Wagener Marie, Laskas Joseph W, Purcell Stephen, Ermolovich Tanya
Aesthetic Surgery Associates, Allentown, Pennsylvania, USA.
Dermatology Limited, Media, Pennsylvania, USA.
Cutis. 2017 Jun;99(6):421-424.
Muckle-Wells syndrome (MWS) is a rare disorder inherited in an autosomal-dominant fashion that belongs to a group of hereditary periodic fever syndromes. It specifically belongs to the cryopyrin-associated periodic syndromes (CAPSs) in which there is a mutation in the NLRP (NLR family pyrin domain containing 3) gene that leads to overproduction of IL-1β, the source of the multisystem inflammatory symptoms. Muckle-Wells syndrome is characterized by a recurrent urticarial eruption that is associated with episodic fever, myalgia, arthralgia, malaise, progressive sensorineural hearing loss, and amyloid nephropathy (the most severe complication). Basal cell nevus syndrome (BCNS), or Gorlin syndrome, is a rare, autosomal-dominant inherited genodermatosis linked to a mutation in the PTCH (patched 1) gene and is characterized by a broad range of anomalies. We report the case of a patient with MWS and BCNS in whom basal cell carcinoma (BCC) treatment was complicated by symptoms of MWS.
穆克-韦尔斯综合征（MWS）是一种以常染色体显性方式遗传的罕见疾病，属于遗传性周期性发热综合征组。它具体属于冷吡啉相关周期性综合征（CAPS），其中NLRP（含NLR家族pyrin结构域3）基因发生突变，导致IL-1β过度产生，这是多系统炎症症状的根源。穆克-韦尔斯综合征的特征是反复发作的荨麻疹样皮疹，伴有间歇性发热、肌痛、关节痛、不适、进行性感音神经性听力丧失和淀粉样肾病（最严重的并发症）。基底细胞痣综合征（BCNS），又称戈林综合征，是一种罕见的常染色体显性遗传性遗传性皮肤病，与PTCH（patched 1）基因的突变有关，其特征是存在广泛的异常。我们报告了一例患有MWS和BCNS的患者，其基底细胞癌（BCC）治疗因MWS症状而复杂化。
