Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers‐Danlos syndrome, hypermobility type

Abstract

Cutaneous manifestations are a diagnostic criterion of Ehlers-Danlos syndrome, hypermobility type (EDS-HT) and joint hypermobility syndrome (JHS). These two conditions, originally considered different disorders, are now accepted as clinically indistinguishable and often segregate as a single-familial trait. EDS-HT and JHS are still exclusion diagnoses not supported by any specific laboratory test. Accuracy of clinical diagnosis is, therefore, crucial for appropriate patients' classification and management, but it is actually hampered by the low consistency of many applied criteria including the cutaneous one. We report on mucocutaneous findings in 277 patients with JHS/EDS-HT with both sexes and various ages. Sixteen objective and five anamnestic items were selected and ascertained in two specialized outpatient clinics. Feature rates were compared by sex and age by a series of statistical tools. Data were also used for a multivariate correspondence analysis with the attempt to identify non-causal associations of features depicting recognizable phenotypic clusters. Our findings identified a few differences between sexes and thus indicated an attenuated sexual dimorphism for mucocutaneous features in JHS/EDS-HT. Ten features showed significantly distinct rates at different ages and this evidence corroborated the concept of an evolving phenotype in JHS/EDS-HT also affecting the skin. Multivariate correspondence analysis identified three relatively discrete phenotypic profiles, which may represent the cutaneous counterparts of the three disease phases previously proposed for JHS/EDS-HT. These findings could be used for revising the cutaneous criterion in a future consensus for the clinical diagnosis of JHS/EDS-HT.

Pain and sleep quality in children with non‐vascular Ehlers–Danlos syndromes

“…The Ehlers–Danlos syndromes (EDS) comprise a heterogeneous group of conditions of connective tissue with a broad spectrum of involvement including the musculoskeletal, cardiac, dermatologic, ophthalmologic, gastrointestinal, autonomic, and neurodevelopmental systems (Malfait et al, ). While joint hypermobility is common in the pediatric population (10–15% prevalence) (Cattalani et al, ), the prevalence of most forms of EDS meeting diagnostic criteria in children ranges from 4.6 to 13% (Tobias et al, ; Sperotto et al, ), with the hypermobile type being most common. It has been suggested that joint hypermobility syndrome and hypermobility EDS represent a spectrum of the same disorder (Tinkle et al ).…”

Refining patterns of joint hypermobility, habitus, and orthopedic traits in joint hypermobility syndrome and Ehlers–Danlos syndrome, hypermobility type

“…The original sets of criteria raised from an “opinion”‐based approach from the converging experience of a few experts. Conversely, in the last years, many papers refine some of the previously identified pleiotropic features of the syndrome, such as the mucocutaneous and ocular involvement [Gharbiya et al, ; Castori et al, ], and underline other entirely novel manifestations, such as gastrointestinal involvement and autonomic dysfunction [Zarate et al, ; De Wandele et al, ]. The role of fatigue and chronic pain is also emphasized in JHS/EDS–HT [Voermans et al, ,; Voermans and Knoop, ].…”

“…The role of fatigue and chronic pain is also emphasized in JHS/EDS–HT [Voermans et al, ,; Voermans and Knoop, ]. While many articles offer a global impact of these features in JHS/EDS–HT, the observation of families and heterogeneous patients’ cohorts suggest an age‐influenced phenotype [Castori et al, , , , , ]. Nevertheless, though originally considered relevant features, little attention was put on the extent and evolution of anthropometry, consequences of joint instability and orthopedic traits in JHS/EDS–HT.…”

Spectrum of mucocutaneous, ocular and facial features and delineation of novel presentations in 62 classical Ehlers‐Danlos syndrome patients

“…[2][3][4][5][9][10][11] Various elements contribute to this area of uncertainty. However, intra-and interfamilial variability tells a much wider clinical presentation and significant overlap with other EDS types and heritable soft connective tissue disorders (HSCTDs).…”

“…However, intra-and interfamilial variability tells a much wider clinical presentation and significant overlap with other EDS types and heritable soft connective tissue disorders (HSCTDs). [2][3][4][5][9][10][11] Various elements contribute to this area of uncertainty. JHM seems to naturally decrease with age 5 as more widely demonstrated in hEDS.…”