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| CASE REPORT |
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| Year : 2021 | Volume
: 5
| Issue : 1 | Page : 95-97 |
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Mixed connective tissue disorder in a patient with retroviral disease: A rare case report
Farhana Tahseen Taj, Monika Singh
Department of Dermatology, Venereology and Leprosy, Jawaharlal Nehru Medical College, K.L.E. Academy of Higher Education and Research, Belgaum, Karnataka, India
| Date of Submission | 26-Sep-2019 |
| Date of Decision | 18-Nov-2019 |
| Date of Acceptance | 23-Dec-2019 |
| Date of Web Publication | 19-Feb-2021 |
Correspondence Address:
Farhana Tahseen Taj
Department of Dermatology, KLE Hospital, Room No. 23, Belagavi - 590 010, Karnataka
India
 Source of Support: None, Conflict of Interest: None  | Check |
DOI: 10.4103/CDR.CDR_37_19
Connective tissue disorders are a group of disorder of unknown etiology. Mixed connective tissue disorder is a distinct syndrome with combination of features of Systemic lupus erythematosus, systemic sclerosis,dermatomyositis/polymyositis and rheumatoid arthritis. We report a case of mixed connective tissue disorder in a patient with acquired immune deficiency syndrome which is to the best of our knowledge is very rare presentation.
Keywords: Mixed connective tissue disease, people living with HIV/AIDS, uridine-rich U1 ribonucleoprotein
How to cite this article:
Taj FT, Singh M. Mixed connective tissue disorder in a patient with retroviral disease: A rare case report. Clin Dermatol Rev 2021;5:95-7 |
| Introduction | |  |
Mixed connective tissue disease (MCTD) is a specific condition in which two or more connective tissue disorders are associated with the presence of antibody against a specific uridine-rich U1 ribonucleoprotein (U1RNP).[1],[2] Clinical manifestations are usually those of systemic lupus erythematosus (SLE), scleroderma, and inflammatory myositis. First described by Sharp et al. in 1972,[1] this disease is now known to have characteristic cutaneous features. Overlap syndromes present a combination of at least two collagen vascular diseases without necessarily demonstrating antibody against U1 RNP. Previous studies have reported that 7%–23% of the total MCTD population have a juvenile-onset.[2]
| Case Report | | |
A 38-year-old people living with HIV/AIDS female on anti-retroviral therapy since 7 years presented with painful ulcer over the left thigh [Figure 1] and right leg [Figure 2] since 2 months. Two months back, she developed painful hard nodule over the left thigh and right leg which was pea-sized, insidious in onset and gradually progressive in size over a span of 20 days and spontaneously burst open to form an ulcer. It was associated with pus discharge. The patient also gives a history of painful lesions in the oral cavity. On further inquiry, the patient gives a history of photosensitivity since 7 years, Raynaud's phenomenon since 2 years, thinning of hair over scalp since 4 years, difficulty in flexion of fingers of both hands, joint pain in both wrists, elbows, and ankle joints. On examination, there was pallor, hyperpigmented plaques with scaling present over face, both upper limbs, and “V” area of chest. A solitary ulcer measuring 3 cm × 4 cm with slough at base was present over left lateral aspect of thigh, two ulcers measuring 2 cm × 2 cm was also noticed over the lateral aspect of the right leg. She also had generalized thickening of skin over hands, swelling of bilateral index and middle finger [Figure 3] and multiple pitted scars over third and fourth digit of the right hand. The oral cavity shows erosions over buccal and palatal mucosa. Diffuse thinning of hair over scalp. Investigations showed that Hb 7.2 gm%, urine routine and microscopy, liver function test, and total and differential counts were normal. Peripheral smear showed dimorphic anemia. Renal function test was deranged (urea - 63 mg/dL and creatinine - 2.8 mg/dL), 24 h urine protein was within normal limits. Ultrasound kidney ureter and bladder radiography revealed Grade 1 parenchymal changes. Antinuclear antibodies (ANA) profile was positive for n-RNP, SS-A, RO-52, SCL-70, CENP-B, rib, P-PROT antibodies. Biopsy was done from left thigh ulcer revealed nonspecific vasculitis. Sputum for acid-fast bacilli was negative. Hence, this patient has features of cutaneous lupus erythematosus and scleroderma with HIV. The patient was treated with calcium channel blocker 10 mg once a day and hydroxychloroquine 200 mg once a day for 1 month. After 1 month of follow-up, there was complete resolution of lesions and with normal renal function test.
| Discussion | | |
MCTD was first described by Sharp et al.[1] as an overlap syndrome with manifestations of SLE, polymyositis, dermatomyositis, rheumatoid arthritis, and scleroderma. MCTD is generally associated with the presence of high titers of autoantibodies to U1 RNP. MCTD is more commonly seen in females, with female to male ratio of 16:1. The mean age of onset in adults is 35 years, and in children, it is 10 years. The most common early changes in MCTD are myalgia, arthralgia, and Raynaud's phenomenon. Raynaud's phenomenon is seen in 75%–100% of patients and its absence argues against the diagnosis of MCTD.
