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Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type.
Am J Med Genet C Semin Med Genet 2015; 169C(1):43-53AJ

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

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Pub Type(s)

Journal Article

Language

eng

PubMed ID

25655071

Citation

Castori, Marco, et al. "Spectrum of Mucocutaneous Manifestations in 277 Patients With Joint Hypermobility syndrome/Ehlers-Danlos Syndrome, Hypermobility Type." American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, vol. 169C, no. 1, 2015, pp. 43-53.
Castori M, Dordoni C, Morlino S, et al. Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. Am J Med Genet C Semin Med Genet. 2015;169C(1):43-53.
Castori, M., Dordoni, C., Morlino, S., Sperduti, I., Ritelli, M., Valiante, M., ... Colombi, M. (2015). Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. American Journal of Medical Genetics. Part C, Seminars in Medical Genetics, 169C(1), pp. 43-53. doi:10.1002/ajmg.c.31425.
Castori M, et al. Spectrum of Mucocutaneous Manifestations in 277 Patients With Joint Hypermobility syndrome/Ehlers-Danlos Syndrome, Hypermobility Type. Am J Med Genet C Semin Med Genet. 2015;169C(1):43-53. PubMed PMID: 25655071.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Spectrum of mucocutaneous manifestations in 277 patients with joint hypermobility syndrome/Ehlers-Danlos syndrome, hypermobility type. AU - Castori,Marco, AU - Dordoni,Chiara, AU - Morlino,Silvia, AU - Sperduti,Isabella, AU - Ritelli,Marco, AU - Valiante,Michele, AU - Chiarelli,Nicola, AU - Zanca,Arianna, AU - Celletti,Claudia, AU - Venturini,Marina, AU - Camerota,Filippo, AU - Calzavara-Pinton,Piergiacomo, AU - Grammatico,Paola, AU - Colombi,Marina, Y1 - 2015/02/05/ PY - 2015/2/7/entrez PY - 2015/2/7/pubmed PY - 2015/12/17/medline KW - Ehlers-Danlos syndrome hypermobility type KW - atrophic scar KW - diagnostic criteria KW - lingual and oral frenula KW - skin hyperextensibility SP - 43 EP - 53 JF - American journal of medical genetics. Part C, Seminars in medical genetics JO - Am J Med Genet C Semin Med Genet VL - 169C IS - 1 N2 - 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. SN - 1552-4876 UR - https://www.unboundmedicine.com/medline/citation/25655071/Spectrum_of_mucocutaneous_manifestations_in_277_patients_with_joint_hypermobility_syndrome/Ehlers_Danlos_syndrome_hypermobility_type_ L2 - https://doi.org/10.1002/ajmg.c.31425 DB - PRIME DP - Unbound Medicine ER -