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CORRESPONDENCE
Year : 2023 | Volume
: 41
| Issue : 1 | Page : 42-43
Anti-transcription intermediary factor 1-γ neuromyositis: A case report
Hui-En Chuo1, Hsiao-Yu Li1, Wen-Hsiu Wang2, Yu-Hung Wu3
1 Department of Dermatology, MacKay Memorial Hospital, Taipei, Taiwan
2 Division of Allergy, Immunology and Rheumatology, Department of Internal Medicine, MacKay Memorial Hospital, Taipei; Department of Nursing, MacKay Junior College of Medicine, Nursing and Management; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan
3 Department of Dermatology, MacKay Memorial Hospital, Taipei; Department of Medicine, MacKay Medical College, New Taipei City, Taiwan
Correspondence Address:
Dr. Yu-Hung Wu
Department of Dermatology, MacKay Memorial Hospital, No. 92, Sec. 2, Zhongshan North Road, Taipei 10449
Taiwan
Source of Support: None, Conflict of Interest: None
DOI: 10.4103/ds.DS-D-22-00078
Dear Editor,
Dermatomyositis (DMS) is an idiopathic inflammatory myopathy with variable cutaneous, muscular, and systemic presentations.[1] Aside from the secondary neurologic change of myopathy, neuromyositis (NMS) — a rare form of neurological involvement in DMS – has been reported.[2] DMS-specific antibodies play a role in DMS presentation and prognosis. Herein, we describe a rare case of NMS involving the participation of anti-transcription intermediary factor 1-γ (TIF1-γ).
A 71-year-old man with a history of hypertension, chronic kidney disease, alcohol-related fatty liver disease, and gastroesophageal reflux disease presented to our hospital. He had generalized itchy erythematous skin rash for 6 months and then deveoped a progressive muscle weakness of the thighs with the power grade of 4. Physical examination showed periorbital edema, periungual erythema, erythematous papules and patches with excoriations, and thick crusts on the scalp, trunk, and limbs [Figure 1]a, [Figure 1]b, [Figure 1]c. There is neither Gottron's papule, V sign, nor shawl sign. A skin biopsy from the neck revealed interface dermatitis characterized by basal vacuolar degeneration and necrotic keratinocytes. A mild-to-moderate perivascular infiltration of lymphocytes and plasma cells was observed in the upper dermis [Figure 2]a, [Figure 2]b, [Figure 2]c. Direct immunofluorescence study was noncontributory.
Figure 1: Clinical manifestation. (a and b) Extensive erythematous scaly to crusted patches on the chest, whole back, and upper limbs. (c) Closer view of skin lesion demonstrated eroded to crusted patches
Figure 2: Pathology. (a and b) The skin biopsy showed an interface dermatitis involving the epidermis and (c) perivascular infiltration of lymphocytes and plasma cells. Hemotoxylin and eosin, a: ×40; b: ×100; c: ×400Laboratory data showed elevated glutamic-oxaloacetic transaminase, lactate dehydrogenase, creatine kinase (853 IU/L), C-reactive protein, and antinuclear factor. Further testing for inflammatory myopathy and polyneuropathy-associated antibodies revealed the presence of TIF1-γ antibodies (2+) only. A muscle biopsy showed a chronic myopathic change with perifascicular atrophy. He also complained of numbness in his fingers for years, which gradually spread to the upper limbs. A nerve conduction study showed a moderate mixed sensorimotor polyneuropathy in both upper and lower extremities. Electromyography showed a chronic neuropathic change with a probable myopathic change. He was diagnosed with anti-TIF1-γ DMS with peripheral polyneuropathy.
He was hospitalized for tumor investigation. Nasopharyngeal examination, chest computed tomography, and blood test of tumor markers did not show any evidence of concurrent cancer. Abdominal computed tomography revealed focal thickening of the esophagus. Panendoscopy and biopsy of the stomach revealed chronic ulcers. He received pulse steroid therapy and plasmapheresis. The skin rash was gradually ameliorated by the continuous oral steroid treatment, but muscle power remained decreased. Unfortunately, advanced esophageal squamous cell carcinoma with gallbladder metastasis was found 4 months later. He underwent surgery and chemotherapy; however, his condition worsened, and he died 2 months after the diagnosis of cancer.
Our patient had DMS with peripheral polyneuropathy and anti-TIF1-γ antibodies. Compared with other DMS-specific antibodies, patients with anti-TIF1-γ antibodies exhibit more severe cutaneous manifestation, mucosal findings, hypomyopathic disease, gastrointestinal involvement, and a higher risk of developing solid or hematologic malignancies.[1] A previous study showed that peripheral neuropathy in DMS is associated with cancer, connective tissue diseases, and diabetes.[3] Nevertheless, a very few studies have been reported on the NMS with DMS-specific antibodies. One case report described a patient with anti-melanoma differentiation-associated protein 5-positive amyopathic DMS, preceded by anti-ganglioside-monosilicic acid 1 immunoglobulin M antibody-positive peripheral neuropathy.[4] Our patient had peripheral neuropathy preceding the development of skin rash and malignancy, suggesting that patients with NMS and anti-TIF1-γ antibodies need a detailed surveillance to check for internal malignancy.
Peripheral neuropathy is an uncommon manifestation of DMS. Wang et al. performed nerve conduction studies in patients with DMS and polymyositis and reported abnormal findings in 38% of these patients.[3] However, only 7.5% of the patients had peripheral polyneuropathy.[3] The neuropathy in DMS was predominantly axonal degeneration.[3],[4],[5] Demyelinating polyneuropathy might result from malignancy or an immune reaction, while axonal degeneration is caused by vasculitis.[3],[4] In our case, the neuropathy demonstrated both axonal degeneration and demyelination of sensory and motor nerves; the coexistence of both neuropathic types might imply a potential complicated mechanism of the NMS.
The pathogenesis of NMS is still not clear. Previous studies on nerve pathology have shown reduced density and formation of complex tufts of epidermal nerve fibers,[6] overproduction of vascular endothelial growth factor,[7] vasculitic change, and deposits of the membrane attack complement complex[8] in patients with NMS. However, these findings were heterogeneous and inconsistently reported, which did not explain the pathomechanism of autoantibodies or malignancy.
No consensus has yet been reached on the treatment protocol for neuropathy in DMS. The current treatment strategies are based on inflammatory myositis, including oral prednisolone, immunomodulatory agents, intravenous immunoglobulin, and intravenous methylprednisolone pulse therapy.[5] The skin rashes usually alleviated after the treatment.[4] In contrast, variable therapeutic responses for neurologic symptoms were observed, ranging from no improvement to complete remission.
We herein described a rare case of anti-TIF1-γ NMS, followed by esophageal cancer. Peripheral neuropathy might be a extramuscular manifestation of DMS. A continuous follow-up for internal malignancy is important in such patients.
Ethical approval
This study was approved by the Institutional Review Board of MacKay Memorial Hospital (22MMHIS038e). The patient consent was waived by the IRB.
Financial support and sponsorship
Nil.
Conflicts of interest
Dr. Yu-Hung Wu, an editorial board member at Dermatologica Sinica, had no role in the peer review process of or decision to publish this article. The other authors declared no conflicts of interest in writing this paper.
References
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