The underlying molecular defects in Cutis Laxa Sybdromes can also be roughly divided in two groups,
based on type of involved pathomechanism : defects in genes coding a « structural » ECM-component or in genes in which mutations can inborn errors of metabolism (IEM) presenting with Cutis Laxa.
The exact way these divergent molecular lead to elastin abnormalities remain unclarified.
Secreted proteins and membrane proteins have to pass through the secretory pathway, which is not only responsible for the transport to the correct cellular compartment, but also for the maturation and modification of these proteins. A central part of the secretory pathway is the Golgi compartment, which consists of several « pancake-like » membrane sacks (cisternae).
One important modification is glycosylation, which has been found altered in a whole group of Cutis Laxa disorders, that are also named congenital disorders of glycosylation (CDG).
Elastic fiber assembly, or elastogenesis, is a complex process that is precisely regulated in a spatiotemporal manner and depends on proper growth factor signaling and mechanosensing.
The underlying molecular defect in cutis laxa syndromes affect the synthesis and/or association associated extracellular matrix proteins.
Understanding how the fine tune mechanisms of elastic fibers formation is perturbed in the different types of Cutis Laxa is crucial to design molecular therapies in preclinical trials using animal models.
On 3rd December 2022, during the Dermatology Days of Paris (JDP),
organised by the French Society of Dermatology,
Marie-Claude Boiteux interviewed Pr Ludovic Martin for “Canal JDP”:
1st, 2nd & 3rd December 2021
For the first time this year we had a stall during the Dermatology Days of Paris.
With its conferences, pharmaceutic and cosmetic laboratories stalls, Associations’ village,
and e-posters, there’s no need to demonstrate the richness of those days.
It was the opportunity for many exchanges with health professionals as well as with association leaders,
all concerned by dermatology.
On 23rd February 2021, celebrating 2021 Rare Disease Day, Eurordis held the “Rare 2030 Final Policy Conference”.
Over 1100 participants representing all stakeholders groups of the rare disease community took part in this event, learning, exchanging and celebrating together.
Find here the Rare 2030 Recommandations
Have a look at Rare 2030 website
Cécile was diagnosed in 1992.
8 years later, she appeared for the first time on TV screens.
On 11th November 2001 we set up Cutis Laxa Internationale. But there was no research programm. We knew of 9 patients.
One month later, we appealled on TV screens during the Telethon (Fudraising event). We needed a 10th patient for a research programm to be launched.
Annie Moissin, who was responsible for relationship with patients for orphan disorders at that time, heard our call. She tells here (in French) what happened next.
Thanks to you Annie,
Thanks to Solhand of which you are now the Chair.,
One can do nothing alone, Together we are stronger, we go further.
Marie-Claude Boiteux
Chair of Cutis Laxa Internationale, Cécile’s mother
SAVE THE DATES
The 6th Cutis Laxa Days will be held at the University Hospital of Ghent( Belgium)
on 14th, 15th and 16th September 2022