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

Marco Castori, Chiara Dordoni, Silvia Morlino, Isabella Sperduti, Marco Ritelli, Michele Valiante, Nicola Chiarelli, Arianna Zanca, Claudia Celletti, Marina Venturini, Filippo Camerota, Piergiacomo Calzavara-Pinton, Paola Grammatico, Marina Colombi

Research output: Contribution to journalArticlepeer-review


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.

Original languageEnglish
Pages (from-to)43-53
Number of pages11
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Issue number1
Publication statusPublished - Mar 1 2015


  • Atrophic scar
  • Diagnostic criteria
  • Ehlers-Danlos syndrome hypermobility type
  • Lingual and oral frenula
  • Skin hyperextensibility

ASJC Scopus subject areas

  • Genetics(clinical)
  • Genetics
  • Medicine(all)


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