Cho Sung Kyung, Ashworth Lisa Diggs, Goldman Shauna
University of Texas Southwestern Medical School, Dallas, Texas.
Department of Pharmacy, Children's Health System of Texas, Dallas, Texas.
Int J Pharm Compd. 2020 Sep-Oct;24(5):367-369.
Congenital ichthyoses are a heterogeneous group of genetic skin disorders characterized by defects in the critical barrier function of the skin. These life-long conditions present a significant therapeutic challenge in dermatology. One important example is Congenital Hemidysplasia with Ichthyosiform erythroderma and Limb Defects, or CHILD syndrome. This is a rare congenital ichthyosis caused by mutations in cholesterol biosynthesis. With limited success, the cutaneous features of this condition have historically been managed symptomatically with emollients, topical keratolytics, and topical steroids. However, over the last decade, topical therapy directed at the pathogenesis of this condition has emerged as an effective treatment. Herein, we report a case of successful treatment of the cutaneous features of CHILD syndrome with compounded simvastatin and cholesterol gel and highlight the role of the compounding pharmacist in the care of patients with congenital ichthyosis.
先天性鱼鳞病是一组遗传性皮肤疾病,其特征是皮肤的关键屏障功能存在缺陷。这些终身性疾病在皮肤科治疗中面临重大挑战。一个重要的例子是先天性半侧发育不良伴鱼鳞病样红皮病和肢体缺陷,即CHILD综合征。这是一种由胆固醇生物合成突变引起的罕见先天性鱼鳞病。在历史上,这种疾病的皮肤症状一直通过使用润肤剂、外用角质溶解剂和外用类固醇进行对症治疗,但效果有限。然而,在过去十年中,针对这种疾病发病机制的局部治疗已成为一种有效的治疗方法。在此,我们报告一例使用复方辛伐他汀和胆固醇凝胶成功治疗CHILD综合征皮肤症状的病例,并强调了配制药剂师在先天性鱼鳞病患者护理中的作用。