|Year : 2022 | Volume
| Issue : 3 | Page : 136-139
Scleroderma – Lupus Erythematosus Overlap or Lupoderma: Reporting an Uncommon Association
Durga Madhab Tripathy1, Preema Sinha2, Arun Hegde3, Shekhar Neema4
1 Assistant Professor, Dermatology, Military Hospital, Agra, India
2 Senior Advisor, Dermatology, Base Hospital, Lucknow, India
3 Senior Advisor, Medicine and Rheumatology, Command Hospital, Lucknow, India
4 Associate Professor, Dermatology, AFMC, Pune, India
|Date of Submission||03-Oct-2020|
|Date of Acceptance||12-Dec-2020|
|Date of Web Publication||01-Apr-2022|
Dr. Maj Durga Madhab Tripathy
Department of Dermatology, Armed Forces Medical College, Pune - 404 110, Maharashtra
Source of Support: None, Conflict of Interest: None
Overlap syndromes are distinct entities with manifestations of rheumatic diseases in a patient that are not restricted to a particular disease. Rheumatoid arthritis, systemic lupus erythematosus (SLE), scleroderma, Sjogren's syndrome, and idiopathic inflammatory myositis (IIM) are definite connective tissue diseases that can have symptoms with significant overlap. If the clinical, biochemical, and serological parameters do not fulfill the criteria of any of the four diseases, it is termed as undifferentiated connective tissue disease. On the contrary, mixed connective tissue disease is a distinct clinical entity with specific parameters and positive U1RNP titers. Although scleroderma and SLE have their overlap profiles with other inflammatory rheumatic conditions, overlap with IIMs has been the commonest co-association in both the conditions. SLE-scleroderma overlap has been infrequently reported in the literature and can be considered as the rarest overlap as far as prevalence is concerned. We report a case of SLE-scleroderma overlap in a 21-year-old female along with discussing various aspects of the manifestations and complications of the overlap along with the challenges faced by the clinician in managing this relatively rare entity.
Keywords: Lupoderma, overlap syndromes, systemic lupus erythematosus scleroderma overlap
|How to cite this article:|
Tripathy DM, Sinha P, Hegde A, Neema S. Scleroderma – Lupus Erythematosus Overlap or Lupoderma: Reporting an Uncommon Association. J Mar Med Soc 2022;24, Suppl S1:136-9
| Introduction|| |
Autoimmune inflammatory rheumatic diseases encompass rheumatoid arthritis (RA), systemic lupus erythematosus (SLE), scleroderma, Sjogren's syndrome (SS), and idiopathic inflammatory myositis (IIM) as definite connective tissue diseases (DCTDs). Clinical manifestations fulfilling diagnostic criteria of more than one individual disease in a patient are regarded as overlap syndrome among which mixed connective tissue disease is a fully evolved overlap entity and by many studies is delineated as a specific entity in itself because of a positive U1RNP. On the corollary, the manifestation unable to fulfill diagnostic criteria of any of the above-mentioned diseases is classified as a novel spectrum called undifferentiated connective tissue disease which invariably in the next 3 years progresses to one of the DCTDs. Other than overlap syndrome, certain autoimmune connective tissue diseases (CTDs) are associated with organ-specific autoimmune diseases, most prominently scleroderma with primary biliary cirrhosis and SLE with antiphospholipid syndrome and multiple sclerosis., Other associations with autoimmune thyroiditis, vasculitides, Behcet's syndrome, and sarcoidosis have also been mentioned in literature.
The progression of the disease and complication profile of individual DCTD is quite different from overlap syndromes; hence, their management can be both challenging and specific.
| Case Report|| |
A 21-year-old female presented with complaints of recurrent episodes of moderate-grade fever along with a scaly mildly itchy relapsing and remitting rash of 3 years' duration and gradually progressive tightness of skin progressing from the hands and feet proximally to involve the mid-arm and thighs of 2 years' duration. There was a history suggestive of raynaud phenomenon with one episode severe enough to cause gangrene and auto-amputation of the distal phalanx of the right index finger. She gave a history of recurrent mildly painful oral ulcers for the past 1 year. There was a history of gradually progressive dyspnea on exertion for 1 year without any history suggestive of any other cardiorespiratory complications. There was no history of photosensitivity, joint pains, and recurrent abortions or any history suggestive of sicca symptoms, proximal muscle weakness, or any other systemic involvement.
On examination, she had pallor. Systemic examination revealed a reduction in chest expansion to 3 cm bilaterally.
