Prof. Dr. Uwe Kornak, MD (Göttingen, Germany): The Secretory Pathway, Glycosylation, and Cutis Laxa

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Secreted proteins and membrane proteins have to pass through the secretory pathway, which is not only responsible for the transport to the correct cellular compartment, but also for the maturation and modification of these proteins. A central part of the secretory pathway is the Golgi compartment, which consists of several « pancake-like » membrane sacks (cisternae).

One important modification is glycosylation, which has been found altered in a whole group of Cutis Laxa disorders, that are also named congenital disorders of glycosylation (CDG).

Mrs Aude Beyens, MD (Ghent, Belgium): Structural defects of Connective Tissue Proteins and CL

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Elastic fiber assembly, or elastogenesis, is a complex process that is precisely regulated in a spatiotemporal manner and depends on proper growth factor signaling and mechanosensing.

 

The underlying molecular defect in cutis laxa syndromes affect the synthesis and/or association associated extracellular matrix proteins.

Prof. Gerhard Sengle (Köln, Germany): Matrix Biology – What can we learn from animal modelling ?

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Understanding how the fine tune mechanisms of elastic fibers formation is perturbed in the different types of Cutis Laxa is crucial to design molecular therapies in preclinical trials using animal models.

Canal JDP

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On 3rd December 2022, during the Dermatology Days of Paris (JDP),

organised by the French Society of Dermatology,

Marie-Claude Boiteux interviewed Pr Ludovic Martin for “Canal JDP”:

 

FIMARAD ANNUAL METING

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24th & 25th November 2022 :

National and Scientific Days of the FIMARAD network for rare skin disorders.

 

Besides the important progress made by the network’s members, together with patient representatives in the workgroups,

it was the opportunity to strengthen the collaboration between FIMARAD and the French Federation for Skin (FFP).

NEW MUTATIONS

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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

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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.

ERN-Skin : Cutis Laxa Webinar

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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

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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.

NEW MUTATIONS

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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.