health Days , Marie-Claude presented the first results of this study in the roundtable dedicated to « Tele-Expertise ».

see the replay (in French)

Tropoelastin deposition to treat elastic fiber diseases ?

Dr Romain DEBRET

See the presentation

25 years ago, when we founded Cutis Laxa Internationale, access to a therapy seemed to be an unaccessible dream. Today thanks to researchers such as Romain Debret this hope is getting closer and therapeutic avenues are emerging.

After recalling the elements that make up the structure of Elastic Fibers, and the place that troposelastin holds in them, he shared the fruit of his labors: Creating a synthetic tropoelastin that could replace the faulty one in Cutis Laxa. In vitro results are encouraging.

Yet we are still far from a possible therapy for humans, but hope starts to take shape.

MAPPING RARE

28th February 

On the occasion of Rare Disease Day 2026, Rare Disease International opened the

« Mapping Rare » page on its website

(www.rarediseaseinternational.org/mapping rare/)

Cutis Laxa International  is in the spotlight.

When you click on the spot, you access to lots of information

Ahead of the official opening, Marie-Claude Boiteux, presented it during a webinar

 

CUTIS LAXA PATIENT JOURNEYS

NEW PATIENT JOURNEYS

We have developed 2 patient journeys based on testimonies from our members on what it is like to live with a Cutis Laxa.

Those documents aim to be a tool for health care professionals and patients during a consultation to help them agree on the best possible care on a long term basis.

The Patient Journeys have been updated recently to better fit with today’s knowledge on Cutis Laxa.

CUTIS LAXA WITH ARTERIES AND LUNGS SYMPTOMS

CUTIS LAXA WITH NEURO AND SKELETON SYMPTOMS

 

Poem for a woman diagnosed with Cutis Laxa

She had been told that it would be difficult

She had been told that her body would be a limit, that her rare disease would draw the contours of her life before she even had time to dream. The doctors spoke of caution. Some spoke of the impossible.

But she spoke of hope.

Her adolescence was not kind. The gazes, the judgments, the criticisms… She was sometimes reduced to diagnosis, as if she was just a medical label. We doubted her, her strength, her future.

Yet, behind the silences and tears, there was quiet determination. A desire to prove – not to others, but to herself – that her life is not dictated by fear.

The disease is there, yes. Real. Demanding. Sometimes unfair.

But she chose to fight. To heal herself, to listen to her body, to fall and get back up. She turned every doubt into a driving force. Each critic in energy. Every obstacle in learning.

She didn’t grow up despite the disease. She grew up with it.

Today she is married. She has children. She lives what she was told is uncertain, even unattainable. Not because everything was easy – but because she never stopped believing. It proved that a diagnosis is not a destiny, that a difficult adolescence does not define an entire life.

Her story is not one of a miracle.

It is that of a fight.

Of silent perseverance.

Of hope that was kept alive every day, even when everything seemed bleak.

And above all, it is proof that one can overcome predictions, judgments and despair…. When you decide not to give up.

Many Thanks to the anonymous writter of these words

25 Years ago……

A flagship show of the 1990s and 2000s, “Ça se discute” (“It’s debatible”) made its comeback sixteen years after the end of its broadcast on France 2. On RMC Life, channel 25 of the TNT, Estelle Denis succeeds Jean-Luc Delarue for shows that are as moving and captivating as ever.

On February 03, 2026, at the end of the show dedicated to eating disorders, Cécile Boiteux-Gueye was invited to talk about her journey since her participation in the show on September 12, 2001, when she was only 11 years old.

This very first program in which Cécile participated was the beginning of the great story of Cutis Laxa International because it is thanks to this program that other patients contacted us, that other programs took place with Cécile and that the patients, isolated, were able to get in touch with us.

There were 9 of us at the time, today there are more than 580.

Thank you “Ca se discute”