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.

 

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.

Living with …. Cutis Laxa

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The French monthly magazine “La Revue du Praticien” (The Medical Practitioner’s Journal) published an article on Cutis Laxa in its November issue.

 

Read the article here (in French)

CUTIS LAXA PATIENT JOURNEYS

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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

 

Acquired Cutis Laxa associated with monoclonal gammapathy or multiple myeloma

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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

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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 TRAINING SESSION IN GHENT (Belgium)

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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..….

 

ARTERYLASTIC : First real therapeutic hope

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ARTERYLASTIC : First real therapeutic hope for vascular issue in Dominant Cutis Laxa.

 

ARTERYLASTIC derives from researches lead in Lyon (France) by Dr Romain Debret. Originating from the idea that if one can make prosthetics for a joint, maybe we could make prosthestics for a failing elastin, this project is funded by the French National Agency for Research. Selected in 2018, it will start in January 2019.

The project involves 3 laboratories from the Rhône-Alpes area: Laboratory for Tissue Biology and Therapeutic Engineering (National Center for Scientific Research, Lyon), Laboratory for Hypoxia and Cardiovascular and Respiratory Physiopathologies (National Institute of Health and Medical Research, Grenoble), and Sainbiose Laboratory (National Institute of Health and Medical Research, Saint-Etienne).

The main aim of the project is to develop a synthetic elastic protein as medicine agent to improve or restore the vascular elasticity when it is failing in genetic disorders such as Cutis Laxa and Williams Syndrome, but also in non syndromic pathologies such as sleeping apneia.

This project aims to analyse the way the synthetic protein is acting and evaluate its efficiency in pertinent biological models.

The « DHERMIC » project, which preceded ARTERYLASTIC, already provided a wide set of solid data regarding the skin for the synthetic elastic protein. Recent preliminary results regarding the integration in blood vessels walls in fishes and mice are very promising.

An important part of the work will also be dedicated to the pharmacological formulation and certification to allow for the implementation of Clinical Trials at the end of the project (late 2021).

A New Type of Cutis Laxa

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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.

12 different mutations have been identified

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As of today, 12 different mutations have been identified leading to Cutis Laxa. That is why Cutis Laxa classification will soon be reviewed.

  • Elastine (ELN) (2 mutations) – ADCL
  • Fibuline5 (FBLN5) – ARCL1A
  • Fibuline4 (FBLN4) – ARCL1B
  • LTBP4 – ARCL1C
  • ATP6V0A2 – ARCL2A
  • PYCR1 – ARCL2B
  • ATP6V1E1 / ATP6V1A – ARCL2C
  • ALDH18A1 – ARCL3 (De Barsy Syndrom)
  • SCYL1BP1 (Géroderma Osteodysplastica)
  • ATP7A (Occipital Horn Syndrom)
  • RIN2 (MACS Syndrom)

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