Mesh : Child Cholesterol Female Histiocytosis / diagnosis Humans Hypercholesterolemia Intestinal Diseases Lipid Metabolism, Inborn Errors Phytosterols / adverse effects Sitosterols / metabolism Skin Diseases / diagnosis Xanthomatosis / diagnosis metabolism

来  源:   DOI:10.1097/DAD.0000000000002248

Abstract:
UNASSIGNED: We report a noteworthy case of a 10-year-old girl who presented with papular and nodular lesions on the skin that were clinically and histologically mistaken for progressive nodular histiocytosis. During the clinical management of the patient, the high lipid levels raised the suspicion of lipid metabolism disease and helped us to make the correct diagnosis of sitosterolemia. In sitosterolemia, proper management such as restriction of plant sterol intake and administration of cholesterol absorption inhibitor can improve prognosis.
摘要:
未经证实:我们报告了一个值得注意的10岁女孩,她的皮肤上出现丘疹和结节性病变,在临床和组织学上被误认为是进行性结节性组织细胞增多症。在患者的临床管理中,高血脂水平增加了对脂质代谢疾病的怀疑,并帮助我们做出正确的诊断。在谷甾醇血症中,适当的管理,如限制植物甾醇的摄入和服用胆固醇吸收抑制剂可以改善预后。
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