Chamli Amal, Zaouak Anissa, Frioui Refka, Fenniche Samy, Hammami Houda
Dermatology Department Habib Thameur Hospital Tunis Tunisia.
Faculty of medicine of Tunis, University of Tunis El Manar Tunis Tunisia.
Clin Case Rep. 2023 Mar 4;11(3):e7024. doi: 10.1002/ccr3.7024. eCollection 2023 Mar.
Familial hypercholesterolemia (FH) is a rare but life-threatening disorder. Skin manifestations can be its only manifestation. We present a case of a fifteen-year-old female child, with multiple eruptive xanthomas, xanthomas anarcus, and a deranged lipid profile consistent with FH. The presence of this manifestation especially in the younger age group should draw attention to hypercholesterolemia. A timely diagnosis is fundamental to prevent serious complications and for early treatment.
家族性高胆固醇血症（FH）是一种罕见但危及生命的疾病。皮肤表现可能是其唯一的表现形式。我们报告一例15岁女童病例，她有多发疹性黄瘤、无脂性黄瘤，且血脂谱紊乱，符合家族性高胆固醇血症。这种表现的出现，尤其是在较年轻的年龄组中，应引起对高胆固醇血症的关注。及时诊断对于预防严重并发症和早期治疗至关重要。
