The Classical type Ehlers-Danlos syndrome with Autosomal dominant tubulointerstitial kidney disease, from a dermatological standpoint
DOI:
https://doi.org/10.66344/jpad.v32i3.1972Abstract
Ehlers-Danlos syndrome (EDS) is a group of non-inflammatory hereditary connective tissue diseases that impair collagen and elastin metabolism, resulting in collagen defects and/or disordered deposition in tissues, and can cause a variety of multisystemic symptoms. It has a wide range of genetic origins, molecular abnormalities, and connective tissue ultrastructure (CT). EDS is caused by changes in over 19 genes that are present at birth. The kind of EDS is determined by the gene that is impacted. EDS has been divided into 13 subtypes, with a fourteenth variant reported in 2018. One of the most prevalent manifestations is the hypermobile version (EDSH). Hippocrates first described EDS in the 4th century B.C. The syndromes are named after two physicians who described them around the start of the twentieth century: Edvard Ehlers and Henri-Alexandre Danlos. The altered mechanical functions of the involved tissues cause a variety of cutaneous (hyper elasticity, fragility, and atrophy), rheumatological (joint laxity and hypermobility), and vascular (vessel wall fragility and easy bruise) changes. The diagnosis is usually made using a combination of clinical criteria, skin biopsies, and genetic studies. EDS is normally diagnosed at birth or in early childhood, but symptoms can sometimes appear in adolescence or young adulthood. Some gynecologic and obstetric problems are frequent among women. When a patient is identified, a thorough examination of all family members is required. Aortic dissection and joint dislocations are two major complications that can occur.
References
1. Taj FT, Sajjan VV, Singh D. Ehlers-Danlos syndrome. Indian Dermatol Online J. 2014;5:S68-S70.
2. Rodgers KR, Gui J, Dinulos MB, et al. Ehlers-Danlos syndrome hypermobility type is associated with rheumatic diseases. Sci Rep. 2017;7:39636.
3. Fernandes NF, Schwartz RA. A "hyperextensive" review of Ehlers-Danlos syndrome. Cutis. 2008;82:242-248.
4. Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. 2001;107:1063-9.
5. 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;175:8-26.
6. Blackburn PR, Xu Z, Tumelty KE, et al. Bi-allelic Alterations in AEBP1 Lead to Defective Collagen Assembly and Connective Tissue Structure Resulting in a Variant of Ehlers-Danlos Syndrome. Am J Hum Genet. 2018;102:696-705.
7. Altin C, Askin U, Gezmis E, et al. Piezogenic Pedal Papules with Mitral Valve Prolapse. Indian J Dermatol. 2016;61:234.
8. Edimo CO, Wajsberg JR, Wong S, et al. The dermatological aspects of hEDS in women. Int J Womens Dermatol. 2021;7:285-9.
9. Jarmulowicz M, Phillips WG. Vascular Ehlers-Danlos syndrome undiagnosed during life. J R Soc Med. 2001;94:28-30.
10. Mao JR, Bristow J. The Ehlers-Danlos syndrome: on beyond collagens. J Clin Invest. 2001;107(9):1063-9.
11. Gniadecka M, Johansson CK, Ullman S, et al. Enlarged hair follicles in patients with Ehlers-Danlos syndrome. Acta Derm Venereol. 2004;84:249-50.
12. Tarrass F, Benjelloun M, Hachim K, et al. Ehlers-Danlos syndrome coexisting with juvenile nephronophtisis. Nephrology (Carlton). 2006;11:117-9.
13. Dousa KM, Khan K, Alencherry B, et al. Renal infarction in vascular Ehlers-Danlos syndrome masquerading as pyelonephritis. Clin Case Rep. 2018;6:1478-80.
14. Gilliam E, Hoffman JD, Yeh G. Urogenital and pelvic complications in the Ehlers-Danlos syndromes and associated hypermobility spectrum disorders: A scoping review. Clin Genet. 2020;97:168-78.
15. Ritelli M, Venturini M, Cinquina V, et al. Multisystemic manifestations in a cohort of 75 classical Ehlers-Danlos syndrome patients: natural history and nosological perspectives. Orphanet J Rare Dis. 2020;15:197.
16. Greenspan DS, Northrup H, Au KS, et al. COL5A1: fine genetic mapping and exclusion as candidate gene in families with nail-patella syndrome, tuberous sclerosis 1, hereditary hemorrhagic telangiectasia, and Ehlers-Danlos Syndrome type II. Genomics. 1995;25:737-739.
17. Blagowidow N. Obstetrics and gynecology in Ehlers-Danlos syndrome: A brief review and update. Am J Med Genet C Semin Med Genet. 2021;187:593-8.
18. Bowen JM, Sobey GJ, Burrows NP, et al. Ehlers-Danlos syndrome, classical type. Am J Med Genet C Semin Med Genet. 2017;175:27-39.
19. Colombi M, Dordoni C, Chiarelli N, et al. Differential diagnosis and diagnostic flow chart of joint hypermobility syndrome/ehlers-danlos syndrome hypermobility type compared to other heritable connective tissue disorders. Am J Med Genet C Semin Med Genet. 2015;169C:6-22.
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Copyright (c) 2022 Walaa Fadhil Abbas, Tamrazova Olga Borisovna, Molochkov Anton Vladimirovich, Kolbe Olga Borisovna, Bekmurzaeva G.B, Stadnikova Antonina Sergeevna
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