The Classical type Ehlers–Danlos syndrome with Autosomal dominant tubulointerstitial kidney disease, from a dermatological standpoint

Abstract

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.

Keywords: Ehlers–Danlos syndrome, hereditary connective tissue diseases, skin hyper elasticity.