What Is Pediatric Ehlers-Danlos Syndrome?
Pediatric Ehlers-Danlos syndrome is a group of collagen disorders that primarily affect the connective tissue components present in the child’s body. Mainly the tissues comprising the child’s skin, bones, muscles, blood vessels, and other areas of the body are targeted, causing the skin to become more elastic, and hyperextensible. The syndrome usually ranges in severity from hyperextensible, loose joints to fatal complications. Most children complain of very loose joints. The condition is typically characterized by hyperextensible joints, fragile tissues, and highly elastic skin.
What Are the Types of Ehlers-Danlos Syndrome in Children?
There are 13 types of Ehlers-Danlos syndrome. The most common types affect the joints and the skin. Based on the type of the syndrome, the children are prone to other disorders like weakened blood vessels, poor osseous bone density, Crohn’s disease, ulcerative colitis, kyphosis (forward rounding of the backbone), prolapse of the mitral valve, scoliosis (curvature of the spine sideways), loss of hearing, hypotonic muscles, retarded development, and hypermobile joints.
Some of the most common types of Ehlers-Danlos syndrome in children include:
- Cardiac-valvular Ehlers-Danlos Syndrome: This type causes damage to the valves of the heart, especially the mitral valve, extensive stretchability of the skin, thin and elastic skin, and hypermobile joints in children.
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Hypermobile Ehlers-Danlos Syndrome: This type is characterized by hypermobile joints with velvety, elastic skin that can bruise easily. Sometimes, musculoskeletal complications may also be seen like muscle pain.
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Classic Ehlers-Danlos Syndrome: It is characterized by elastic, velvety skin that can be bruised easily, with joints that are hypermobile, along with muscle weakness, and retarded growth and development. Abnormal scarring is seen here.
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Classical-like Ehlers-Danlos Syndrome: This type is similar to the classic EDS type except that abnormal scarring is not present here.
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Vascular Ehlers-Danlos Syndrome: This type is the most severe form of EDS. It usually affects the heart and may cause the rupture of an artery. Children suffering from vascular EDS may exhibit small height, gum recession, and a minimum amount of fat under the skin.
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Kyphoscoliotic Ehlers-Danlos Syndrome: Children suffering from this type are characterized by fragile skin that can bruise easily, hypotonic muscles, delayed development of motor skills, and progressive scoliosis.
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Arthrochalasia Ehlers-Danlos Syndrome: This type is characterized by congenital hip dislocation with hypermobile joints. Children often have extremely fragile, velvety skin, easy bruises, hypotonic muscles, kyphosis (forward bending of the spine), and scoliosis (sideways bending of the spine. The bone density is also very less.
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Dermatosparaxis Ehlers-Danlos Syndrome: This is the most uncommon of all forms of EDS. It is characterized by extremely fragile skin that is susceptible to severe bruising, abnormal head and neck features, and hernias.
What Are the Clinical Features of Pediatric Ehlers-Danlos Syndrome?
The clinical symptoms of the syndrome may appear at birth or briefly after it. These include
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Abnormal paper thin scars.
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Abnormal scarring of the shins.
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Easy bruises.
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Enlarged oot of aorta.
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Mitral valve prolapse (when the mitral valve flaps between the upper and lower chambers of the heart and does not close properly).
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Poor wound healing.
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Tooth abnormalities.
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Gum recession.
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Elastic, velvety skin.
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Poor growth development.
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Short stature.
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Issues in the autonomic nervous system.
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High or low body temperature.
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Abnormal heart rate.
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Improper digestion.
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Abnormal touch sensations.
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Hypermobile joints.
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Frequent dislocations of knees, elbows, shoulders, and toes.
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Frequent pain and sprains.
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Early-onset osteoarthritis.
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Extra folds of skin.
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Digestive issues, including gastroesophageal reflux disease (GERD).
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Abnormal bleeding of the internal organs.
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Organ rupture of the intestines or uterus.
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Osteoporosis (bones are brittle and fragile).
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Dyspnea (difficulty breathing).
What Is the Cause of Pediatric Ehlers-Danlos Syndrome?
The etiology of the disorder is unknown. But the mutation in genes is considered one of the causes of the syndrome. Family history is considered a predisposing factor for the occurrence of the syndrome.
How Is Pediatric Ehlers-Danlos Syndrome Diagnosed?
The diagnosis depends on the physical examination and family history. Genetic tests may also be performed for the diagnosis of the syndrome. Generalized joint hypermobility is assessed on a nine-point scale called Beighton scale. Nine joints are checked for hypermobility on this scale.
The scoring is as follows:
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Children greater than five years of age and teenagers are given a score of six or greater.
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Five or greater score is given for adult males and females who are up to the age of 50.
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People more than 50 years of age are given a score of 4 or more.
It is crucial to visit a doctor on an urgent basis if the child presents with any of the above-mentioned symptoms. The doctor will thoroughly physically examine the child and take his full medical and family history to assess the condition. Genetic testing of the child may also be carried out.
How Is Pediatric Ehlers-Danlos Syndrome Treated?
No definitive cure for the disease is available. But the healthcare professionals may try to minimize the symptoms and prevent further complications of the disorder in the child.
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Pharmacological Treatment:
Medications like painkillers are given to alleviate the pain symptoms. For severe musculoskeletal problems, stronger medications can be given to the child. In case of fragile blood vessels, the child should be carefully monitored by the specialist, and appropriate medications should be administered to keep the blood pressure under control.
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Physical Therapy:
Physiotherapy helps strengthen the child's muscles and weak joints. Physical therapy helps to prevent the frequent occurrence of dislocations and stabilize the joints.
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Surgical Therapy:
Rarely, the child may require surgical therapy if the child suffers frequent dislocations in the joints. Surgery is then needed to repair the hypermobile joints.
Conclusion
Ehlers-Danlos syndrome in children is a group of conditions involving connective tissue. Connective tissue is the main component of the body that provides support, resilience, structure, and stability to the tissues. It also helps in normal scar formation. As soon as the symptoms are observed in the pediatric patient, the parents should visit a doctor immediately. More research should be to unravel the treatment modalities of the syndrome.
