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

cmgg-Pr Bert CALLEWAERT

RESEARCH ON ACQUIRED CUTIS LAXA

A scientific study on Acquired Cutis Laxa (ACL) is led by

Pr Bert CALLEWAERT

Center for Medical Genetics – Ghent University Hospital

De Pintelaan 185 – B-9000 Gent

Email : Bert.Callewaert@Ugent.be

This type of Cutis Laxa has never been studied before.

It is a great opportunity to learn more about it : how it appears, what are its causes and maybe a first step to treatment.

Worldwide patients with ACL can take part in it. The doors of hope are opening up for them.

ERN-Skin Board Meeting

On 2nd october 2020, ERN-Skin held its annual Board meeting, online, due to the pandemic. We missed individual discussions but appreciated the very interesting presentations:

2020 success and clinical practice guidelines

Covid-19 observational study                          SPOT 2021 steps

Cutis Laxa success

 

Patient Representatives work in 2019/2020

ERN-SKIN TRAINING SESSION IN GHENT (Belgium)

16th December : ERN-Skin, training session in Ghent (Belgium).

Organised by Pr Bert Callewaert, this session included a whole chapter dedicated to Cutis Laxa and all the scientific progress about it. See below  “What’s new about Cutis Laxa».

Other pathologies were also presented and patients representatives took part in a panel discussion « Patients’ burden : What healthcare professionals need to know ? ».

What’s new about Cutis Laxa

 

During the training session in Ghent, the first part of the morning was almost totally dedicated to Cutis Laxa.

Several cases were presented by young doctors.

 

An overview talk on Cutis Laxa presented the clinical classification of Cutis Laxa disorders. Cutis laxa has an extensive clinical and molecular heterogeneity.

 

Based on a flowchart addressing the presence or absence of the main clinical symptoms, over 90 % of the people suffering from Cutis Laxa are correctly classified.

The main symptoms are: arterial tortuosity, emphysema, wrinkled/lax skin, neurological issues with or without intrauterine growth retardation (IUGR). In addition to those main symptoms, minor criteria are suggested for each type: arachnodactyly, aortic aneurysm, aortic stenosis, respiratory distress, diverticula, hearing loss, large anterior fontanelle, joint contractures, hip dislocation or ataxia.

The classification was based on a ‘learning’ cohort of patients known to the Ghent University Hospital. Refinement of the classification is ongoing based on a confirmation cohort from literature (650 patients).  Patients are classified based upon clinical examination and the main symptoms into major groups. Further refinement based on the minor criteria will eventually be able to predict the causal gen in over 95% of patients.

As an example, a patient with a lax skin, neurologic issues, intrauterine growth retardation as well as hip dislocation and ataxia, associated with ALDH18A1 mutation, will be diagnosed with Autosomal Recessive Cutis Laxa Type 3 or Syndrome De Barsy (ARCL3).

This new classification will help to a quicker diagnosis, interpretation of next-generation sequencing data and provide an opportunity of specific management and care for each type of Cutis Laxa.

Ghent University welcomed this session in its historic buildings.

Pure marvel, as is all the city of Ghent..….

 

EUROPEAN CONFERENCE ON RARE DISORDERS

European Conference on Rare Disorders (ECRD) on 14th and 15th May which gathered together over 1,500 people from 57 countries, was held online as many other event in 2020.

Even without face to face meetings and gathering it was a real success and we learnt so much.

Dill Extract Induces Elastic Fiber Neosynthesis

Dill Extract Induces Elastic Fiber Neosynthesis and Functional Improvement in the Ascending Aorta of Aged Mice with Reversal of Age-Dependent Cardiac
Hypertrophy and Involvement of Lysyl Oxidase-Like-1

Wassim Fhayli 1, Quentin Boëté 1, Nadjib Kihal 2, Valérie Cenizo 3, Pascal Sommer 4,
Walter A. Boyle 5, Marie-Paule Jacob 6 and Gilles Faury 1,*
1 Univ. Grenoble Alpes, Inserm, CHU Grenoble Alpes, HP2, 38000 Grenoble, France;
wassimfhayli@gmail.com (W.F.); boete.quentin@gmail.com (Q.B.)
2 Laboratoire de Phytochimie et de Pharmacologie, Département de Chimie, Université de Jijel, Jijel 18000,
Algeria; nadjib.kihal@icloud.com
3 L’Occitane en Provence, 04100 Manosque, France; val.cenizo@gmail.com
4 Institut de Biologie et Chimie des Protéines UMR5305—LBTI, CNRS, 69367 Lyon, France;
pascal.sommer@univ-amu.fr
5 Department of Anesthesiology and Critical Care Medicine Division, Washington University School of
Medicine, St Louis, MO 63110, USA; boylew@wustl.edu
6 INSERM, U1148, and Hopital Bichat-Claude Bernard, 75018 Paris, France; marie-paule.jacob@orange.fr
* Correspondence: gilles.faury@univ-grenoble-alpes.fr; Tel.: +33-4-76-63-75-39

 

The only article describing the stimulation in vivo of the protection and synthesis of elastic fibers.

Full article : http://www.cutislaxa.org/wp-content/uploads/2020/02/Fhayli-et-al-2020-biomolecules-Dill-mice1.pdf