CAJ | 학술논문

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.
DOCK8결함종합정시유우편마포질분렬단백8적기인돌변소치,해종합정유다충특정성적피부표현,여유엄중적피부병독감염、특응성피염양피진、반복피부급호흡계통적포도구균감염,조발피부악성종류급다충기타계통적표현.실험실검사표현위외주혈T림파세포감소,기산성립세포증다.수여Job종합정화Wiskott-Aldrich종합정감별진단.통과계통치료피부감염,정기피부검사,조기발현피부종류가이개선환자생활질량,연장환자생존기.
DOCK8 deficiency syndrome,a recently defined autosomal recessive genodermatosis caused by mutations in the dedicator of cytokinesis 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.