From Bedside to Molecular Diagnosis-Multidisciplinary Treatment of a Rare Case of Autoinflammatory Disease Presenting with Skin Induration and Limb Weakness

Hanhui FU; Wenjun WANG; Yaping LIU; Hui YOU; Tao WANG; Wen ZHANG; Xuejun ZENG; Liying CUI; Huijuan ZHU; Xiuli ZHAO; Min SHEN; Yicheng ZHU

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From Bedside to Molecular Diagnosis-Multidisciplinary Treatment of a Rare Case of Autoinflammatory Disease Presenting with Skin Induration and Limb Weakness

VernacularTitle:从床旁到分子诊断——一例以皮肤硬肿、肢体无力为表现的罕见自身炎症性疾病的多学科诊疗
Author: Hanhui FU ¹ ; Wenjun WANG ¹ ; Yaping LIU ² ; Hui YOU ³ ; Tao WANG ⁴ ; Wen ZHANG ⁵ ; Xuejun ZENG ⁶ ; Liying CUI ¹ ; Huijuan ZHU ⁷ ; Xiuli ZHAO ² ; Min SHEN ⁸ ; Yicheng ZHU ¹
Author Information

1. Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
2. Medical Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
3. Department of Radiology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
4. Department of Dermatology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
5. Department of Rheumatology and Clinical Immunology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
6. Department of General Medicine, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
7. Department of Endocrinology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
8. Medical Center for Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;Department of Rare Diseases, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences & Peking Union Medical College, Beijing 100730, China;.
Publication Type:Journal Article
Keywords: autoinflammatory diseases; neurocutaneous syndromes; panniculitis; type Ⅰ interferonopathy; multidisci-plinary treatment
From: JOURNAL OF RARE DISEASES 2026;5(2):207-213
CountryChina
Language:Chinese
Abstract:
This article reports a rare case of autoinflammatory disease presenting initially with skin induration and swelling after trauma as the initial manifestation, followed by progressive limb weakness. The patient was a middle-aged female who developed skin induration and swelling after trauma, which gradually progressed to limb weakness, dysarthria and bilateral facial paralysis, accompanied by livedo reticularis of the lower extremities, diffuse skin induration of the limbs, and beaded subcutaneous nodules in the right upper limb. The patient had a susceptibility to infection since childhood and a history of chronic livedo reticularis. Skin pathological examination revealed panniculitis. A comprehensive etiological screening for special infections and autoimmune diseases was completed with an unremarkable results, and whole-exome sequencing showed no abnormal findings. Following a multidisciplinary discussion combined with RNA sequencing results, the patient was diagnosed with an autoinflammatory disease, with a suspected type Ⅰ interferonopathy. Treatment with tofacitinib resulted in gradual improvement of clinical symptoms. This case highlights the importance of detailed medical history collection, systematic physical examination and multidisciplinary collaborative diagnosis and treatment, and underscores the pivotal role of molecular diagnosis in the confirmation of rare diseases. It can provide a reference for the clinical diagnosis and management of similar rare cases.