Vaidya S, Tyring S K, Johnson L B, Fine J D
Department of Pathology, University of Texas Medical Branch, Galveston.
Arch Dermatol. 1991 Oct;127(10):1524-7.
--Epidermolysis bullosa refers to a group of genetic diseases characterized by marked skin fragility and blister formation following minor mechanical trauma. The patients with recessive dystrophic epidermolysis bullosa (RDEB) are the most severely affected with marked internal and external blistering, scarring, and death at an early age, secondary to malnutrition, septicemia, and/or metastatic squamous cell carcinoma. An association between RDEB and HLA antigens was explored in 28 patients with RDEB and their family members.
--Our data demonstrate that susceptibility to develop RDEB may be associated with the HLA complex. The gene frequencies of DR4 and DQw3 were much higher in the patients than expected. These increases were likely due to statistically significant excess of DR4 and DQw3 homozygotes in the patients. In addition, the observed frequencies of two HLA haplotypes: Bw62, DR4, DQw3 and Bw60, DR4, DQw3 were significantly higher than expected.
--If these observations are confirmed in the larger series of patients, the association between RDEB and HLA complex may have clinical utility in genetic counseling of siblings of child-bearing age who are at risk of being carriers of RDEB.
大疱性表皮松解症是一组遗传性疾病，其特征为在轻微机械创伤后皮肤显著脆弱并形成水疱。隐性营养不良型大疱性表皮松解症（RDEB）患者受影响最为严重，会出现明显的内外水疱、瘢痕形成，且因营养不良、败血症和/或转移性鳞状细胞癌在早年死亡。我们对28例RDEB患者及其家庭成员进行了RDEB与HLA抗原之间关联的研究。
我们的数据表明，发生RDEB的易感性可能与HLA复合体有关。患者中DR4和DQw3的基因频率远高于预期。这些增加可能是由于患者中DR4和DQw3纯合子在统计学上显著过量。此外，观察到的两种HLA单倍型：Bw62、DR4、DQw3和Bw60、DR4、DQw3的频率显著高于预期。
如果在更多患者中证实这些观察结果，RDEB与HLA复合体之间的关联可能在对有RDEB携带者风险的育龄同胞进行遗传咨询时具有临床应用价值。
