Hailey-Hailey病是1939年描述的一种罕见的遗传性皮肤病,具有常染色体显性遗传模式,以表皮角质形成细胞之间粘附受损为特征。它的患病率估计为1/50,000,没有性别或种族偏爱。它来自ATP2C1基因的杂合突变,编码跨膜蛋白hSPA1C,存在于所有组织中,在角质形成细胞中优先表达。ATP2C1基因的突变导致连接蛋白合成的变化,导致棘皮松解术.它通常从成年开始,生活极端的孤立病例。它表现为主要在弯曲区域的膀胱大疱性病变,发展成侵蚀和结壳。慢性病变可形成营养性或疣状斑块。瘙痒,烧灼感和疼痛是常见的。它随着缓解和恶化的时期而发展,通常由湿度触发,摩擦,热,创伤和继发感染。诊断基于临床和组织病理学标准:明显的鼻上棘皮松解,松散连接的角质形成细胞,看起来像“破旧的砖墙”,有一些变态反应性细胞。棘皮松解影响表皮并保留附件上皮,这有助于寻常型天疱疮的鉴别诊断。直接免疫荧光为阴性。主要的鉴别诊断是达里尔病,天疱疮素食者,intertrigo,接触性皮炎,和反向牛皮癣。没有治愈方法,治疗具有挑战性,包括控制热量的措施,汗水和摩擦,局部用药(皮质类固醇,钙调磷酸酶抑制剂,抗生素),全身药物(抗生素,皮质类固醇,免疫抑制剂,类维生素A和免疫生物学)和程序,例如肉毒杆菌毒素,激光和手术。缺乏对照临床试验来支持选择最佳治疗方法。
Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes. It has an estimated prevalence of 1/50,000, with no gender or race predilection. It results from a heterozygous mutation in the ATP2C1 gene, which encodes the transmembrane protein hSPA1C, present in all tissues, with preferential expression in keratinocytes. Mutations in the ATP2C1 gene cause changes in the synthesis of junctional proteins, leading to acantholysis. It usually begins in adulthood, with isolated cases at the extremes of life. It manifests as vesico-bullous lesions mainly in the flexural areas, which develop into erosions and crusts. Chronic lesions may form vegetative or verrucous plaques. Pruritus, a burning feeling and pain are common. It evolves with periods of remission and exacerbation, generally triggered by humidity, friction, heat, trauma and secondary infections. The diagnosis is based on clinical and histopathological criteria: marked suprabasal acantholysis, loosely joined keratinocytes, giving the appearance of a \"dilapidated brick wall\", with a few dyskeratotic cells. The acantholysis affects the epidermis and spares the adnexal epithelia, which helps in the differential diagnosis with pemphigus vulgaris. Direct immunofluorescence is negative. The main differential diagnoses are Darier disease, pemphigus vegetans, intertrigo, contact dermatitis, and inverse psoriasis. There is no cure and the treatment is challenging, including measures to control heat, sweat and friction, topical medications (corticosteroids, calcineurin inhibitors, antibiotics), systemic medications (antibiotics, corticosteroids, immunosuppressants, retinoids and immunobiologicals) and procedures such as botulinum toxin, laser and surgery. There is a lack of controlled clinical trials to support the choice of the best treatment.