The Ehlers-Danlos Syndrome

Abstract

The Ehlers-Danlos Syndromes comprise a heterogeneous group of diseases, which are characterized by fragility of the soft connective tissues and widespread manifestations in skin, ligaments and joints, blood vessels and internal organs. The clinical spectrum varies from mild skin and joint hyperlaxity to severe physical disability and life-threatening vascular complications. The current Villefranche classification recognizes six subtypes, most of which are linked to mutations in one of the genes encoding fibrillar collagen proteins or enzymes involved in post-translational modification of these proteins. Establishing the correct EDS subtype has important implications for genetic counselling and management and is supported by specific biochemical and molecular investigations. Over the last years, the characterisation of several new EDS variants has broadened insights into the molecular pathogenesis of EDS by implicating genetic defects in the biosynthesis of other extracellular matrix molecules, such as proteoglycans and tenascin-X, or genetic defects in molecules involved in intracellular trafficking, secretion and assembly of extracellular matrix proteins.

Altered dermal fibroblast behavior in a collagen V haploinsufficient murine model of classic Ehlers–Danlos syndrome

“…Clinical manifestations include skin hyperelasticity, joint hypermobility, tissue fragility, and poor wound healing (1-4). Patients with classic EDS typically have skin involvement; skin may be thin, fragile, and easily torn.…”

Periodic Bruising and Subluxation of the Leg

“…The subtypes of EDS are listed in Table 1 (Malfait & De Paepe, 2014). Most patients with EDS present with skin laxity, tissue fragility, and joint hypermobility, but each of the subtypes have specific clinical associations originating from the genetic mutation of that subtype.…”

“…Musculoskeletal pain can be a prominent symptom of EDS, requiring psychological counseling and support. Occupational and physical therapies often play a role in joint protection and application of assistive devices (Malfait & De Paepe, 2014).…”

Ehlers–Danlos syndrome: A cause of epilepsy and periventricular heterotopia

“…During the last years, the clinical and molecular definition of several new EDS variants called for an enrichment of the classification (Table 1) because EDS pathogenesis may be influenced by genetic defects involving the biosynthesis of other extracellular matrix molecules components and processes [18][19][20][21] ; furthermore, many patients cannot be categorized into a subtype because clinical manifestations are ambiguous.…”

“…34 EDS kyphoscoliotic type is an autosomal recessive disorder characterized by early onset progressive kyphoscoliosis, severe neonatal muscular hypotonia, hyperextensible and bruisable skin, generalized joint hyperlaxity, osteopenia, scleral fragility and risk for rupture of ocular globe. 17,21 Arthrochalasis type is characterized by severe joint hypermobility, skin hyperextensibility, bruisable skin, atrophic scars, muscular hypotonia, osteopenia, kyphoscoliosis and tissue fragility. The characteristic sign of this EDS type is congenital bilateral hip dislocation 28 and, rarely, cardiac involvement.…”