Department of Allergy, Immunology and Rheumatology, Mackay Children's Hospital, Taipei, Taiwan; Department of Pediatrics, Yonghe Cardinal Tien Hospital, New Taipei City, Taiwan.
Department of Allergy, Immunology and Rheumatology, Mackay Children's Hospital, Taipei, Taiwan; Mackay Medical College, New Taipei City, Taiwan.
J Formos Med Assoc. 2021 Aug;120(8):1642-1646. doi: 10.1016/j.jfma.2021.02.006. Epub 2021 Feb 24.
Hereditary angioedema (HAE) is an autosomal dominant disease characterized clinically by recurrent episodes of swelling in the tissues of the extremities, face, abdomen, and respiratory tract. It is most often caused by C1 esterase inhibitor (C1 INH) gene mutation. This swelling may lead to bradykinin release, resulting in recurrent, paroxysmal, painful angioedema. Blister formation is an uncommon cutaneous manifestation of HAE. Herein, we report a case of a patient with HAE who developed linear wrist blisters on her skin, with swelling, as a rare complication of HAE. She was treated with attenuated androgens (Danazol) for two weeks at our clinic, after which the blisters showed dramatic improvement. To date, only a few HAE cases have been reported across the world. Therefore, it is important to focus on and recognize the development of edema blisters as a flare of HAE, which could consequently avoid unnecessary dermatological diagnostic workup and treatment.
遗传性血管性水肿（HAE）是一种常染色体显性遗传病，其临床特征为四肢、面部、腹部和呼吸道组织反复肿胀。它通常由 C1 酯酶抑制剂（C1 INH）基因突变引起。这种肿胀可能导致缓激肽释放，从而导致反复发作、阵发性、疼痛性血管性水肿。水疱形成是 HAE 的一种罕见皮肤表现。在此，我们报告一例 HAE 患者，其皮肤出现线性腕部水疱伴肿胀，这是 HAE 的罕见并发症。在我们的诊所，她接受了雄激素衰减剂（Danazol）治疗两周，此后水疱明显改善。迄今为止，全世界仅报道了少数 HAE 病例。因此，重要的是要关注和认识到水肿性水疱的发展是 HAE 的发作，这可以避免不必要的皮肤科诊断和治疗。
