Rincón-Sánchez Ana Rosa, Arce Irma Elia, Tostado-Rabago Enrique Alejandro, Vargas Alberto, Padilla-Gómez Luis Alfredo, Bolaños Alejandro, Barrios-Guyot Selenne, Anguiano-Alvarez Víctor Manuel, Ledezma-Rodríguez Víctor Chistian, Islas-Carbajal María Cristina, Rivas-Estilla Ana María, Feria-Velasco Alfredo, Dávalos Nory Omayra
Case Rep Dermatol. 2012 Jan;4(1):104-13. doi: 10.1159/000338277. Epub 2012 Apr 20.
Ehlers-Danlos syndrome (EDS) is a heterogeneous group of heritable connective tissue disorders whose primary clinical features include soft and extensible skin, articular hypermobility and tissue fragility. EDS type VIIC or 'human dermatosparaxis' is an autosomal recessive disease characterized by severe skin fragility and sagging redundant skin (major criteria) with a soft, doughy texture, easy bruising, premature rupture of fetal membranes and large hernias (minor criteria). Dermatosparaxis (meaning 'tearing of skin'), which has been described in several non-human species, is a disorder of the connective tissue resulting from a deficiency of the enzyme that cleaves the registration peptide off the N-terminal end of collagen after it has been secreted from fibroblasts. We describe a Mexican case from consanguineous parents with all the phenotypical characteristics previously described, plus skeletal abnormalities.
埃勒斯-当洛综合征（EDS）是一组遗传性结缔组织疾病的统称，其主要临床特征包括皮肤柔软且有延展性、关节活动过度以及组织脆弱。VII型C型埃勒斯-当洛综合征（EDS VIIC）或“人类皮肤松垂症”是一种常染色体隐性疾病，其特征为严重的皮肤脆弱和皮肤松弛冗余（主要标准），质地柔软如面团，易出现瘀伤，胎膜过早破裂以及大疝气（次要标准）。皮肤松垂症（意为“皮肤撕裂”）已在多种非人类物种中有所描述，它是一种结缔组织疾病，由成纤维细胞分泌胶原蛋白后负责从其N端切除前肽的酶缺乏所致。我们描述了一例来自近亲结婚父母的墨西哥病例，该病例具有先前描述的所有表型特征，另外还有骨骼异常。
