De Paepe A
Department of Medical Genetics, University Hospital, Ghent, Belgium.
Dermatology. 1994;189 Suppl 2:21-5. doi: 10.1159/000246984.
The clinical, biochemical and molecular characteristics of Ehlers-Danlos syndrome type IV are reviewed. The numerous clinical manifestations result from the generalized and excessive tissue fragility characteristic for this disorder. The variability in cutaneous involvement may hamper recognition of the condition and requires careful clinical examination. Clinical diagnosis can be confirmed by demonstration of a collagen type III defect. The severity of the phenotype appears to be related mainly to the intrinsic stability of mutant type III collagen protein and its disturbing effect on normal collagen fibrillogenesis in the extracellular matrix.
本文综述了IV型埃勒斯-当洛综合征的临床、生化及分子特征。该疾病具有广泛且过度的组织脆性，由此产生了众多临床表现。皮肤受累情况的变异性可能会妨碍对该病的识别，因此需要进行仔细的临床检查。通过证实III型胶原蛋白缺陷可确诊临床诊断。表型的严重程度似乎主要与突变型III型胶原蛋白的内在稳定性及其对细胞外基质中正常胶原纤维形成的干扰作用有关。
