Rodríguez-Gutiérrez Jesús Sebastián, Tirado-Motel Antonio, Sarabia-Esquerra Jesús Leonel, Urtuzuástegui-Gastelum Atziry Sarahi, Germán-Rentería Ángel Alfonso
Instituto de Seguridad y Servicios Sociales de los Trabajadores del Estado, Hospital Regional "Dr. Manuel Cárdenas de la Vega", Servicio de Dermatología. Culiacán, Sinaloa, México.
Rev Med Inst Mex Seguro Soc. 2024 Jan 8;62(1):1-5. doi: 10.5281/zenodo.10278169.
Hailey-Hailey disease is a rare autosomal dominant genodermatosis whose cause is the ATP2C1 gene mutation. A prevalence of 1 in 50,000 cases is estimated and it manifests as grouped flaccid vesicles that break easily. The diagnosis is confirmed with the histopathological study creating an appearance called "dilapidated brick wall", identifying dyskeratosis in the form of round bodies and pimples. Treatment ranges from general measures to multiple pharmacological options, with topical corticosteroids being the most commonly used.
Male patient diagnosed with Hailey-Hailey disease. On physical examination we observed a dermatosis disseminated to the neck, trunk, axillary and inguinal folds, and intergluteal region, unilateral, asymmetric with a polymorphous appearance, constitution due to exulceration, erythema, some pustules and flaccid vesicles that coalesced to form eczematous and hypertrophic plaques with the presence of fine scales on their surface, with a chronic evolution accompanied by pruritus. We also took the opportunity to review the most relevant information in the literature regarding Hailey-Hailey disease, especially focused on the therapeutic aspect.
It is important to take into account that Hailey-Hailey disease is a rare pathology, in order to make a differential diagnosis in daily clinical practice.
黑利-黑利病是一种罕见的常染色体显性遗传性皮肤病，其病因是ATP2C1基因突变。据估计，其患病率为1/50000，表现为易破裂的群集性松弛水疱。通过组织病理学研究确诊，其表现为“破败砖墙”外观，可识别出圆形小体和丘疹形式的角化不良。治疗方法从一般措施到多种药物选择，外用糖皮质激素是最常用的。
一名被诊断为黑利-黑利病的男性患者。体格检查时，我们观察到一种皮肤病，分布于颈部、躯干、腋窝和腹股沟褶皱以及臀间区域，单侧、不对称，外观多样，因溃疡、红斑、一些脓疱和松弛水疱而形成，这些水疱融合形成湿疹样和肥厚性斑块，表面有细鳞屑，病程慢性，伴有瘙痒。我们还借此机会回顾了文献中关于黑利-黑利病的最相关信息，尤其侧重于治疗方面。
在日常临床实践中进行鉴别诊断时，必须考虑到黑利-黑利病是一种罕见的疾病。
