Prevalence of Cutis Laxa

Orphanet has just issued the new figures of rare disorders prevalence (number of birth/ 100 000).

https://www.orpha.net/orphacom/cahiers/docs/GB/Prevalence_of_rare_diseases_by_alphabetical_list.pdf

Below are the figures for Cutis Laxa (PN* means at birth in Europe).

« Marie-Claude Boiteux, a volunteer mother fighting for her daughter suffering from an orphan disorder »

Le Dauphiné Libéré 2018.02.07

A New Type of Cutis Laxa

In March, the American Journal of Medecine Genetics published an article showing that a mutation on the gene PTDSS1 leads to a very rare type of Cutis Laxa :  Lenz-Majewski Syndrome (LMS) . It includes Cutis Laxa with growth delay, dwarfism and intellectual delay. According to this study of 3 cases, this is a new type of Cutis Laxa that needs to be added to those already identified.

cmgg-Pr Bert CALLEWAERT

Research on Cutis Laxa in Europe

ERN-Skin’s aims are, among others, to improve patients’ follow-up and to help research. Within this framework, it is essential that patients, as well as doctors concerned by Cutis Laxa, help research projects. No research can be done without everyone’s involvement.
If you wish to take part in research on Cutis Laxa in Europe, please get in touch with the coordinator concerned with Cutis Laxa :

Pr Bert CALLEWAERT Read more

Charente Libre « A woman with disabilities fights to get her hydrotherapy paid for by public health insurance »

21st December Charente Libre (French Newspaper): « A woman with disabilities fights to get her hydrotherapy paid for by public health insurance » Nathalie’s annual call for funding for her hydrotherapy has been refused by a doctor in French Public Health Insurance. The doctor in Dax where she gets her hydrotherapy will support her case.

Article

Dr Pascal Sommer took part in CNRS forum

Dr Pascal Sommer took part in CNRS (French National Centre for Scientific Research) forum « What remains to be discovered ? ». Everyone knows that our organism will diminish with aging. Why do physiological systems progressively diminish with time ? Are we genetically programed to age ? What are the links between cancer, neurodegenerative disorders and aging ? Why do certain species age more quickly than others ?

If researchers are trying to better grasp the causes and consequences of aging, they are also developing solutions to study, protect, stimulate and even replace elastic fibers of viscoelastic components of our body.

You can listen (in French) to the whole discussion from this forum on  :

New mutations (ATP6V1E1, ATP6V1A)

ATP6V1E1 or ATP6V1A, are the new mutations recently published by a team of researchers including, among others, les nouvelles mutations publiées par une équipe de chercheurs incluant, entre autres, Mmes Gardeitchik, Mohammed, De Paepe, Malfait and Morava as well as Messrs Kornak, Wevers and Callewaert, who are researchers we are in contact with.
Those mutations can be included in Autosomal Recessive Cutis Laxa type 2 (ARCL2). They lead to Glycosylation Abnormalities (CDGs).