FIMARAD – ANNUAL MEETING
25th-26th November
FIMARAD (French Network for Rare Skin Disorders) Annual meeting
the results of the different workgroups showed the improvments still needed.
ERN-Skin EXECUTIVE COMMITTEE
23rd November 2021
ERN-Skin Executive Committee
Taking stock of the actions and improvements achieved in 2021.
Online training courses, using the CPMS consultation platform,
setting up registries and specific activities for each thematic group were the strong points for ERN-Skin.
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.
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/
CUTIS LAXA PATIENT JOURNEYS
We have developped 2 patient journeys based on testimonies from our members on what it is like to live with a Cutis Laxa.
Those documents aim to be a tool for health care professionals and patients during a consultation to help them agree on the best possible care on a long term basis.
They will be updated as often as needed to fit with the patients’ daily life and the most recent findings and treatments.
CUTIS LAXA WITH ARTERIES AND LUNGS SYMPTOMS
CUTIS LAXA WITH NEURO AND SKELETON SYMPTOMS
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
RARE SKIN DISORDERS AND COVID-19 : An observationnal study
RARE SKIN DISORDERS AND COVID-19
An observational study was initiated by the European Reference Network ERN-Skin and the French Health Network for Rare Skin Disorders (FIMARAD) :
« COVID-19 and rare skin diseases. European observational study (data research) during an epidemic”.
It concerns paediatric and adult patients with rare skin diseases and suspected or confirmed COVID-19 infection who consulted a medical team that is part of the ERN-Skin or FIMARAD. Professor Christine BODEMER (Hôpital Necker-Enfants Malades – Paris, France christine.bodemer@nck.ap-hop-paris.fr ) is the principal investigator..
The main objective of this European observational cohort study (research data) is to determine the impact of a COVID-19 virus infection in a cohort of patients with rare skin diseases and particularly whether these rare diseases and their treatments are risk factors of infection severity
Acquired Cutis Laxa associated with monoclonal gammapathy or multiple myeloma
A possible improvment of the symptoms in Acquired Cutis Laxa associated with monoclonal gammapethy or multiple myeloma:
A haematologist from Sao Paulo (Brasil) has had very satisfactory results in two cases with an autolog bone marrow transplant.
For those two patients the results were more than encouraging though we certainly cannot talk about treatment or cure yet.
Many studies and therapeutic trials are still necessary to get there.
Nevertheless this is a huge leap for those patients