Teplyuk Natalia, Lepekhova Anfisa, Dunaeva Ekaterina, Smirnov Konstantin, Perunova Anastasia
Department of Dermatology and Venereology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Trubetskaya str, 8, Moscow, Russian Federation.
Department of Dermatology and Venereology, I.M. Sechenov First Moscow State Medical University (Sechenov University), Trubetskaya str, 8, Moscow, Russian Federation.
Photodiagnosis Photodyn Ther. 2023 Dec;44:103738. doi: 10.1016/j.pdpdt.2023.103738. Epub 2023 Aug 8.
Hailey-Hailey disease (HHD) is a rare genetic benign condition resulting in blisters predominantly on the skin folds. The inheritance is autosomal dominant with complete penetrance, but a variable expressivity in affected family members. It can be triggered by a vast variety of factors such as sweating, weight gain, infection, trauma, pregnancy, and ultraviolet radiation, but the major cause of the disease is a mutation in the ATP2C1 gene. The lesions are typically distributed symmetrically within intertriginous regions such as the retroarticular folds, axillae, inguinal, and perianal regions and presents as flaccid vesicles and blisters on erythematous skin, giving rise to erosions, fissures, and vegetations. There is no specific therapy for HHD. The therapeutic approach to HHD involves the control of exacerbating factors, secondary infections, and cutaneous inflammation. Because of the rarity of the disease, evidence of efficacy for topical or systemic therapies is mainly based on small observational studies, case reports, and clinical experience. We present a case of HHD successfully treated by photodynamic therapy (PDT) with a topical liposomal chlorin photosensitizer.
黑利-黑利病(HHD)是一种罕见的遗传性良性疾病,主要在皮肤褶皱处形成水疱。其遗传方式为常染色体显性遗传,具有完全外显率,但在受影响的家庭成员中表现度可变。它可由多种因素触发,如出汗、体重增加、感染、创伤、怀孕和紫外线辐射,但该疾病的主要病因是ATP2C1基因突变。皮损通常对称分布于关节后褶皱、腋窝、腹股沟和肛周等间擦部位,表现为红斑皮肤上的松弛水疱和大疱,可引起糜烂、裂隙和赘生物。HHD尚无特效治疗方法。HHD的治疗方法包括控制加重因素、继发感染和皮肤炎症。由于该疾病罕见,局部或全身治疗的疗效证据主要基于小型观察性研究、病例报告和临床经验。我们报告一例通过使用局部脂质体二氢卟吩光敏剂进行光动力疗法(PDT)成功治疗的HHD病例。