DOCK8缺陷综合征：一种新发现的常染色体隐性遗传性皮肤病

DOCK8 deficiency syndrome：a recently defined autosomal recessive genodermatosis

DOCK8缺陷综合征是由于编码胞质分裂蛋白8的基因突变所致，该综合征有多种特征性的皮肤表现，如有严重的皮肤病毒感染、特应性皮炎样皮疹、反复皮肤及呼吸系统的葡萄球菌感染，早发皮肤恶性肿瘤及多种其他系统的表现。实验室检查表现为外周血T淋巴细胞减少，嗜酸性粒细胞增多。需与Job综合征和Wiskott—Aldrich综合征鉴别诊断。通过系统治疗皮肤感染，定期皮肤检查，早期发现皮肤肿瘤可以改善患者生活质量，延长患者生存期。

DOCK8 deficiency syndrome, a recently defined autosomal recessive genodermatosis caused by mutations in the dedicator of eytokinesis 8 （DOCK8） gene, has many characteristic cutaneous presentations such as severe viral infection, atopic dermatitis-like rashes, and recurrent cutaneous and respiratory staphylococcal infection. It is also associated with early-onset cutaneous malignancy and multiple organ abnormalities. Laboratory examination usually shows peripheral T lymphopenia and eosinophilia. Differential diagnosis should include Job＇s syndrome and Wiskott-Aldrich syndrome. Systematic management of skin infection, regular skin examination, and timely detection of skin cancer may benefit the improvement of life quality and extend life span of patients.