Online first
Case report
Published online: 2024-05-27
Rapidly progressive course of systemic sclerosis sine scleroderma: a case report and short literature review
Abstract
Systemic sclerosis (SSc) is an autoimmune disease that affects the connective tissue. It is progressive and characterized by a diverse course, resulting in a heterogeneous clinical picture. One form of SSc is systemic sclerosis sine scleroderma which affects only 10% of patients. Common manifestations such as skin involvement, Raynaud's phenomenon or telangiectasia are not always the first signs of the disease, which is particularly important for the proper establishment of a diagnosis and initiation of treatment. The success of therapy depends on the stage of the disease, but even with appropriate ongoing treatment, it may not yield the desired effects. A rare case of systemic sclerosis with delayed cutaneous manifestation was reported. The disease appeared as acute renal insufficiency. Skin involvement was clinically overt and detectable after development of kidney failure. Earlier the patient had enhanced titer of anti-topoisomerase I (Scl-70) antibodies and unspecific alterations visible at capillaroscopy only. The patient required treatment with dialysis, intravenous cyclophosphamide was initiated, followed by oral administration, with good tolerance and achieving reduction of symptoms. Nevertheless, the disease was very severe, rapidly progressive, and fatal.
Keywords: systemic sclerosis with delayed skin manifestationsscleroderma renal crisissevere course of systemic sclerosis
References
- Denton CP, Khanna D. Systemic sclerosis. Lancet. 2017; 390(10103): 1685–1699.
- Volkmann ER, Andréasson K, Smith V. Systemic sclerosis. Lancet. 2023; 401(10373): 304–318.
- Akbarzadeh R, Müller A, Humrich JY, et al. When natural antibodies become pathogenic: autoantibodies targeted against G protein-coupled receptors in the pathogenesis of systemic sclerosis. Front Immunol. 2023; 14: 1213804.
- Kucharz EJ, Kopeć-Mędrek M. Systemic sclerosis sine scleroderma. Adv Clin Exp Med. 2017; 26(5): 875–880.
- Bellando-Randone S, Del Galdo F, Lepri G, et al. Very Early Diagnosis of Systemic Sclerosis collaborators. Progression of patients with Raynaud's phenomenon to systemic sclerosis: a five-year analysis of the European Scleroderma Trial and Research group multicentre, longitudinal registry study for Very Early Diagnosis of Systemic Sclerosis (VEDOSS). Lancet Rheumatol. 2021; 3(12): e834–e843.
- Bellando-Randone S, Del Galdo F, Matucci-Cerinic M. Insights into molecular and clinical characteristics of very early systemic sclerosis. Curr Opin Rheumatol. 2022; 34(6): 351–356.
- Diab S, Dostrovsky N, Hudson M, et al. Canadian Scleroderma Research Group. Systemic sclerosis sine scleroderma: a multicenter study of 1417 subjects. J Rheumatol. 2014; 41(11): 2179–2185.
- Lescoat A, Huang S, Carreira PE, et al. EUSTAR collaborators. Cutaneous Manifestations, Clinical Characteristics, and Prognosis of Patients With Systemic Sclerosis Sine Scleroderma: Data From the International EUSTAR Database. JAMA Dermatol. 2023; 159(8): 837–847.
- Toya SP, Tzelepis GE. The many faces of scleroderma sine scleroderma: a literature review focusing on cardiopulmonary complications. Rheumatol Int. 2009; 29(8): 861–868.
- Preliminary criteria for the classification of systemic sclerosis (scleroderma). Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee. Arthritis Rheum. 1980; 23(5): 581–590.
- LeRoy EC, Medsger TA. Criteria for the classification of early systemic sclerosis. J Rheumatol. 2001; 28(7): 1573–1576.
- Araújo FC, Camargo CZ, Kayser C. Validation of the ACR/EULAR classification criteria for systemic sclerosis in patients with early scleroderma. Rheumatol Int. 2017; 37(11): 1825–1833.
- Araújo FC, Camargo CZ, Kayser C. Validation of the ACR/EULAR classification criteria for systemic sclerosis in patients with early scleroderma. Rheumatol Int. 2017; 37(11): 1825–1833.
- Liem SIE, Ciaffi J, van Leeuwen NM, et al. Step forward in early recognition of systemic sclerosis: data from the Leiden CCISS cohort. RMD Open. 2023; 9(2).
