Welcome

NEW CONTACTS, NEW FAMILIES

Cutis Laxa Internationale now gathers 501 patients coming from all parts of the world:

Kim, Amina, Nura Bay, Linda, Dawson, Riley, Cecelia, Rai, Sutton, Bodhi, Katia, Heather, Inter, Melany and her daughter Lilian, Husseini, Xenia as well as Samardashi, Arthur, Stacy, Amber and Ole joined us lately.

Our Big Cutis Laxa Family is glad to welcome them and give them all the help and support they need.

UNITED NATIONS AND INTERNATIONAL NEWS

16th December2021 The United Nations General Assembly voted the First Reloution for People Living With a Rare Disorder

After a first adoption by consensus in November, the final text became an official United Nations Resolution with the vote during the General Assembly on 16th December.

Rare Disease International, together with Eurordis and the Non Governemental Organisations (NGO) Committee for Rare Disorders advocated relentlessly with United Nations members to elaborate the resolution “Addressing the Challenges of Persons Living with a Rare Disorder and their Families”. This hard work  has now been rewarded.

 

and elsewhere

Australia :  Government is funding the « RArEST » initiative for 3 years with an amount of $ (AUD)  1.9 million. This initiative is led by Universities and the Federation « Rare Voices Australia », to improve Education, Support and Training courses for Rare Diseases . (©Orphanews 16th  November 2021)

The UN calls on France to completely change its idea of disability. They especially tackle  too « medical » approach and « systematic » institutionalisation. (© Hospimédia)

Ratification of the African Medicines Agency (AMA) Treaty. One of its priorities will be to act against sub-standard and fake medicines.

And also, the First African Summit on Rare Diseases was held in Accra (Ghana) on 1-3 December. The main theme was to engage in a dialogue between all stakeholders in the national and regional rare disease eco-system in Africa. (©Orphanews 2nd December 2021)

In the USA : Establishment of 31 Centres of Excellence for Rare Disorders. They will cover several specialties and provide rare disease patient education, training courses for physicians, and will contribute to enhanced research on rare disorders by promoting collaboration in this field. (©Orphanews 02 Décembre 2021)

In Italy : Adoption of a National Law for Rare Diseases. This law provides a definition of rare diseases as one with a prevalence of less than five patients per 10 thousand. This definition fits in with the one used at the European level. The law also provides for the establishment of a National Committee for Rare Diseases within the Ministry of Health. (©Orphanews 2nd December 2021)

NEW MUTATIONS

4 new genetic mutations were recently found:

 

LOX : This gene of the 5-Lysyl oxidase family is involved in initiating of cross-linking of Elastin and Collagen. The mutation leads to cardiovascular, respiratory and bone symptoms, especially fractures. This is why it was initially considered to be a new type of osteogenesis imperfecta (glass bones disorder). But the discovery of fragmented elastic fibers allowed this mutation to be included in Cutis Laxa Syndroms. It is a recessive form.

 

EFEMP1 (Fibulin3): The consequences, besides lax skin, of this mutation are multiple hernias and joint hypermobility as well as mild intellectual/learning disability. It is a new recessive type of Cutis Laxa.

 

LTBP1 : This mutation is distinguished by lax skin, inguinal hernias, craniofacial dysmorphology, various heart defects and prominent skeletal features (short stature, brachydactyly, craniosynostosis,..). It is another new recessive type of Cutis Laxa.

 

PI4K2A : This 4th new mutation is characterised by the following clinical signs : lax skin, involuntary movements (neurological issue), dysmorphism and intellectual/learning disability. It is also a recessive type.

 

A 5th new mutation has recently been found and we are longing for it to be published so we can tell you about it.

 

Thanks to all the researchers for their amazing work in basic knowledge of Cutis Laxa. All these findings are essential to give patients better care and offer them a better quality of life.

 

Diagnosis Roving and Deadlock

The workgroup of FIMARAD (Rare Dermatologic Disorders French Network), of which Marie-Claude Boiteux is a member, is interested in Diagnosis Odyssey. An important piece of work for Cutis Laxa was presented during the FIMARAD meeting in November.

Due to the great diversity of types and symptoms, the quality of the healthcare journey for CL patients is intimately linked to diagnosis. So, it is not enough to diagnose a Cutis Laxa one needs to be really precise about which type of CL with the help of a molecular analysis (genetic testing).

The quality of the patient’s healthcare as well as the quality of their life depend on the swiftness of the molecular diagnosis. In France, a number of systematic tests are carried out immediately after birth to evaluate the newborn’s health (hernias, tone, mobility, hips,etc)..

A table has been created associating these systematic examinations with various CL symptoms to allow a faster clinical and molecular diagnosis. So, for instance, if the systematic examination of a newborn shows hip dysplasia, the next simple step is to see if the skin is lax and the newborn has hernias to suspect ARCL2A or Geroderma Osteodysplastica. The diagnosis can then be confirmed with a genetic test. Concordance of symptoms is the first step to a faster diagnosis.

AND ALSO …. IN 2021

29th September 2021

Webinar on e-Health with the French Skin Federation

 

 

1st October  2021

Bersot Estate Agency gave us a € 300 chéque. They had proposed to their clients to make a donation to the organisation they had chosen for each transaction. A huge thank you to them.

 

 

14th October 2021

Webinar : Integration of ERNs in National Health Systems – Care Pathways

 

 

 

26th – 27th October 2021

AMEQUIS workshop. The global aim was to simplify and improve the revalidation steps for ERNs when applying for reassessment.

 

 

 

ERN-Skin : Cutis Laxa Webinar

14th December 2021

Pr Bert CALLEWAERT and Pr Raoul ENGELBERT

shared the latest results of the work done by the Mendelian Connective Tissue Disorders thematic group in ERN-Skin.

Especially regarding the latest finding on Cutis Laxa Syndroms. The classification is still in progress.

 

DERMATOLOGY DAYS OF PARIS

1st, 2nd & 3rd December 2021

For the first time this year we had a stall during the Dermatology Days of Paris.

With its conferences, pharmaceutic and cosmetic laboratories stalls, Associations’ village,

 

and e-posters, there’s no need to demonstrate the richness of those days.

It was the opportunity for many exchanges with health professionals as well as with association leaders,

all concerned by dermatology.

FRENCH FEDERATION FOR SKIN – CONFERENCE AND ANNUAL MEETING

30th November 2021

The 3rd Conference of the French Federation for Skin (FFP) was opened by Mr Olivier Véran, French Minister of Health and Solidarity.

Watch his message here (in French) : https://www.youtube.com/watch?v=Bvm0lmixr7E

Convinced that democracy is necessary in health issues, he recognised the quality of the FFP advocacy and the real obstacle course its 21 member organisations can face.

  

FFP represents more than 20 million patients. this third  conference was an  undeniable success in bringing together high quality speakers : health Professionnals and Institutions.

 

The work of the FFP is recognised by all stakeholders in the field of dermatology.

 

After the Conference, the Annual General Meeting was held and the annual report brought to light the many achievements in 2021. The FFP member organisations elected the new board of Directors and its new Chair : Marie-Claude Boiteux

 

French Health Minister’s message

30th November

The 3rd Conference of the French Federation for Skin was opened by Mr Olivier Véran, French Minister of Health and Solidarity. Convinced that democracy is necessary in health issues, he recognised the quality of the FFP advocacy and the real obstacle course its 21 member organisations can face.

Watch his message here (in French) : https://www.youtube.com/watch?v=Bvm0lmixr7E

 

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.