|Year : 2020 | Volume
| Issue : 2 | Page : 117-118
Palmar and lateral digital papules as a distinct feature of fatal anti-melanoma differentiation-associated gene 5 dermatomyositis
Tzong-Yun Ger1, Fang-Ying Wang1, Shih-Jyun Yang1, Hsi Yen1, Chun-Bing Chen2
1 Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Taipei, Linkou, and Keelung; College of Medicine, Chang Gung University, Taoyuan, Taiwan
2 Department of Dermatology, Drug Hypersensitivity Clinical and Research Center, Chang Gung Memorial Hospital, Taipei, Linkou, and Keelung; College of Medicine, Chang Gung University, Taoyuan; Immune-Oncology Center of Excellence, Chang Gung Memorial Hospital, Linkou; Cancer Vaccine and Immune Cell Therapy Core Laboratory, Chang Gung Memorial Hospital, Linkou; 5Graduate Institute of Clinical Medical Sciences, College of Medicine, Chang Gung University, Taoyuan, Taiwan; 6Department of Dermatology, Xiamen Chang Gung Hospital, Xiamen, China
|Date of Submission||19-Mar-2019|
|Date of Decision||30-Sep-2019|
|Date of Acceptance||03-Oct-2019|
|Date of Web Publication||29-May-2020|
Department of Dermatology, Chang Gung Memorial Hospital, Linkou Branch, No. 5, Fusing St., Taoyuan
Source of Support: None, Conflict of Interest: None
|How to cite this article:|
Ger TY, Wang FY, Yang SJ, Yen H, Chen CB. Palmar and lateral digital papules as a distinct feature of fatal anti-melanoma differentiation-associated gene 5 dermatomyositis. Dermatol Sin 2020;38:117-8
|How to cite this URL:|
Ger TY, Wang FY, Yang SJ, Yen H, Chen CB. Palmar and lateral digital papules as a distinct feature of fatal anti-melanoma differentiation-associated gene 5 dermatomyositis. Dermatol Sin [serial online] 2020 [cited 2020 Jul 4];38:117-8. Available from: http://www.dermsinica.org/text.asp?2020/38/2/117/285354
Anti-melanoma differentiation-associated gene 5 (anti-MDA5) dermatomyositis (DM) is a clinically distinct entity with specific cutaneous findings, systemic involvement, and prognosis that differs from typical cutaneous DM., In addition to characteristics typical of cutaneous DM, anti-MDA5 DM presents with unique features of cutaneous ulceration, palmar papules, and lateral digit hyperkeratosis.,, Anti-MDA5 DM also has high risk of progression to interstitial lung disease (ILD) or rapidly progressive interstitial lung disease (RP-ILD) and is frequently resistant to immunosuppressive therapies.,, We describe a fatal case of anti-MDA5 DM which initially presented with respiratory failure and painful erythematous papules on the lateral sides of fingers.
A 79-year-old female with hypertension under regular medication control presented with fever and dyspnea for 3 days. She reported generalized malaise, and body weight loss of 15 kg over 3 months. The patient also had painful skin rash over fingers and oral ulcers. Physical examination revealed multiple erythematous to purpuric firm nodules on the lateral sides of bilateral finger knuckles and erythematous macules on bilateral palms [Figure 1]a and [Figure 1]b. Initial laboratory data were remarkable for leukocytosis (11,200/μL) and elevated C-reactive protein (112.1 mg/L). Multifocal opacities in bilateral lungs were noted on chest radiography, and chest computed tomography (CT) showed multiple ground-glass opacities, bilateral lower lobe consolidation, and pneumomediastinum [Figure 2]. Under the impression of respiratory failure secondary to ILD complicated with pneumonia, the patient was intubated and admitted to the intensive care unit. Creatine phosphokinase, C3, C4, antinuclear antibodies, anti-double-stranded DNA, antineutrophil cytoplasmic antibody, anti-cardiolipin antibody, and anti-phospholipid antibody levels were within normal limits. Skin biopsy of the left index finger lesion demonstrated mild perivascular lymphocytic infiltrate, some extravasated erythrocytes, abundant dermal mucin deposition, and amorphous necrosis in dermal collagen fibers [Figure 1]c, [Figure 1]d, [Figure 1]e, [Figure 1]f. Further laboratory examination revealed high levels of anti-MDA5 antibody, confirming the diagnosis of anti-MDA5 DM.
