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

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.

Transmission and testing during pregnancy in case of a genetic disorder

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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.

Physiotherapy and Cutis Laxa

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Dr Inge DEWANDELE

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

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Dr Lana HOEBEKE

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

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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 ?

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Dr Romain DEBRET

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.

CUTIS LAXA PATIENT JOURNEYS

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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

 

Pregnancy and Family Planning in Rare Disorders

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Orphanet Journal of  Rare Diseases published the results of the survey for healthcare professionals « Pregnancy and Family Planning in Rare Diseases”

(read the publication)

 Written by the European Reference Networks (ERNs) transversal working group that brings together patient representatives (EPAGs) (of which Marie-Claude Boiteux) and healthcare professionals (HCP) from 20 ERNs . After identifying 7 transversal domains to be explored in the survey (Fertility preservation, Pre-conceptional counseling, Family Planning counseling, Pre-implantation diagnosis, Prenatal diagnosis, Pregnancy monitoring, Post pregnancy monitoring/ lactation monitoring/counseling/newborn management), the group established closed and open-ended questions for each domain. These questions explored the level of importance, the activities performed by the center, the clinical challenges, the good practice and the educational activities related to the selected topics.

HCP, from 24 different countries answered the survey.

“Pre-conceptional counselling” and “pregnancy monitoring” were mentioned as important/very important at 83.3% and 75.6%, respectively. And « Family Planning Counselling » was considered very important/important at 71,6%.

The conclusions of this survey are pointing unmet needs for HCPs, including the need to improve communication between different HCPs, the lack of predefined organizational pathways, the lack of availability of expert HCPs for some pregnancy-related issues and the need to streamline the care provided among different European countries.

In addition, the survey underlined the need to improve the educational activities provided to ra

re disease patients.

Overall, the results pointed out the need to educate both physicians and patients on the basis of the emerging unmet needs. Online resources can be an excellent educational tool, they may help in disseminating and standardizing educational activities in order to homogenize the information for HCPs and patients.

Therefore, initiatives in this direction by scientific societies, ERNs and patient associations should be promoted and encouraged

A second questionnaire had been sent to patients. The answers are being analysed and should be soon published. It will then be possible to compare HCPs’ and patients’ views.