WCRSD 2024 – Paris

For the second time, the World Congress on Rare Skin Diseases was organized in Paris from June 12 to 14. The number of attendees was around 400.

This congress brings together doctors and patient representatives from around the world for rare skin diseases. There was a large representation of patient advocates from various countries in attendance.

Below is a brief report of this conference, highlighting a few sessions separately.

The goals of the congress are:

1. Learning about Diagnosis and Treatment: The congress focuses on exchanging experiences regarding the diagnosis and treatment of rare and complex skin diseases.
2. Developing a Multidisciplinary Approach: The congress aims to help participants develop a multidisciplinary approach and enhance their skills in managing common issues in rare and complex skin diseases.
3. Latest Research and Tools: Participants have the opportunity to learn about the latest research findings and tools in skin biology, genetics, and therapeutic treatments.
4. Patient Involvement and Education: The congress also provides insight into how patients can be more actively involved in their care and supported through educational programs.

In summary, this congress is intended to expand knowledge and improve skills in the diagnosis and treatment of complex skin diseases, while providing insights into the latest developments in research and patient care.

Prof. Dr. Eulalia Baselga and Prof. Dr. Miikka Vikkula (one of our advisors) gave a presentation on the latest developments.

Understanding Capillary Malformations

Capillary malformations are common skin conditions that appear as pink or red spots on the skin, often present from birth. These spots are caused by an abnormal arrangement of small blood vessels under the skin. While all of these spots fall under the general term “capillary malformations,” they can look very different from one another. Over the past years, we have learned that these differences result from mutations that occur in vascular cells during embryonic development. Depending on the timing of the mutation, the number or location of affected cells, and many other factors, the appearance of these malformations can vary. Many genes can be involved, including GNAQ, GNA11, Pik3CA, PIK3R1, KRAS, RASA1, EPHB4, and AKT3.

Differences in Appearance

Capillary malformations can vary greatly in appearance:

• Some are light pink, while others are dark purple.
• Some have smooth, indistinct edges, while others resemble geographical maps with well-defined borders.

Why Recognizing These Differences Is Important

Although all vascular birthmarks are categorized as capillary malformations, distinguishing them based on appearance offers many benefits:

• Grouping patients with similar marks can help doctors understand possible complications and predict the prognosis. Certain types of marks, for instance, may be more likely to cause overgrowth or other health issues.
• Determining appropriate follow-up: Recognizing differences in capillary malformations enables doctors to decide on suitable monitoring or check-ups for each patient. Some types may require regular eye exams or brain imaging.
• Identifying genetic causes: By understanding appearance differences, doctors can investigate whether a specific gene abnormality is responsible for a type of capillary malformation. This knowledge may lead to targeted treatments tailored to each patient, increasing the effectiveness of therapies and reducing unnecessary interventions.

Different Types of Capillary Malformations

1. Nevus Simplex (Salmon Patch or Stork Bite): Light pink marks commonly seen on the face or neck of newborns, which usually fade as the child grows.
2. Port-Wine Stains: Darker red or purple marks that may darken over time and are sometimes associated with conditions like Sturge-Weber syndrome, which can affect the brain and eyes. These are usually linked to GNAQ or GNA11 gene mutations. Research has also shown slight differences between GNAQ and GNA11 mutations, as children with GNA11 mutations in Sturge-Weber syndrome are less likely to experience epilepsy or cognitive impairment.
3. Reticulated Capillary Malformation: These marks may involve abnormal tissue growth, affecting bones or other tissues. This type of capillary malformation is seen in Macrocephaly-Capillary Malformation Syndrome and in many children who only have the mark with limited overgrowth, such as in DCMO (Diffuse Capillary Malformation with Overgrowth). These malformations are often linked to mutations in the PIK3CA gene, although many other genes may also be involved.
4. Geographic Capillary Malformations: These are darker, well-defined capillary malformations or stains. This type of mark is often seen in Klippel-Trenaunay Syndrome or CLOVES Syndrome.
5. Cutis Marmorata Telangiectatica Congenita: A distinctive type of birthmark with tram-like, depressed purple marks. This is typically an isolated phenomenon with no known genetic associations. In the past, this term was frequently used for what we now refer to as reticulated capillary malformations.

Available Treatments

Treatment options vary depending on the type and severity of the capillary malformation. Common approaches include laser therapy to lighten port-wine stains and medications to manage associated health issues. Early diagnosis and personalized care are essential to improving outcomes and quality of life.

Conclusion: There is not just one type of capillary malformation but rather many.

At the congress, Prof. Dr. Suzanne Pasmans (also one of our medical advisors), Marjolein van Kessel (Nevus Network Netherlands, NNN), and Karin Veltman (Ichthyosis) gave a presentation on the “Patient Education Program” (PEP).

The World Health Organization (WHO) considers patient education an important part of healthcare. The WHO has established guidelines that cover various aspects of patient education with the goal of improving patients’ health and well-being by informing them better and involving them more actively in their own care.

This recommendation requires further development. Our presentation provided an example of how we organize and meet PEP requirements by offering information to patients at multiple points in the ‘patient journey.’ At birth, significant information is provided to parents; as the child grows, educating the child becomes important; and later, information is tailored to the adult. Thus, information is provided to people at different stages of life. In our presentation, we also emphasized the importance of collaboration between doctors and patients (and patient associations). NNN offers a wealth of educational materials.

Following this, Suzanne presented a case: suppose a child is born with CMN (Congenital Melanocytic Nevi) or Ichthyosis—what can the patient expect from the professional? What does the patient association offer? Marjolein and Karin then responded to these questions from the perspective of their respective organizations.

We also had a booth in a separate hall, right next to the main hall, where we presented our organization through a wide array of brochures, booklets, and a new banner. Naturally, we brought a large quantity of stroopwafels and chocolates, which were, once again, very well received!

Several doctors mentioned that they already use our materials. Thanks to the online ordering option for our informational materials, it’s very easy to place an order, which we then send by post. We developed a special card with a QR code that directly links to the ordering page.

Our new series of brochures and booklets clearly stood out, and nearly all of the materials were taken.