|Figure 1: Skin photograph showing multiple erythematous firm papules and nodules over the palmar and lateral sides of fingers (a); purpuric papulonodules on ventral side of finger and multiple erythematous small macules with telangiectasia on bilateral palms (b). Histopathology of the skin biopsies, visualized by hematoxylin and eosin staining (c-e) and colloidal iron stain (f). Mild acanthosis, mild perivascular lymphocytic infiltrate, and some extravasated erythrocytes (×200) (c); amorphous necrosis in dermal collagen fibers (×100, ×200; d and e, respectively); abundant dermal mucin deposition (×40, f)|
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|Figure 2: Chest radiography showed multifocal patchy opacities in both lungs (a). Chest computed tomography revealed diffuse ground glass opacities in bilateral lungs and consolidation within air-bronchogram at right lower lobe, which were consistent with interstitial lung disease (b and c)|
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After the diagnosis of anti-MDA5 DM was established, systemic corticosteroid was escalated to high-dose therapy (prednisolone equivalent dose of 2.5 mg/kg daily). However, patient's condition continued to deteriorate rapidly with tachypnea and desaturation. Rituximab was not used due to patient's ongoing lung infection. Intravenous immunoglobulin (IVIG) was suggested, but patient's family refused and requested palliative care. The patient passed away 1 week later due to respiratory failure and multiple organ dysfunction.
Anti-MDA5 DM is a variant of DM with a distinctive cutaneous appearance and clinical manifestations different from classical DM. Our patient did not present with typical features of cutaneous DM, including heliotrope rash, facial erythema, and Gottron's sign. The only notable findings for this patient were painful erythematous papules on lateral sides of the fingers, which occur in 20%–60% of anti-MDA5 DM cases., Unlike Gottron's papules, which are located on dorsal part of fingers, palmar papules are often located on the palmar surface or lateral sides of fingers, especially over metacarpophalangeal and interphalangeal joints. Histopathology of these skin lesions often demonstrates minimal or absent interface dermatitis, increase in dermal mucin, and small-to-medium vessel vasculopathy. The pathology of our patient revealed amorphous necrosis in the dermal collagen fibers, which could be related to severe underlying thrombotic vasculopathy in deeper dermis.
ILD and RP-ILD are the most common systemic involvements contributing to mortality. The exact pathogenesis between anti-MDA5 antibody and ILD remains to be elucidated. It has been hypothesized that vasculopathy of pulmonary vasculature, endothelial injury, and increasing profibrotic cytokines may contribute to ILD.,, Other systemic findings seen in anti-MDA5 DM patients can include fever, arthritis, and hand swelling.
Compared to other forms of DM patients, anti-MDA5 DM patients have poor prognosis and are often resistant to immunosuppressive therapy. High-dose or pulse corticosteroid therapy remains the initial treatment of choice. Combination with a second immunosuppressive agent such as cyclosporine, cyclophosphamide, azathioprine, or mycophenolate mofetil (MMF) should be considered in refractory cases. One guideline from Japan suggested triple-combination treatment with corticosteroid, cyclosporine, and intravenous-pulse cyclophosphamide as the first-line therapy. Another study recommended the use of MMF as a first-line corticosteroid-sparing agent. In addition, rituximab or IVIG has also been suggested for patients who fail conventional therapy.,
In conclusion, anti-MDA5 DM is a rare variant of DM that is associated with high risk of ILD and poor prognosis. Atypical clinical presentation makes the diagnosis of anti-MDA5 DM challenging and can often delay treatment. Early recognition and aggressive treatment should be initiated for this potentially fatal disease.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient has given her consent for her images and other clinical information to be reported in the journal. The patient understand that name and initials will not be published and due efforts will be made to conceal her identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
This study was supported by research grants from Ministry of Science and Technology, Taiwan (MOST 108-2314-B-182A-006-MY3 to CB Chen) and Chang Gung Memorial Hospital, Taiwan (CMRPG2H0081, CMRPG2J0221, CIROG2I0011 to CB Chen).
Conflicts of interest
There are no conflicts of interest.
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