NEW MUTATIONS

Even if I cannot tell you more since publications have not yet taken place, I am very happy and proud of our researchers who work on Cutis Laxa :

5 NEW MUTATIONS have just been discovered.

For all patients whose precise type has not yet been identified, this is an extraordinary chance.

You can be tested now with the new mutations.

Attending the 6th Cutis Laxa Days in Ghent in September 2022  can be the opportunity for you to know more about the precise type you are suffering from.

ERN-Skin Activities

19th February : First ERN-Skin Scientific Day

114 doctors and researchers attended. Each thematic group presented the work done on the disorders they are concerned with.

For the Heritable Connective Tissue Disorders (HCTD), a study is taking place in the Netherlands to evaluate prevalence and severity of fatigue, pain, disability and global health for children and teenagers suffering from the most common HCTD.

Other topics were presented such as interconnections between nervous system and skin system, and also innovative methodologies

 

8th June : ERN-Skin Executive Committee

During this meeting  the agenda was very fully.

Marie-Claude Boiteux presented the epags’ work on « Patient Journeys » for each disorder concerned by ERN-Skin,

And then the Patients Satisfaction Survey, Registries,

e-learning,

the SPOT application,

Exchange programme,

Results of 2020

and organising, in Paris in 2022, the next Rare Skin Diseases World Congres –

these wide ranging questions showed ERN-Skin’s dynamism and how it implements concrete projects.

Cutis Laxa Videos …… N°7

Treatments and surgeries are the topics of our 7th video about Cutis Laxa

 

 

And don’t forget you can get subtittles in your own language.

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 a Rare Disorder in France

Orphanet has just edited its new study about rare disorders in France.

You can read here the whole study (in French)

Vaccination advices

A vaccination campaign against SARS-CoV-2 (COVID-19) infection has been organized at EU level in all European countries simuA vaccination campaign against SARS-CoV-2 (COVID-19) infection has been organized at EU level in all European countries simultaneously.

There is no reason for people with rare disease to avoid vaccination against SARS-CoV-2. Vaccination is important to protect the whole population as well as patients with rare skin diseases, although ultimately it remains the personal choice of each individual.

We particularly encourage vaccination for patients with disorders which may affect the immune system making complications of COVID-19. The currently available “mRNA vaccines” are dead vaccines and should not pose a risk to patients with immune deficiency and those undergoing immunosuppressive treatment.

Depending on the availability of other types of vaccines, in the future, new recommendations may be necessary.

Mendelian connective tissue disorders

There is no contraindication to vaccination against SARS-CoV-2 for patients with Monogenic connective tissue disorders.

Vaccination against COVID19 is important for the whole population including patients with connective tissue disorders. Although vaccination remains the patient’s choice, as it is the own choice for any citizen.

It could be strongly recommended for patients with connective tissue disorders, particularly for those with bad general condition, severe vascular and/or important lung involvement.

For detailed advice, don’t hesitate to contact the specialist who ensures your medical follow-up by email, fax or telephone.

©https://ern-skin.eu/vaccination-advices/