Pau-Charles I, Moreno P J, Ortiz-Ibáñez K, Lucero M C, Garcia-Herrera A, Espinosa G, Nicolás J M, Castro P, Grau J M, Casciola-Rosen L, Mascaró J M
J Eur Acad Dermatol Venereol. 2014 Aug;28(8):1097-1102. doi: 10.1111/jdv.12300.
Anti-MDA5 (Melanoma differentiation-associated gene 5) positive dermatomyositis is a new variant of clinically amyopathic dermatomyositis that presents with characteristic mucocutaneous findings and is associated with a higher risk of developing rapidly progressive interstitial lung disease. Because its presentation differs from that of classical dermatomyositis, this entity can be a diagnostic challenge for the clinician.
METHODS & RESULTS: We present the case of a 55-year-old male with a 7-month history of chill sensation, constitutional symptoms and polyarthralgia. Within 3 months, the patient developed progressive heart failure with dyspnoea and orthopnoea, together with characteristic cutaneous lesions. Skin biopsies demonstrated thrombosis of small and medium-sized arteries in the reticular dermis, together with an evolved lobular panniculitis and prominent mucin deposits.
Clinicians should be aware of the characteristic clinical and histopathologic presentation of this variant of dermatomyositis to establish an early diagnosis. Further evidence is needed to clarify the risk of cardiac involvement in this subset of patients.
抗黑色素瘤分化相关基因5（MDA5）阳性皮肌炎是临床无肌病性皮肌炎的一种新变体，具有特征性的黏膜皮肤表现，且发生快速进展性间质性肺病的风险较高。由于其表现与经典皮肌炎不同，该实体对临床医生而言可能是一项诊断挑战。
我们报告了一例55岁男性患者，有7个月的寒战感、全身症状和多关节痛病史。在3个月内，患者出现进行性心力衰竭，伴有呼吸困难和端坐呼吸，以及特征性皮肤病变。皮肤活检显示网状真皮中小动脉血栓形成，同时伴有进展期小叶性脂膜炎和显著的黏液沉积。
临床医生应了解这种皮肌炎变体的特征性临床和组织病理学表现，以便早期诊断。需要进一步的证据来阐明该亚组患者心脏受累的风险。
