Guillem Philippe, Mintoff Dillon, Kabbani Mariam, Cogan Elie, Vlaeminck-Guillem Virginie, Duquesne Agnes, Benhadou Farida
Department of Surgery, Clinique du Val d'Ouest, Lyon, France.
ResoVerneuil, Paris, France.
Front Immunol. 2022 May 26;13:883811. doi: 10.3389/fimmu.2022.883811. eCollection 2022.
Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmental factors (such as smoking and obesity), gender, genetic predisposition, and skin dysbiosis are considered the main pathogenic drivers of the disease. Autoinflammatory syndromes associated with HS are rare but may help to highlight the potential roles of autoinflammation and dysregulated innate immune system in HS. Therefore, it is of major relevance to increase the awareness about these diseases in order to improve the understanding of the disease and to optimize the management of the patients. Herein, we report for the first time, to our knowledge, two clinical cases of Hyper-IgD syndrome-associated HS. Hyper-IgD is an autoinflammatory syndrome caused by a mevalonate kinase deficiency (MKD), a key kinase in the sterol and isoprenoid production pathway. We describe the potentially shared pathophysiological mechanisms underpinning comorbid MKD-HS and propose therapeutic options for the management of these patients.
化脓性汗腺炎（HS）是一种毛囊皮脂腺单位的慢性化脓性疾病。目前HS的病理生理学模型将该病症描述为毛囊单位角化过度和炎症的产物。环境因素（如吸烟和肥胖）、性别、遗传易感性和皮肤生态失调被认为是该疾病的主要致病驱动因素。与HS相关的自身炎症综合征很少见，但可能有助于突出自身炎症和先天免疫系统失调在HS中的潜在作用。因此，提高对这些疾病的认识对于增进对该疾病的理解和优化患者管理具有重要意义。在此，据我们所知，我们首次报告了两例与高IgD综合征相关的HS临床病例。高IgD是一种由甲羟戊酸激酶缺乏症（MKD）引起的自身炎症综合征，MKD是固醇和类异戊二烯生成途径中的关键激酶。我们描述了合并MKD-HS潜在的共同病理生理机制，并提出了这些患者管理的治疗选择。
