Pediatric Ehlers-Danlos syndrome (EDS or elastic skin)

What is pediatric Ehlers-Danlos syndrome (EDS or elastic skin)?

Ehlers-Danlos syndrome (EDS) is a group of connective tissue disorders that can affect many areas of the body. Connective tissue is made up of proteins such as collagen, which give strength and structure to skin, joints and blood vessels.

Children with EDS may have a problem with a gene (mutation) that affects the way their body makes or processes collagen.

This problem with collagen often causes hypermobility, which means joints move beyond the normal range of motion and might easily dislocate.

In 1901 Edvard Ehlers identified this condition. In 1908 Henri-Alexandre Danlos recognized the skin extensibility and fragility were the primary features of this syndrome.

What are the different types of pediatric Ehlers-Danlos syndrome (EDS or elastic skin)?

The two most common types of EDS are hypermobile EDS and classical EDS, which are not life threatening, but may impact quality of life. There are many subtypes of EDS that are much more rare and may cause more severe symptoms.

Hypermobile EDS (hEDS)

This is the most common type of EDS. Symptoms can be mild and usually are not noticeable until a child is older, or until they’re an adult. The cause of hEDS is unknown, but it’s likely caused by many factors.

hEDS typically causes:

• Joint hypermobility, that may lead to joint dislocations or chronic pain

• Unusually soft, velvety skin that may stretch slightly beyond the normal range and bruises easily

• Functional bowel disorders and cardiovascular symptoms such as postural orthostatic tachycardia syndrome (POTS) can also be seen

Classical EDS (cEDS)

This is the second most common type of EDS. It’s caused by mutations in several genes responsible for connective tissue structure, including COL5A1, COL5A2, or COL1A1. cEDS.

cEDS typical causes:

• Joint hypermobility that leads to joint dislocations and chronic pain

• Unusually stretchy and fragile skin

• Abnormal scarring, easy bruising and slow wound healing

Vascular EDS (vEDS)

vEDS is very rare, and it is caused by a mutation in the COL3A1 gene. People with vEDS are at increased risk for rupture of the arteries, bowel, or other organs. vEDS is a distinct condition from the more common EDS subtypes, and people with hypermobile or classical EDS are not at risk for organ rupture.

Other rare types of EDS

There are 10 other types of EDS that are very rare and cause more severe symptoms that doctors typically detect at birth or in early childhood. Most types have problems with the joints, and some babies are born with dislocated joints. Depending on the type, a child may also have problems with their heart, spine, muscles, eyes, or teeth and gums.

These rare types include:

• Arthrochalasia EDS (aEDS)

• Brittle cornea syndrome (BCS)

• Cardiac-valvular EDS

• Classical-like EDS

• Dermatosparaxis EDS (dEDS)

• Kyphoscoliotic EDS (kEDS)

• Musculocontractural EDS (mcEDS)

• Myopathic EDS (mEDS)

• Periodontal EDS (pEDS)

• Spondylodysplastic EDS (spEDS)

What are the signs and symptoms of pediatric Ehlers-Danlos syndrome (EDS or elastic skin)?

Symptoms vary based on the type of EDS. Please consider seeking an evaluation for your child if they have one or more of these symptoms.

• Fragile skin that heals slowly

• Thin scars that appear stretched out

• Repeated joint dislocations with minimal trauma

• Progressive scoliosis

• A history of organ rupture in a close relative (parent or sibling)

• A close relative (parent or sibling) with positive genetic testing for a connective tissue condition

How is pediatric Ehlers-Danlos syndrome (EDS or elastic skin) diagnosed?

Doctors use genetic testing to diagnose most types of EDS except hypermobile EDS, the most common type. Your doctor will also evaluate your child through a physical exam and review your family’s medical history. Different specialists may work together to connect seemingly unrelated symptoms to one diagnosis of a specific type of EDS.

To help us confirm a diagnosis, your child may also have imaging tests, such as:

• X-rays and CT scans to examine organs, ligaments, joints and bones

• Echocardiogram (an ultrasound of the heart), if EDS affects heart function

What causes pediatric Ehlers-Danlos syndrome (EDS or elastic skin)?

The cause of hypermobile EDS is unknown, but it’s likely caused by many factors. The other types of EDS are caused by mutations in one or more genes. In some cases, mutations can occur in children without a family history of EDS.

How is pediatric Ehlers-Danlos syndrome (EDS or elastic skin) treated?

There is no cure for EDS yet. Our team provides personalized, supportive treatment to relieve your child’s unique symptoms and help them have the best possible quality of life.

Our treatment options include:

• Physical therapy (PT) - Helps build strength and stability, reduce pain and prevent injuries

• Occupational therapy (OT) - Helps your child perform daily tasks, such as brushing their teeth or playing sports at school

• Pain management - Addresses chronic pain related to joint hypermobility

• Nutritional support - Helps relieve digestive problems and address other symptoms, such as muscle weakness

• Orthopedic devices - This my include devices such as splints or braces to stabilize muscles and joints

• Orthopedic surgery - In severe cases, this will help to stabilize loose or damaged joints

• Other - Psychological therapy, medication or social work services to help cope with the challenges of the condition