Matthew NC Wilson, MD
Resident Physician
Loma Linda University
Redlands, California, United States
Tina Wang, MD
Assistant Professory
Loma Linda University School of Medicine
Upland, California, United States
Thaddeus Wilson, MD
Assistant Professor
Loma Linda University School of Medicine
Loma Linda, California, United States
Alexandra Lang, BS
Student
Loma Linda University Health
Loma Linda, California, United States
Hypermobile Ehlers-Danlos syndrome (hEDS), a heritable connective tissue disorder, is the most prevalent EDS subtype. It involves alterations in the extracellular matrix (ECM) of the fascial system, contributing to myofascial pain. In children, joint hypermobility, skin hyperextensibility, and ligament laxity are typical. In pediatric patients, hEDS diagnosis is often delayed until adolescence, with a provisional HSD diagnosis assigned to monitor symptom progression.
Case Description:
Purpose: The aim of this study was to investigate the presence and extent of fascial pathology in pediatric patients with a provisional diagnosis of hypermobility spectrum disorder HSD.
Case summary: 11-years-old male with a maternal history of hEDS was diagnosed with HSD, presented with skn abnormalities, joint subluxations, pain, and a Beighton score of 6. The patient underwent ultrasound examination, with findings compared to a control.
Discussions:
Intervention: Ultrasound measurements of the sternocleidomastoid and thoracolumbar fascia were performed in supine and prone positions, respectively. Patellar tendon elongation was visualized during isometric ramped contractions, with tendon displacement measured at rest and maximum contraction.
Outcome: Patellar elongation was higher in the case (right 11.4%, left 15.4%) compared to the control (right 5.5%, left 3.3%). The case also had thicker thoracolumbar fascia (right 4.3 mm, left 3.5 mm than the control group (thoracolumbar fascia: right 2.2 mm, left 2.2 mm). There was no difference between the case (right 1.0 mm, left 1.1 mm) and control (right 0.9 mm, left 1.1 mm) for the sternocleidomastoid deep fascia.
Conclusions:
In adults, hEDS is associated with densification of the deep fascia, particularly in the sternocleidomastoid and thoracolumbar fascia, and reduced patellar tendon stiffness. These full manifestations are not yet observed in children, we suggest that similar fascial changes may be developing in children with HSD. Ultrasonographic monitoring could serve as an objective tool for assessing disease progression and manifestations, and for guiding early interventions.
