Cutis Laxa : What’s new

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Cutis Laxa update

During the World Congress in Paris in June 2024, an update of the knowledge on Cutis Laxa was presented.

Pathophysiology of CL is represented as a defect of the elastic fibers. In the inherited forms, it is a defect of synthesis/assembly of elastic fibers, due to genetic mutations. When looking at the acquired form of Cutis Laxa, the process is different as it is instead a destruction of elastic fibers that were , at first, normal.

As of today, 18 sub-types have been identified in the inherited forms, together with related disorders such as Arterial Tortuosity Syndrome or MACS Syndrome. These identifications allow a new classification.

The forms with prominent connective tissue features (Tortuosity, Skin, Bones, Emphysema) and those with main neurological features with or witout intra-uterin growth retardation are still there. The validation of this new classification is still ongoing. It will be a better tool for diagnosis, integrating clinical data, ultrastructural findings and pathophysiology. It will be the basis for novel guidelines..

Infographics

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 5 % of the global population are suffering from a rare disorder

Equity for people living with a rare disorder means equitable access to diagnosis, treatments, care, social protection and opportunities

300 million people worldwide live with a rare disorder. That is equivalent to the population of the 3rd biggest country.

CONECT PROJECT

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After two years of hard work, the CONECT project (Cardio-Ocular Network for Connective Tissue disorders) has come to the end of its funding.

It was important to meet to thing about the future of CONECT and the funding it requires, but also about common projects that may concern some of  CONECT’s members. This is why we gathered together in Philadelphia 24th to 26th July.

Besides the pleasure to see us without any screen and sharing special moments, we had a whole day of work and reflection about future projects.

 

They are still in preparation, but I will certainly have the opportunity to let you know about them in future issues of CLI-News. It also was very important to exchange and see how our lives follow similar and parallel pathways.

The growing role of patient groups in healthcare research.

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Patient groups contribute to research in three different ways :

  • In clinical trials and real world evidence : The groups offer a unique perspective and act as research subjects, advisors, reviewers, and even researchers. They can be involved at any stage of clinical trials from the pre-approval and design to making sure the research results reach their patient community.
  • In Health Technology Assessment (HTA) : This is a systematic process that evaluates technologies like medicines and medical devices. The assessment determines if they are clinically effective, cost effective or have any social/ethical impact. Patients and patient groups are increasingly involved in the process, providing insight into their condition and the impact of new technologies.
  • In Regulatory decisions : Patient groups are involved in regulatory processes offering real-world evidence for better medical regulation. In Europe, their views are crucial for transparent communication on medicines and valuable input into the review of information on medicines like package leaflets and safety communications.

Read the article published by Patientview in February 2024 (in English)

ELASTICITY OF LIFE

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This is the title of the book recently published, in French and in English, by Dr Pascal SOMMER, Emeritus Research Director oat the French National Center for Scientific Research (CNRS).

He has been following Cutis Laxa and our association for more than 20 years.

The book is available online, printed or downloadable:

HERE

Understanding mothers’ experiences through narrative analysis

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A study was recently published in « Qualitative Health Research ». Even if this study was made for Prader Willy Syndrome, the results and recommendations that result can apply to any rare disorder. Researchers identified themes focusing on the complexity and rarity of the disorder, including the desire to be normal, how ordinary becomes extraordinary, isolation, behavior and normative standards, and alternative stories of mothering. Based on these results, four key recommendations could be established:

  • Recognition of the challenges of mothering a child with complexity;
  • Moving beyond functionality and impairment to participation and quality of life;
  • Considering anew how to tell the families stories and their need for support ;
  • Engaging with mothers to determine care priorities.

The findings of this study highlight how more qualitative research methods such as narrative analysis can be used in rare disease research to identify care and policy priorities to improve the lives of people living with a rare disease and their families.

(orphanews international 2024.02.13)

Distribution of CL according to Types and Countries

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Our census of  Cutis Laxa patients allows today to establish

its breakdown by known types and also by countries

You can find here the table updated on 2024, February 12th

Survey ALL

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Carried out between January and April 2023, together with EMMA Society, this international survey evaluates the prevalence (number of cases among a defined population), impacts, behaviours and needs of different skins and skin disorders depending on geographical areas, countries or complexion.

It included 50,552 participants (adults ≥16 yo) in 20 countries (China, USA, Brazil, India, Australia, France, Italy, Canada, Denmark, Germany, Israel, Kenya, Mexico, Poland, Portugal, Senegal, South Africa, South Korea, Spain and United Arab Emirates) distributed across the 5 continents.

It is therefore the biggest private database in  dermo-cosmetics.

Take a look at all the results on this page : https://www.changer-de-regard.com/#all

 

KAPCODE Study

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Marie-Claude Boiteux took part in writing a new scientific publication : « Testimonies, feelings, complaints and emotional experiences of patients suffering from dermatosis on social medias : French Infodemiologic* Study of patients’ uncensored words ».

Steming from a work led by Pierre Fabre Dermo-Cosmetic & Personal Care together with the society Kap Code specialised in the analysis of real-life data in health who listened for 3 years to patients’ uncensored words as publicly expressed on social media.

The internet offers a forum to those for whom the skin disorder bridles their social relationships. Through social media, they share their real-life experience and reveal what they do not say – because they do not dare to or because of lack of time – in medical consultations: Self-image, physical and psychological impacts, therapeutic roving, etc.

Collected, analysed and related verbatims, this work shows the emergency and need to « change our gaze on visible disorders of the skin”.  https://www.changer-de-regard.com/#ecoute-reseaux

 

*Infodemiology was defined by Gunther Eysenbach in the early 2000s as information epidemiology.It is an area of science research focused on scanning the internet for user-contributed health-related content, with the ultimate goal of improving public health. It is also defined as the science of mitigating public health problems resulting from an infodemic.