- Koenig M, Joyal F, Fritzler MJ, et al. Autoantibodies and microvascular damage are independent predictive factors for the progression of Raynaud's phenomenon to systemic sclerosis: a twenty-year prospective study of 586 patients, with validation of proposed criteria for early systemic sclerosis. Arthritis Rheum. 2008; 58(12): 3902–3912.
- Bellando Randone S, Matucci Cerinic M. Early Scleroderma. Rematizam. 2015; 1: 62–65.
- Avouac J, Fransen J, Walker UA, et al. EUSTAR Group. Preliminary criteria for the very early diagnosis of systemic sclerosis: results of a Delphi Consensus Study from EULAR Scleroderma Trials and Research Group. Ann Rheum Dis. 2011; 70(3): 476–481.
- Moinzadeh P, Nihtyanova SI, Howell K, et al. Impact of hallmark autoantibody reactivity on early diagnosis in scleroderma. Clin Rev Allergy Immunol. 2012; 43(3): 249–255.
- van den Hoogen F, Khanna D, Fransen J, et al. 2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative. Arthritis Rheum. 2013; 65(11): 2737–2747.
- Sharabi I, Tanay A, Zandman-Goddard G. Digital Ulcers, Systemic Sclerosis Sine Scleroderma and Paraneoplastic Phenomena Responding to Bosentan Therapy. Isr Med Assoc J. 2015; 17(2): 126–127.
- Lazzaroni MG, Cavazzana I, Colombo E, et al. EUSTAR co-authors. Malignancies in Patients with Anti-RNA Polymerase III Antibodies and Systemic Sclerosis: Analysis of the EULAR Scleroderma Trials and Research Cohort and Possible Recommendations for Screening. J Rheumatol. 2017; 44(5): 639–647.
- Bellando-Randone S, Matucci-Cerinic M. Very early systemic sclerosis. Best Pract Res Clin Rheumatol. 2019; 33(4): 101428.
- Losada I, González‐Moreno J, Roda N, et al. Polyserositis: a diagnostic challenge. Intern Med J. 2018; 48(8): 982–987.
- Hunzelmann N, Genth E, Krieg T, et al. Registry of the German Network for Systemic Scleroderma. The registry of the German Network for Systemic Scleroderma: frequency of disease subsets and patterns of organ involvement. Rheumatology (Oxford). 2008; 47(8): 1185–1192.
- Kucharz EJ. Twardzina układowa. In: Kotyla P. ed. Stany nagłe w reumatologii. Tom 2. Via Medica, Gdansk 2021: 227–240.
- Hachulla E, Agard C, Allanore Y, et al. Collaborators. French recommendations for the management of systemic sclerosis. Orphanet J Rare Dis. 2021; 16(Suppl 2): 322.
- Steen VD, Costantino JP, Shapiro AP, et al. Outcome of renal crisis in systemic sclerosis: relation to availability of angiotensin converting enzyme (ACE) inhibitors. Ann Intern Med. 1990; 113(5): 352–357.
- Steen V. Scleroderma renal crisis. Rheum Dis Clin N Am. 2003; 29(2): 315–333.
- Valentini G, Marcoccia A, Cuomo G, et al. The concept of early systemic sclerosis following 2013 ACR\EULAR criteria for the classification of systemic sclerosis. Curr Rheumatol Rev. 2014; 10(1): 38–44.
- Trapiella-Martínez L, Díaz-López JB, Caminal-Montero L, et al. RESCLE Investigators, on Behalf of the Autoimmune Diseases Study Group (GEAS), Spanish Society of Internal Medicine (SEMI). Very early and early systemic sclerosis in the Spanish scleroderma Registry (RESCLE) cohort. Autoimmun Rev. 2017; 16(8): 796–802.
- Nishimagi E, Kawaguchi Y, Tanaka E, et al. Classification of systemic sclerosis in the Japanese population based on rapid progression of skin thickening. Mod Rheumatol. 2004; 14(3): 216–221.
- Singh JA, Cleveland JD. Serious infections in people with systemic sclerosis: a national US study. Arthritis Res Ther. 2020; 22(1): 163.
- Cole A, Ong VH, Denton CP. Renal Disease and Systemic Sclerosis: an Update on Scleroderma Renal Crisis. Clin Rev Allergy Immunol. 2023; 64(3): 378–391.
- Pope JE, Denton CP, Johnson SR, et al. State-of-the-art evidence in the treatment of systemic sclerosis. Nat Rev Rheumatol. 2023; 19(4): 212–226.
