title: 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.
authors: Marco
authors: M
authors: Castori
authors: Chiara
authors: C
authors: Dordoni
authors: Silvia
authors: S
authors: Morlino
authors: Isabella
authors: I
authors: Sperduti
authors: Marco
authors: M
authors: Ritelli
authors: Michele
authors: M
authors: Valiante
authors: Nicola
authors: N
authors: Chiarelli
authors: Arianna
authors: A
authors: Zanca
authors: Claudia
authors: C
authors: Celletti
authors: Marina
authors: M
authors: Venturini
authors: Filippo
authors: F
authors: Camerota
authors: Piergiacomo
authors: P
authors: Calzavara-Pinton
authors: Paola
authors: P
authors: Grammatico
authors: Marina
authors: M
authors: Colombi
mesh_terms: D000293:Adolescent; D000328:Adult; D000368:Aged; D001284:Atrophy / Q000473:pathology; D002648:Child; D002675:Child, Preschool; D002921:Cicatrix / Q000473:pathology; D004535:Ehlers-Danlos Syndrome / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology; D005260:Female; D006801:Humans; D007593:Joint Instability / Q000151:congenital* / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D008875:Middle Aged; D010641:Phenotype; D012868:Skin Abnormalities / Q000175:diagnosis* / Q000235:genetics / Q000503:physiopathology
keywords: Ehlers-Danlos syndrome hypermobility type; atrophic scar; diagnostic criteria; lingual and oral frenula; skin hyperextensibility