It is important to notice that JHS and hEDS constitute 2 distinct inherited disorders of the connective tissue with significant overlapping in clinical manifestations (hyperextensible skin, recurrent joint subluxation/dislocation, chronic arthralgia, limping, and positive family history). 2) have described the diagnostic criteria for hEDS, which include the presence of JHS. 3) Therefore, the diagnosis of hEDS is clinical. Hypermobile EDS is an autosomal dominant disorder but the gene responsible for its clinical manifestations is currently unknown. 1, 3) Orthopedic surgeons may encounter patients with hEDS due to chronic pain and joint instability.
Ehlers danlos syndrome type 3 photos skin#
2) Due to this, patients with EDS often present with skin hyperextensibility or wound healing abnormalities, joint hypermobility or instability, and easy bruising. Genes that encode collagen or collagen-modifying enzymes are involved in the pathogenesis of EDS.
Ehlers danlos syndrome type 3 photos full#
A diagnosis of joint hypermobility syndrome (JHS) is made in the presence of 2 major criteria, 1 major and 2 minor criteria, 4 minor criteria, or 2 minor criteria in the presence of an unequivocally affected first-degree relative ( Table 3).ĭiagnostic Criteria for Joint Hypermobility SyndromeĬlick for larger image Click for full table Download as Excel file The clinical diagnosis of hypermobile type EDS (hEDS) needs the simultaneous presence of all 3 criteria presented in Table 2. 2) The Villefranche Nosology classification of EDS was published in 1998 and it has been widely used in clinical practice however, with the description of new EDS subtypes over the last 2 decades, another classification was necessary. EDS might also be classified according to the genetic and pathogenetic mechanisms involved in each type and that result in the production of proteins with similar biological effects. Although it was not developed based on the genetic defects associated with EDS, the 2017 classification is particularly useful in cases of EDS diagnosis without the presence of a genetic defect.
2) This newer classification ( Table 1) was believed to be more clinically oriented and “user-friendly” compared to the previous classifications of EDS that were mostly based on genetics.
1) Based on the most recent classification of EDS in 2017, 13 subtypes are currently recognized. Ehlers-Danlos Syndrome (EDS) has been described as a multiorgan disorder resulting from various abnormalities in collagen primarily affecting the skin, musculoskeletal tissues, and vessels.