Spectrum of Mucocutaneous Manifestations in 277 Patients with Joint Hypermobility Syndrome/Ehlers-Danlos Syndrome, Hypermobility Type

被引:23
|
作者
Castori, Marco [1 ]
Dordoni, Chiara [3 ]
Morlino, Silvia [5 ]
Sperduti, Isabella [6 ]
Ritelli, Marco [3 ,7 ]
Valiante, Michele [4 ,5 ]
Chiarelli, Nicola [2 ,3 ]
Zanca, Arianna [8 ,9 ]
Celletti, Claudia [10 ]
Venturini, Marina [11 ]
Camerota, Filippo [10 ]
Calzavara-Pinton, Piergiacomo [11 ,12 ,13 ]
Grammatico, Paola [5 ,14 ]
Colombi, Marina [7 ,15 ,16 ]
机构
[1] San Camillo Forlanini Hosp, Rome, Italy
[2] Univ Brescia, Sch Med, Med Genet, I-25123 Brescia, Italy
[3] Univ Brescia, Dept Mol & Translat Med, Div Biol & Genet, I-25123 Brescia, Italy
[4] Univ Roma La Sapienza, Med Genet, Rome, Italy
[5] San Camillo Hosp, Div Med Genet, Rome, Italy
[6] IRCCS IFO Inst Rome, Div Epidemiol, Rome, Italy
[7] Univ Brescia, Sch Med, Med Genet, I-25123 Brescia, Italy
[8] Univ Brescia, Dermatol, I-25123 Brescia, Italy
[9] Spedali Civili Univ Hosp, Dept Clin & Expt Sci, Div Dermatol, Brescia, Italy
[10] Umberto I Univ Hosp, Div Phys Med & Rehabil, Rome, Italy
[11] Spedali Civili Univ Hosp, Dept Clin & Expt Sci, Div Dermatol, Brescia, Italy
[12] Spedali Civili Univ Hosp, Dermatol, Brescia, Italy
[13] Spedali Civili Univ Hosp, Postgrad Sch Dermatol, Brescia, Italy
[14] Univ Roma La Sapienza, Med Genet, I-00185 Rome, Italy
[15] Univ Brescia, Sch Med, Div Biol & Genet, Dept Mol & Translat Med, I-25123 Brescia, Italy
[16] Univ Brescia, Sch Med, Postgrad Sch Med Genet, I-25123 Brescia, Italy
关键词
Ehlers-Danlos syndrome hypermobility type; diagnostic criteria; atrophic scar; skin hyperextensibility; lingual and oral frenula; LINGUAL FRENULA; NATURAL-HISTORY; SKIN EXTENSIBILITY; CRITERIA; ABSENCE; MOBILITY; CONSENSUS; NOSOLOGY; TESTS; NEED;
D O I
10.1002/ajmg.c.31425
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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. (c) 2015 Wiley Periodicals, Inc.
引用
收藏
页码:43 / 53
页数:11
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