Ruppel Tyler, Forbes Kaprive Jessica, Heydari-Kamjani Milad, Kesselman Marc M
Medicine, Nova Southeastern University Dr. Kiran C. Patel College of Osteopathic Medicine, Fort Lauderdale, USA.
Dermatology, HCA Lewisgale Montgomery Hospital, Blacksburg, USA.
Cureus. 2022 Mar 12;14(3):e23102. doi: 10.7759/cureus.23102. eCollection 2022 Mar.
We present a case of anti-melanoma differentiation-associated gene 5 (Anti-MDA5) dermatomyositis (DM) in a 30-year-old female. Anti-MDA5 dermatomyositis, previously termed clinically amyopathic dermatomyositis, was first recognized in 2005. Most cases present with varying combinations of cutaneous and oral ulcerations, palmar papules, respiratory symptoms, and minor muscle involvement (most commonly in the shoulders, upper arms, hips, thighs, and neck). This subtype of disease is most notable for its association with an increased risk of rapidly progressive interstitial lung disease. Our patient presented initially with only complaints of cutaneous ulcerations on the dorsal aspect of her hands. Following several months of no true diagnosis, she developed muscle weakness and joint pain. This led to retrieval of a punch biopsy which suggested anti-MDA5 DM at the top of the differential diagnoses. Immunoprecipitation revealed the presence of melanoma differentiation-associated gene 5 (MDA5) antibodies, confirming the diagnosis of anti-MDA5 dermatomyositis. This case demonstrates the importance of pinpointing the diagnosis of this rare disease subtype in a timely manner to prevent a fatal course, and we hope to inform dermatologists, rheumatologists, pulmonologists, and internists alike of the uncommon presentation of anti-MDA5 in an unsuspected, young patient.
我们报告一例30岁女性的抗黑色素瘤分化相关基因5（Anti-MDA5）皮肌炎（DM）。抗MDA5皮肌炎，以前临床上称为无肌病性皮肌炎，于2005年首次被认识。大多数病例表现为皮肤和口腔溃疡、掌丘疹、呼吸道症状以及轻微肌肉受累（最常见于肩部、上臂、臀部、大腿和颈部）的不同组合。这种疾病亚型最显著的特点是与快速进展性间质性肺病风险增加有关。我们的患者最初仅主诉手部背侧皮肤溃疡。经过数月未明确诊断后，她出现了肌肉无力和关节疼痛。这促使进行了一次打孔活检，结果提示抗MDA5 DM在鉴别诊断中位居前列。免疫沉淀显示存在黑色素瘤分化相关基因5（MDA5）抗体，从而确诊为抗MDA5皮肌炎。该病例表明及时明确这种罕见疾病亚型的诊断对于预防致命病程的重要性，我们希望告知皮肤科医生、风湿病学家、肺科医生和内科医生，抗MDA5在一名未被怀疑的年轻患者中的不常见表现。