Dermatological examination revealed multiple discrete to coalescing hyperpigmented plaques with central atrophy and hypo- to depigmentation distributed predominantly over the photo-exposed areas of the scalp, trunk, and upper extremities with adherent scales [Figure 1]. Scalp showed the presence of lupus hair [Figure 2]. “Carpet tack sign “ could be elicited over the plaques on the removal of the adherent scales demonstrating follicular plugging. On the face, there was a diffuse tightening of the skin along with the beaked appearance of the nose [Figure 3]. Ingram's sign was positive. Examination of the oral cavity revealed multiple painless shallow ulcers over the hard palate and there was sclerosis of the frenulum. Examination of the rest of the body revealed diffuse hidebound skin extending proximally from the fingers and toes up to mid-arm and knees bilaterally. A few pitted scars over both hands along with auto-amputation of the distal phalanx of the right index finger were noted [Figure 4]. Diffuse salt and pepper type of pigmentation was noted over the face, upper back, forearms, and shin region [Figure 5]. A modified Rodnan's skin score was done which revealed a score of 24 out of 51. Dermoscopy of the plaques revealed follicular plugging and depigmentation [Figure 6] and of the nail revealed dilated capillary loops with intermittent areas of capillary dropouts.
|Figure 1: Hyperpigmented scaly plaques with central atrophy and hypo- to depigmentation seen over the face and ears|
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|Figure 3: Diffuse tightening of the skin along with the beaked appearance of the nose was noted on the face|
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|Figure 4: A few pitted scars over both hands along with auto-amputation of the distal phalanx of the right index finger|
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|Figure 5: Diffuse salt and pepper type of pigmentation was noted over the forearms|
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|Figure 6: (3Gen Dermlite DL4 Polarized Dermoscope) dermoscopy of the plaque over the face revealed follicular plugging (blue circles) and depigmentation|
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The patient was investigated extensively. Apart from normocytic normochromic anemia, all her hematological and biochemical parameters were normal. Antinuclear antibodies by indirect immunofluorescence revealed a homogeneous pattern with a titer of 1:256 and an extractable nuclear antigens profile revealed positivity for Ro-Sjogren Syndrome related antibody-A (Ro/SS-A) antibody. All other investigations to rule out any infective or neoplastic etiology were normal. High-resolution computed tomography of the chest revealed early interstitial lung disease with no evidence of pulmonary arterial hypertension (PAH).
She was diagnosed as a case of lupoderma or SLE-scleroderma overlap as she was fulfilling the EULAR-ACR 2018 criteria for the diagnosis of SLE and also fulfilling the classification criteria of scleroderma to be a case of diffuse cutaneous systemic sclerosis. She was started on hydroxychloroquine and methotrexate along with topical sunscreen and steroids for the cutaneous lesions. Calcium channel blockers were administered for Raynaud phenomenon. She showed a gradual improvement in symptoms and is under regular follow-up for any progression of the disease or complications.
| Discussion|| |
The prevalence of overlap in a case of scleroderma is highest with IIMs ranging from 15% to 47% followed by SS (10%–42%), RA (3%–15%), and with SLE being the most uncommon of 1%–8%. The prevalence of SLE overlap is 17%–38% with maximum with IIMs (4%–16%) and with RA (0.01%–2%) called “Rhupus.” Taking the above into account, an overlap of scleroderma and SLE can be regarded as the rarest form of CTD overlaps reported in the literature restricted to few case reports and case series.,
Loss of tolerance to self-antigens and diversion of the immune system to an autoimmune self-destructive overdrive is key to the pathogenesis of CTDs. An initial assault through antigen-specific B- and T-cell inflammatory response is responsible for clinical manifestations. Gradually as the disease progresses, inter- and intramolecular epitope spreading and isotype switching are responsible for end-organ complications and have been hypothesized to be responsible for the emergence of overlap syndromes. Apoptotic caspase cleavage of nuclear autoantigens is the hallmark of SLE which transforms into metal-catalyzed oxidative damage in patients progressing from SLE to overlap with scleroderma.,
The clinical manifestations of lupoderma have very subtle differences as compared to individual CTDs. In 70% of the cases, the manifestations of SLE were preceded by an average of 1.5 years before scleroderma. The onset of disease is early in cases of overlap (37.2 years) as compared to scleroderma (49.7 years). The course is generally progressive and fatal outcomes resulting from polyserositis, pancreatitis, Intestitial lung disease (ILD), and PAH and leukoencephalopathy were not uncommon. Renal involvement is common in both SLE (70%) and scleroderma (25%), but the prevalence of renal complications was surprisingly low (10%) in cases of overlap of the two entities. Fever, Raynaud phenomenon, and a photosensitive rash were the most common clinical features. The autoantibody profile is similar to individual CTDs in overlap which is anti-ds DNA and anti-Sm for SLE and anti-Scl-70 for scleroderma. Our patient had a very early onset of the disease, with ILD being the only systemic involvement so far which is in tandem with classic manifestations of SLE scleroderma overlap described in literature.,
There are two challenges clinicians have to tackle in SLE-Scleroderma overlap. Firstly, it is imperative to differentiate scleroderma renal crisis from lupus nephritis as the treatment remains starkly different and secondly, TNF-alpha inhibitors have to be used judiciously in both the conditions as they have a predisposition for pulmonary fibrosis. High-dose pulsed steroids are the treatment of choice for lupus nephritis, especially when it is part of a lupus flare which can at times precipitate scleroderma renal crisis. The advent of biologics such as rituximab and tocilizumab has been prudent in dealing with such challenges and have become the therapy of choice.,,
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 understands that name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5], [Figure 6]