Classical Ehlers–Danlos syndrome with severe kyphoscoliosis due to a novel pathogenic variant of COL5A2

Abstract

Ehlers-Danlos syndromes (EDS) are a heterogeneous group of hereditary connective tissue disorders (HTCD) caused by mutations in genes involved in the structure and/or biosynthesis of collagens and other extracellular matrix proteins. 1 The 2017 classification consists of 13 types of EDS based on clinical manifestations and genetic abnormalities in 19 different genes. 2 Main common characteristics are generalized joint hypermobility (GJH), skin hyperextensibility, and tissue fragility. Scoliosis is another common manifestation in EDS patients. 1,3,4 Especially,

Spinal Deformity in Ehlers–Danlos Syndrome: Focus on Musculocontractural Type

“…On the other hand, the effectiveness of bracing therapy in syndromic scoliosis may be limited because the deformity occurs earlier in life and is often more progressive than in idiopathic scoliosis. One study showed that bracing was most effective in children with a spinal curvature above 20°–25° who were too old for casting in a cohort of scoliosis patients with Prader–Willi syndrome [ 23 ]. Bracing is intended to stop curve advancement.…”

“…Bracing is intended to stop curve advancement. However, in cases of very large curves, braces may be used to maintain the curve until the patient is ready for surgery [ 23 ]. Generally, 5 of less than 30° are treated with a Providence-style brace that is only worn at night [ 23 ].…”

“…However, in cases of very large curves, braces may be used to maintain the curve until the patient is ready for surgery [ 23 ]. Generally, 5 of less than 30° are treated with a Providence-style brace that is only worn at night [ 23 ]. For daytime use, a typical thoracic-lumbar-sacral orthosis is prescribed if the curvature is more than 30° [ 23 ].…”

“…Generally, 5 of less than 30° are treated with a Providence-style brace that is only worn at night [ 23 ]. For daytime use, a typical thoracic-lumbar-sacral orthosis is prescribed if the curvature is more than 30° [ 23 ]. If a curve advances to over 50° and a future operation is expected, brace treatment is continued as long as in-brace radiographs demonstrate a curve of under 50°, thereby giving the child a chance to grow even further [ 23 ].…”

“…For daytime use, a typical thoracic-lumbar-sacral orthosis is prescribed if the curvature is more than 30° [ 23 ]. If a curve advances to over 50° and a future operation is expected, brace treatment is continued as long as in-brace radiographs demonstrate a curve of under 50°, thereby giving the child a chance to grow even further [ 23 ]. Foy et al described a female kyphoscoliotic EDS patient who was followed carefully to control scoliosis progression and for the adjustment of bracing and physiotherapy [ 24 ].…”