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Ehlers-Danlos syndrome comprises a heterogeneous group of collagen disorders (hereditary connective tissue disease).
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The combined prevalence for all types of Ehlers-Danlos syndrome is estimated to be at least 1 of every 5000 individuals. There is no significant gender predominance.
Ehlers-Danlos syndrome clinically manifests with
- skin hyperelasticity and fragility
- joint hypermobility
- blood vessel fragility with bleeding diathesis 1
- poor tissue healing with delayed healing with tissue paper-like scarring 1
There are at least ten subtypes with variable inheritance patterns. The majority are autosomal dominant:
- types I and II (also called classic Ehlers-Danlos syndrome) are autosomal dominant and result from mutations in COL5A1 and COL5A2 9.
- type III (also called hypermobility Ehlers-Danlos syndrome) is autosomal dominant with an unknown biochemical origin 9.
- type IV (also called vascular Ehlers-Danlos syndrome 4) is autosomal dominant and involves the arteries, GI tract, uterus and skin; COL3A1 mutation result in type III collagen production
- type VI (also called kyphoscoliosis Ehlers-Danlos syndrome 9) is recessively inherited. It results from a mutation in the gene that encodes lysyl hydroxylase
- type VII is is subclassified into arthrochalasia (type VIIa/b - autosomal dominant) and dermatosparaxis (type VIIc - autosomal recessive) which result from mutations in COL1A1/COL1A2 and procollagen N-peptidase respectively. COL1A1/COL1A2 mutations result in defective conversion of procollagen to collagen 9.
- types V, VIII, IX and X are very rare and their features have not been fully described 1
The 2017 Ehlers-Danlos classification lists 13 subtypes, including several newly-identified rare forms of the disease 7,8.
The imaging findings of Ehlers-Danlos syndrome are best discussed according to system.
- multiple ovoid calcifications (<1 cm) in the subcutaneous tissue
- ectopic ossification 2
- hemarthrosis (especially knees)
- recurrent dislocation: including spontaneous dislocation of the temporomandibular joint 3
- precocious osteoarthritis
- fragile blood vessels
- arterial aneurysm formation
- increased occurrence of arterial dissection: aortography contraindicated 2
- ectasias of the gastrointestinal tract
- 1. Kumar P, Clark ML. Kumar & Clark's clinical medicine. Saunders Ltd. (2009) ISBN:0702029939. Read it at Google Books - Find it at Amazon
- 2. Dähnert W. Radiology review manual. Lippincott Williams & Wilkins. (2007) ISBN:0781738954. Read it at Google Books - Find it at Amazon
- 3. Dixon AK, Adams A. Diagnostic Radiology. Churchill Livingstone. (2007) ISBN:0443101639. Read it at Google Books - Find it at Amazon
- 4. Zilocchi M, Macedo TA, Oderich GS et-al. Vascular Ehlers-Danlos syndrome: imaging findings. AJR Am J Roentgenol. 2007;189 (3): 712-9. doi:10.2214/AJR.07.2370 - Pubmed citation
- 5. Ayres JG, Pope FM, Reidy JF et-al. Abnormalities of the lungs and thoracic cage in the Ehlers-Danlos syndrome. Thorax. 1985;40 (4): 300-5. doi:10.1136/thx.40.4.300 - Free text at pubmed - Pubmed citation
- 6. Jose Gutierrez, Ralph L. Sacco, Clinton B. Wright. Dolichoectasia—an evolving arterial disease. (2011) Nature Reviews Neurology. 7 (1): 41. doi:10.1038/nrneurol.2010.181 - Pubmed
- 7. Malfait F, Francomano C, Byers P et al. The 2017 International Classification of the Ehlers-Danlos Syndromes. Am J Med Genet C Semin Med Genet. 2017;175(1):8-26. doi:10.1002/ajmg.c.31552 - Pubmed
- 8. Castori M & Hakim A. Contemporary Approach to Joint Hypermobility and Related Disorders. Curr Opin Pediatr. 2017;29(6):640-9. doi:10.1097/MOP.0000000000000541 - Pubmed
- 9. Vinay Kumar, Abul K. Abbas, Jon C. Aster. Robbins & Cotran Pathologic Basis of Disease E-Book. (2020) ISBN: 9780323609937 - Google Books