Cutis Laxa Videos …… N°4
Today I talk about the impact of the disorder in adulthood: love life, finding a job, etc.
and you can get subtittles in your own language :
Cutis Laxa Videos …….. N°3
Here is the third episode of our videos.
A painful and emotional memory…… receiving the diagnosis…….
and here is how you can get subtittles in your own language
Cutis Laxa Videos….. N°2
Here is the 2nd episode of the Cutis Laxa videos.
Marie-Claude Boiteux talks about “difference and psychological impact”
and here is how you can get subtittles in your own language
see you next week for episode N°3
Cutis Laxa Videos…… N°1
Here is the first of 8 videos edited by EwenLife on their Youtube Channel
Marie-Claude Boiteux explains what Cutis Laxa is and the different types.
It is in French, but here is how you can get subtittles in your own language
CUTIS LAXA WHITE BOOK
Since Cutis Laxa Internationale was set up, we have received many patients’ and parents’ testimonies.
They are now collected in a newly published book :
« Cutis Laxa, Story of a Rare Disorder, Patients’ testimonies ».
It is available in French, English and Spanish. We will send it to you on request, at €25 per copy.
Living with …. Cutis Laxa
The French monthly magazine “La Revue du Praticien” (The Medical Practitioner’s Journal) published an article on Cutis Laxa in its November issue.
Read the article here (in French)
6th CUTIS LAXA DAYS
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
WHAT IS AN ERN (European Reference Network) ? (Videos)
Set up 3 years ago by the European Commission, they aim to help patients with rare disorders receive a right diagnosis and follow-up, gather together all European experts and Patients Organisations to allow patients to get the best care.
The European Commission, Patients and ERN Coordinators give their point of view
European Commission (in almost all European Languages)
https://audiovisual.ec.europa.eu/en/video/I-193046
Patients (in English and/or with English subtitles)
https://audiovisual.ec.europa.eu/en/video/I-191813
ERN Coordinators (in English and/or with English subtitles)
A New Type of Cutis Laxa
In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa : Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.
New mutations (ATP6V1E1, ATP6V1A)
ATP6V1E1 or ATP6V1A, are the new mutations recently published by a team of researchers including, among others, les nouvelles mutations publiées par une équipe de chercheurs incluant, entre autres, Mmes Gardeitchik, Mohammed, De Paepe, Malfait and Morava as well as Messrs Kornak, Wevers and Callewaert, who are researchers we are in contact with.
Those mutations can be included in Autosomal Recessive Cutis Laxa type 2 (ARCL2). They lead to Glycosylation Abnormalities (CDGs).