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..….

 

RARE DISEASES INTERNATIONAL (RDI) ANNUAL GLOBAL MEETING

Rare Disease International (RDI) Annual Meeting and Conference, was held on 19th May, online as many others. Here are some screenshots of that important event we attended online from CLI’s home/office.

RDI and WHO : Universal Health Coverage and Rare Diseases

ORPHACODES : Universal name for each disease

RDI Action Plan 2020-2021

Rare Disease Patients and Covid-19

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.

COVID-19 PANDEMIA

PATIENTS WITH RARE CUTANEOUS DISORDERS ASSOCIATED WITH  RECOGNISED PULMONARY SYMPTOMS AND/OR MANIFESTATIONS ARE AT RISK

i.e. patients with abnormalities of the connective or elastic tissue, patients with severe denutrition, patients with severe scoliosis and respiratory insufficiency, etc.

HAVE THE SAME RECOMMANDATIONS AS ALL AT RISK PATIENTS SUFFERING FROM A RARE DISORDER.

AND REMEMBER TO :

  • Wash your hands as often as needed
  • Sneeze and/or caugh in your elbow and use a disposable tissue
  • avoid shacking hands and huging
  • Keep a one meter distance from others

 

 

Does “Gaston Lagaff”, cartoon character, have Ehlers-Danlos Syndrom ?

Humorous, but very serious

Pr Mickaël Dinomais, Professor in Physical and Readaptation Medicine, at the University of Angers (France), published a very interesting article.

He studied the famous French cartoon character “Gaston Lagaff” and, considering all the clinical features and symptoms, could diagnose that he suffers from Ehlers-Danlos Syndrom.

This is a very interesting and entertaining way to describe a disorder.

Read the all article, in French, at :

http://theconversation.com/gaston-lagaffe-a-t-il-un-syndrome-delhers-danlos-130907

 

FIMARAD VIDEOS

YOUTUBE CHANNEL FOR RARE DERMATOLOGIC DISEASES

 

The French Network for rare dermatologic diseases has launched its youtube channel wher are posted videos about various issues (French talking):

Aesthetic Disability  

https://www.youtube.com/watch?v=WO0FlVQ1B2k

 

Local Houses for Disabled People (MDPH)

https://www.youtube.com/watch?v=WO0FlVQ1B2k

 

Corrective Make-up

https://www.youtube.com/watch?v=US7frbb9atw

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

 

THE PATIENT JOURNEY

THE PATIENT JOURNEY

(European Journal of Human Genetics : “ Patient Journeys” : improving care by patient involvement https://www.nature.com/articles/s41431-019-0555-6)

Rare Skin Disorders are gathered together in the European Reference Network-Skin. Those disorders have multiple common points: late diagnosis, none or few treatments, difficulties facing other people’s gaze, etc. The burden those difficulties represent is not always known by healthcare professionals. The Patient Journey is too often an Assault Course.

In order to help healthcare professionals better understand that burden, better manage it and thus give patients a better quality of life, patients must, themselves, evaluate their journey and make it known.

This is why patient representatives in all ERNs will circulate an evaluation grid to all patients.  This « Patient Journey » grid gathers together the different stages that are inherent to each disease. Then each stage is described in 3 levels : Clinical presentation, challenges and needs identified by the patient, goals to improve care. The grids are then reviewed by both patients and professional experts.

Finally, this grid of the “Patient Journey” will allow patients to discuss their individual needs with only one aim : to improve care and quality of life. The “Patient Journey” will also be an important element in sharing knowledge from both patient’s and healthcare professional’s points of view.