CUTIS LAXA : News
ERN-Skin ANNUAL BOARD MEETING
13th January 2023 :
ERN-Skin Board Meeting.
2023 is a transitional…
ERN-Skin Board Meeting.
2023 is a transitional…
A NEW MUTATION : EMILIN1
Adamo et al. describe a cutis laxa syndrome caused by bi-allelic…
Youtube with “Tibo InShape”
New video
Cécile was interviewed by #Tibo InShape on his youtube…
Cécile was interviewed by #Tibo InShape on his youtube…
Good-Bye ERIC
I am so very sad to announce that Eric MOLINIE left this world…
4th National Conference of the French Federation for Skin (Videos)
Watch the videos of all the presentations (in French)
…
…
New Patients
Cutis Laxa Internationale now gathers 517 patients coming from…
UKRAINE
As war still goes on, Ukraine faces a humanitarian crisis and…
GOOD-BYE
Time to go home….. It is so hard to leave each other.
…
…
Breaks and Fun Times
SYMPOSIUM LUNCH BREAK
CHILDREN GAMES
BOAT…
CHILDREN GAMES
BOAT…
Diner Times
PIZZAS
CHINESE WOK
FESTIVE DINER
CHINESE WOK
FESTIVE DINER
Gathering beyond continents…. Patients, Moms and Dads
Prof. Dr. Christine Bodemer, MD (Paris, France) : Embedding CL in ERN Skin & ERN-Ithaca
The European Reference Networks (ERNs) set up by the European…
Mrs Klára Farkas, MD (Budapest, Hungary) : Potential applications and value of novel skin imaging techniques in connective tissue disorders
In this presentation we introduce novel imaging techniques including…
Dr. Laura Muiño Mosquera, MD (Ghent, Belgium) : Cardiovascular Follow-up in CL
Cutis Laxa disorders usually present cardiovascular issues…
Prof. Dr. Bert Callewaert (Ghent – Belgium) : CL Classification and Guidelines for Global Management
This new classification will simplify the diagnostic process…
16th September 2022 – Collaboration in Recherche
The aim of this event dedicated to research was to set up collaborative…
13th and 14th September CLINICS
Pr Bert Callewaert, Dr Karolien Aelbrecht, Mrs Deborah Wille…
Dr. Karolien Aelbrecht (Ghent, Belgium) : Patient participation : a cornerstone !
Although the concept of patient participation still lacks of…
Mrs Elif Yilmaz Gulec, MD (Istanbul, Turkey) : Cutis Laxa in Turkey : Challenges, Opportunities and Collaborations
Our Cutis Laxa patients are usually referred to us during neonatal…
Mrs Marie-Claude Boiteux (Chair Cutis Laxa Internationale – France) : Patients’ and Caregivers’ Perspectives : Patient Journeys
The « Patient Journey » is a personal testimony that reflects…
Prof. Dr. Zsolt Urban (Pittsburgh, USA) : American Cutis Laxa Clinics
The study lead by Mrs Pooja Solanki from Pr Urban’s team is…
Dr. Björn Fischer-Zirnsak (Berlin, Germany) : The Mitonchondrion and CL
The best known function of mithocondria is energy production…
Dr. Thatjana Gardeitchik, MD (Nijmegen, the Netherlands) : Neurometabolic Defects in CL
The underlying molecular defects in Cutis Laxa Sybdromes can…
Prof. Dr. Uwe Kornak, MD (Göttingen, Germany): The Secretory Pathway, Glycosylation, and Cutis Laxa
Secreted proteins and membrane proteins have to pass through…
Mrs Aude Beyens, MD (Ghent, Belgium): Structural defects of Connective Tissue Proteins and CL
Elastic fiber assembly, or elastogenesis, is a complex process…
Prof. Gerhard Sengle (Köln, Germany): Matrix Biology – What can we learn from animal modelling ?
Understanding how the fine tune mechanisms of elastic fibers…
Other Events in 2022
1st February: Pharmaceuticals Seminar
10th April : Our…
10th April : Our…
Rare and I live with it
Cécile was interviewed by Handicap.fr for their new podcast
"Rare…
"Rare…
Handicap.fr – Podcast « Rare Disorder and I live with it » episode 9 : Cécile’s testimony
Read this article (in French)
Listen to the Podcast…
Listen to the Podcast…
CLI at the Dermatology Days of Paris
29th November – 3rd December 2022 :
Dermatology Days of Paris…
Dermatology Days of Paris…
Daily newspaper « Charente Libre » : The Triathlon of Sireuil presented CLI with a cheque
Read this article (in French)
Canal JDP
On 3rd December 2022, during the Dermatology Days of Paris (JDP),
organised…
organised…
Weekly newspaper « Télé7jours » : Sophie Davant remembers the 10th Cutis Laxa patient discovered during Telethon 2001.
read this article (in French)