PHENOTYPIC OVERLAP OF EHLERS-DANLOS SYNDROME TYPE-IV AND TYPE-VIII
PHENOTYPIC OVERLAP OF EHLERS-DANLOS SYNDROME TYPE-IV AND TYPE-VIII
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DOI：
10.1002/ajmg.1320370408
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发表时间：
1990-12-01
期刊：
影响因子：
--
通讯作者：
KOUSSEFF, BG
中科院分区：
文献类型：
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作者：
HARTSFIELD, JK;KOUSSEFF, BG
一名18岁的高加索女性从12岁起就因易擦伤和“香烟纸疤痕”的埃勒斯-丹洛斯综合征(EDS)而被跟踪观察。17岁时，她的主要症状是牙齿松动，特别是下颌前牙，需要拔除四颗门牙。对培养的皮肤成纤维细胞的初步生化分析表明，存在胃酶敏感的III型胶原。随后，由同一实验室和另一实验室对培养的皮肤成纤维细胞进行的分析发现，无论是否进行蛋白酶处理，III型胶原都没有异常。这与仅有两例EDS和早发性牙周炎患者进行了胶原分析后发现的III型胶原异常是不同的。其中1例被诊断为EDS IV型，另1例被诊断为EDS VII型，但III型胶原的缺陷与EDS IV型和的临床表现有相当大的重叠性，提示早期牙周炎患者中EDS IV型或的III型胶原的形成和成熟值得进一步研究。
An 18-year-old Caucasian woman has been followed since age 12 years for Ehlers-Danlos syndrome (EDS) with easy bruisability and "cigarette paper scars." Her chief complaint at age 17 years was tooth mobility, especially in the anterior mandible, necessitating the removal of the four incisors. Initial biochemical analysis of cultured skin fibroblasts indicated the presence of pepsin-sensitive type III collagen. Subsequent analysis of cultured skin fibroblasts by the same laboratory and another laboratory found no abnormality in the type III collagen with or without protease treatment. This is in distinction to the finding of abnormal type III collagen in the only two reported patients with EDS and early-onset periodontitis who have had collagen analyses. One of them was diagnosed as EDS type IV and the other as EDS type VII, although the defects of type III collagen were consistent with EDS type IV. The defect in type III collagen in some patients with early periodontitis and the considerable overlap of the clinical manifestations of EDS types IV and VIII point out the need for further studies of collagen formation and maturation in any patient who has early periodontitis and who has been classified with EDS type IV or VIII.