Over time, sclerodactyly, soft-tissue calcinosis, and cutaneous telangiectasia may appear. Skin rash suggestive of Systemic lupus erythematosus (malar rash or photosensitivity), Dermatomyositis (heliotrope rash on eyelids or erythematous rash on knuckles) may occur.[3] Arthralgia is common and few patients may develop erosive polyarthritis. Pulmonary fibrosis and isolated or secondary pulmonary arterial hypertension may also develop. Other features include esophageal dysmotility, pericarditis, Sjogren's syndrome, and renal dysfunction.
There are four diagnostic criteria reported for MCTD. Sharp and Anderson, Alarcón-Segovia, Kasukawa, and Kahn diagnostic criteria for MCTD.[4],[5],[6] The criteria of Alarcon-Segovia has sensitivity and specificity of 63% and 86%, respectively.
Our patient had a history of Raynaud's phenomenon, photosensitivity, leg ulcers, and swollen fingers with positive U1 RNP. Her ANA profile was positive for SS A, SCL 70, and ribosomal P Protein. Based on clinical symptoms, diagnosis of MCTD was made and treatment was started with calcium channel blockers and antimalarials. Systemic steroids were not given because of her underlying immunodeficiency status. The patient showed a positive response with the treatment.
We report this case for its rare association with HIV and better treatment response with calcium channel blockers and antimalarials without systemic steroids. MCTD has a better prognosis because of less prevalence of sever renal involvement and neurological symptoms.[7]
HIV causes immune dysregulation which initiates the pathogenic process and leads to the development of systemic and autoimmune diseases.[8] The frequency of autoimmune disease before the introduction of highly active antiretroviral therapy (HAART) varies between 1% and 60%. Since the introduction of HAART HIV-infected patients presents a rise in the CD4 lymphocyte count which enables autoantibody to emerge. MCTD has characteristic autoimmune anti-RNP antibodies specific for the U1 snRNP splicing complex. Anti-RNP antibodies cross-react with the HIV-1 surface, owing to multiple homologies between the gp 120/41 envelope complex and the 70K protein of U1 snRNP.[9] MCTD, which involves both B- and T-cell reactivity to self-epitopes homologous to HIV-1, may elucidate new strategies for generating protective immunity to this virus. HAART therapy in HIV patients allows immune restoration and autoimmune antibody formation.[8] Immunosuppressants in this context are often well-tolerated, not associated with any opportunistic infections.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
| References | | |
| 1. | Sharp GC, Irvin WS, Tan EM, Gould RG, Holman HR. Mixed connective tissue disease – An apparently distinct rheumatic disease syndrome associated with a specific antibody to an extractable nuclear antigen (ENA). Am J Med 1972;52:148-59.  |
| 2. | Gunnarsson R, Molberg O, Gilboe IM, Gran JT; PAHNOR1 Study Group. The prevalence and incidence of mixed connective tissue disease: A national multicentre survey of Norwegian patients. Ann Rheum Dis 2011;70:1047-51. |
| 3. | Hoffman RW, Greidinger EL. Mixed connective tissue disease. Curr Opin Rheumatol 2000;12:386-90. |
| 4. | Sharp GC, Anderson PC. Current concepts in the classification of connective tissue diseases. Overlap syndromes and mixed connective tissue disease (MCTD). J Am Acad Dermatol 1980;2:269-79. |
| 5. | Alarcón-Segovia D. Mixed connective tissue disease and overlap syndromes. Clin Dermatol 1994;12:309-16. |
| 6. | Kasukawa R. Mixed connective tissue disease. Intern Med 1999;38:386-93. |
| 7. | Burdt MA, Hoffman RW, Deutscher SL, Wang GS, Johnson JC, Sharp GC. Long-term outcome in mixed connective tissue disease: Longitudinal clinical and serologic findings. Arthritis Rheum 1999;42:899-909. |
| 8. | Virot E, Duclos A, Adelaide L, Miailhes P, Hot A, Ferry T, et al. Autoimmune diseases and HIV infection: A cross-sectional study. Medicine (Baltimore) 2017;96:e5769. |
| 9. | Douvas A, Takehana Y, Ehresmann G, Chernyovskiy T, Daar ES. Neutralization of HIV type 1 infectivity by serum antibodies from a subset of autoimmune patients with mixed connective tissue disease. AIDS Res Hum Retroviruses 1996;12:1509-17. |
[Figure 1], [Figure 2], [Figure 3]
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