summary Ehlers-Danlos Syndrome is a congenital connective tissue disorder most commonly caused by a variety of mutation in collagen forming genes. Patients present with joint hypermobility, generalized ligamentous laxity, scoliosis, fragile skin, and cardiovascular abnormalities. Diagnosis is made by collagen typing in a skin biopsy. Treatment is usually physical therapy, orthotics, and supportive measures for pain. Surgical management is indicated for progressive scoliosis or progressive joint pain not responsive to non-operative management. Etiology Genetics COL5A1 or COL5A2 mutation in 40-50% gene for type V collagen important in proper assembly of skin matrix collagen fibrils and basement membrane less common mutations identified below Associated conditions Connective tissue disorder characterized by hyperelastic/fragile skin joint hypermobility and dislocation generalized ligamentous laxity poor wound healing early onset arthritis additional features soft tissue and bone fragility soft tissue calcification mitral valve prolapse aortic root dilatation developmental dysplasia of the hip clubfoot pes planus scoliosis high palate gastroparesis Classification Berlin Classification (1988) - revised Types I - XI exist Types II and III - most common and least disabling Villefranche Classification (1998) Villefranche Classification New name Features Former name Classical ⹠Autosomal dominant⹠Hyperextensible skin, widened atrophic scars, joint hypermobility⹠COL5A1 or COL5A2 mutation; type V collagen (co-expressed with type I collagen) ⹠Type I (gravis), Type II (mitis) Hypermobile ⹠Autosomal dominant⹠Large and small joint hypermobility, recurring joint subluxations/dislocations, velvety soft skin, chronic pain, scoliosis⹠Unknown mutation ⹠Type III Vascular ⹠Autosomal dominant⹠Translucent skin, arterial/intestinal/uterine fragility and spontaneous rupture, extensive bruising⹠COL3A1 mutation; abnormal type III collagen ⹠Type IV Kyphoscoliosis ⹠Autosomal recessive⹠Severe hypotonia at birth, generalized joint laxity, progressive infantile scoliosis, scleral fragility may lead to globe rupture⹠Mutation in PLOD gene; lysyl hydroxylase deficiency (enzyme important in collagen cross-linking) Type VI (ocular scoliotic) Arthrochalasis ⹠Autosomal dominant⹠Bilateral congenital hip dislocation, severe joint hypermobility, skin hyperextensibility⹠Deletion of type I collagen exons encoding N-terminal end of COL1A1 or COL1A2 Type VIIA, VIIB Dermatosparaxis - ⹠Autosomal recessive⹠Severe skin fragility and substantial bruising, sagging or redundant skin⹠Mutation in ADAMTS2 gene; type I procollagen N-terminal peptidase deficiency Type VIIIC Presentation Symptoms double-jointedness easily damaged, bruised, & stretchy skin easy scarring & poor wound healing increased joint mobility, joint popping, early arthritis especially shoulders, patellae, ankles chronic musculoskeletal pain (50%) Physical exam a score of 5 or more on 9-point Beighton-Horan scale defines joint hypermobility ; however this threshold varies in the literature passive hyperextension of each small finger >90° (1 point each) passive abduction of each thumb to the surface of forearm (1 point each) hyperextension of each knee >10° (1 point each) hyperextension of each elbow >10° (1 point each) forward flexion of trunk with palms on floor and knees fully extended (1 point) Imaging Radiographs look for joint dislocations/subluxations kyphoscoliosis Echocardiogram cardiac evaluation with echo is mandatory in the workup up to 1/3 of patients have aortic root dilatation Labs Diagnosed by collagen typing of skin biopsy Treatment Nonoperative physical therapy, orthotics, supportive measures for pain indications mainstay of treatment Operative arthrodesis indications joints recalcitrant to non-operative management technique soft tissue procedures are unlikely successful in hypermobile joints posterior spinal fusion indications progressive scoliosis (most common in Kyphoscoliosis Type) technique longer fusions needed to prevent junctional problems
QUESTIONS 1 of 2 1 2 Previous Next (OBQ12.208) For which of the following conditions would a physician use the Beighton-Horan scale during the physical examination of a patient? QID: 4568 Type & Select Correct Answer 1 Cerebral palsy 14% (535/3929) 2 Ehlers-Danlos 69% (2712/3929) 3 Myelodysplasia 7% (273/3929) 4 Arthrogryposis 7% (286/3929) 5 Kniest's dysplasia 2% (60/3929) L 3 Question Complexity C Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 2 Review Tested Concept Review Full Topic (OBQ05.232) Which of the following are findings not associated with Ehlers-Danlos syndrome? QID: 1118 Type & Select Correct Answer 1 Superior lens dislocation of the eye 77% (1565/2020) 2 Joint hypermobility 1% (26/2020) 3 Skin hyperelasticity 2% (32/2020) 4 Pathologic defect of collagen 4% (82/2020) 5 Poor wound healing 15% (304/2020) L 2 Question Complexity D Question Importance Select Answer to see Preferred Response SUBMIT RESPONSE 1 Review Tested Concept Review Full Topic
All Videos (1) Podcasts (1) Login to View Community Videos Login to View Community Videos Ehlers Danlos Syndrome - Swan Neck Deformity and Hyperextensionability of PIP Pediatrics - Ehlers-Danlos Syndrome D 11/3/2012 446 views 5.0 (1) PediatricsâȘEhlers-Danlos Syndrome Orthobullets Team Pediatrics - Ehlers-Danlos Syndrome Listen Now 9:56 min 4/28/2020 180 plays 5.0 (1)