摘要
2个月零29 d龄男性患儿,全身红斑、脱屑2个月余,加重20 d.全身皮肤弥漫性潮红,头面部大量脂痂及鳞屑,躯干及四肢大片叶状脱屑.血乳酸8.7 mmol/L,尿液3-羟基-异戊酸31.1μmol/L、3-甲基巴豆酰甘氨酸-16.5μmol/L、3-甲基巴豆酰甘氨酸-278.5μmol/L、甲基巴豆酰甘氨酸15.8μmol/L;血串联质谱示3-羟基异戊酰肉碱9.84μmol/L.诊断:全羧化酶合成酶缺乏症.口服生物素10 mg每日1次,3 d后加量至20 mg每日1次,共治疗6周,皮损明显好转.
An 89-day-old male infant presented with generalized erythema and scales for two months and aggravated for 20 days.Physical examination showed that the skin of the whole body diffusely flushed,with a large amount of fat scabs and scales on the head and face,and large foliaceous scales on the trunk and limbs.The blood lactic acid was 8.7 mmol/L,urine organic acid test showed 3-hydroxy-isovalerate31.1 μmol/L,3-methylcrotonyl-glycine-1 6.5 μmol/L, 3-methylcrotonyl-glycine-2 78.5μmol/L, and methylcrotonyl glycine 15.8μmol/L.Blood tandem mass spectrometry showed 3-hydroxy-isoamyl camitine 9.84μmol/L.Diagnosis:holocarboxylase synthetase deficiency.The patient was treated by oral biotin 10 mg/d,3 days later,the dosage was increased to 20 mg/d, totally for 6 weeks,and the skin lesions improved significantly.
作者
陈安薇
任发亮
罗晓燕
王华
CHEN An-wei;REN Fa-liang;LUO Xiao-yan(Department of Dematology,Children's Hospital of Chongqing Medical University,Chongqing 400014,China)
出处
《实用皮肤病学杂志》
2021年第1期61-62,64,共3页
Journal of Practical Dermatology
关键词
全羧化酶合成酶缺乏症
红皮病
Holocarboxy lase synthetase deficiency
Erytroderma
作者简介
陈安薇,女,硕士研究生,研究方向:特应性皮炎的诊治,E-mail:chenanwei5@126.com;通讯作者:王华,E-mail:huawang@hospital.cqmu.edu.cn。
