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Systemic Sclerosis Sine Scleroderma Manifested with Gastrointestinal Bleeding, Antiphospholipid Syndrome and Positive Anti-RNA Polymerase III Antibody: Case Report and Literature Review.

ABSTRACT: Systemic sclerosis sine scleroderma (ssSSc) is a rare disease in which patients present with internal organ manifestations of systemic sclerosis in the absence of cutaneous findings. They tend to have serological markers characteristic of systemic sclerosis (SSc), including positive antinuclear antibodies (ANA) and anticentromere antibodies (ACA). The disease has been rarely reported in the literature, and the diagnosis can be easily missed due to a lack of relevant skin findings. Here we report a patient who presented with chronic gastrointestinal bleeding with angioectasia, antiphospholipid syndrome (APS), positive ANA, positive ACA, and positive anti-RNA polymerase III antibody. The constellation of all these findings has, to our knowledge, never been described in the literature. The purpose of presenting this case is to raise the clinician's awareness of the occurrence of this disease when similar internal organs manifestations of scleroderma are encountered, and to monitor for the development of other internal manifestations and intervene promptly and accordingly.

SUBMITTER: Alghamdi M

PROVIDER: S-EPMC7414972 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Systemic Sclerosis Sine Scleroderma Manifested with Gastrointestinal Bleeding, Antiphospholipid Syndrome and Positive Anti-RNA Polymerase III Antibody: Case Report and Literature Review.

Alghamdi Mansour M Derbes Stephen J SJ

International medical case reports journal 20200804

Systemic sclerosis sine scleroderma (ssSSc) is a rare disease in which patients present with internal organ manifestations of systemic sclerosis in the absence of cutaneous findings. They tend to have serological markers characteristic of systemic sclerosis (SSc), including positive antinuclear antibodies (ANA) and anticentromere antibodies (ACA). The disease has been rarely reported in the literature, and the diagnosis can be easily missed due to a lack of relevant skin findings. Here we report ...[more]

PMID: 32801944

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Project description:ImportanceSystemic sclerosis (SSc) sine scleroderma (ssSSc) is a subset of SSc defined by the absence of skin fibrosis. Little is known about the natural history and skin manifestations among patients with ssSSc.ObjectiveTo characterize the clinical phenotype of patients with ssSSc compared with patients with limited cutaneous SSc (lcSSc) and diffuse cutaneous SSc (dcSSc) within the EUSTAR database.Design, setting, and participantsThis longitudinal observational cohort study based on the international EUSTAR database included all patients fulfilling the classification criteria for SSc assessed by the modified Rodnan Skin score (mRSS) at inclusion and with at least 1 follow-up visit; ssSSc was defined by the absence of skin fibrosis (mRSS = 0 and no sclerodactyly) at all available visits. Data extraction was performed in November 2020, and data analysis was performed from April 2021 to April 2023.Main outcomes and measuresMain outcomes were survival and skin manifestations (onset of skin fibrosis, digital ulcers, telangiectasias, puffy fingers).ResultsAmong the 4263 patients fulfilling the inclusion criteria, 376 (8.8%) were classified as having ssSSc (mean [SD] age, 55.3 [13.9] years; 345 [91.8%] were female). At last available visit, in comparison with 708 patients with lcSSc and 708 patients with dcSSc with the same disease duration, patients with ssSSc had a lower prevalence of previous or current digital ulcers (28.2% vs 53.1% in lcSSc; P < .001; and 68.3% in dcSSc; P < .001) and puffy fingers (63.8% vs 82.4% in lcSSc; P < .001; and 87.6% in dcSSc; P < .001). By contrast, the prevalence of interstitial lung disease was similar in ssSSc and lcSSc (49.8% and 57.1%; P = .03) but significantly higher in dcSSc (75.0%; P < .001). Skin telangiectasias were associated with diastolic dysfunction in patients with ssSSc (odds ratio, 4.778; 95% CI, 2.060-11.081; P < .001). The only independent factor for the onset of skin fibrosis in ssSSc was the positivity for anti-Scl-70 antibodies (odds ratio, 3.078; 95% CI, 1.227-7.725; P = .02). Survival rate was higher in patients with ssSSc (92.4%) compared with lcSSc (69.4%; P = .06) and dcSSc (55.5%; P < .001) after up to 15 years of follow-up.Conclusions and relevanceSystemic sclerosis sine scleroderma should not be neglected considering the high prevalence of interstitial lung disease (>40%) and SSc renal crisis (almost 3%). Patients with ssSSc had a higher survival than other subsets. Dermatologists should be aware that cutaneous findings in this subgroup may be associated with internal organ dysfunction. In particular, skin telangiectasias in ssSSc were associated with diastolic heart dysfunction.

Project description:Introduction/objectivesScleroderma is a rare complication in taxanes therapy. Although individual cases of taxanes-induced scleroderma have been reported, the clinical manifestation and treatment outcomes were reviewed and summarized rarely. This study reported a patient who developed diffuse scleroderma and possible scleroderma renal crisis after paclitaxel therapy for ureter cancer.MethodA PubMed literature review on published cases of taxanes-induced scleroderma up until April 2022 was included for analysis.ResultsThe search identified 27 patients with adequate information for analysis. Of the 28 patients, including the one presented here, 22 were female. Peripheral edema was the most common symptom in all but one patient, and often accompanied by erythema in 11. Symptoms usually occurred in half of the patients within the 4th course of treatment. Skin lesions gradually progressed to skin fibrosis, and extended proximally. Internal organ involvements were uncommon. Antinuclear antibody tests were positive occasionally, but anti-Scl70 and anti-centromere usually were negative. Taxanes therapy was discontinued, continued and unavailable in 21, 3, and 4 patients, respectively. Corticosteroids for skin lesions with or without immunosuppressive drugs were given to 15 patients. Of 25 patients with available skin outcomes, 19 improved. There was no significant skin improvement between those who did or did not receive skin treatment (62.5% vs. 75.0%, p = 0.37). Skin usually improved after discontinuing taxanes.ConclusionTaxanes-induced scleroderma is different from idiopathic scleroderma. Physicians should be aware of this condition in order to provide early diagnosis and apply appropriate management in order to avoid serious complications from severe skin sclerosis. Key Points • Scleroderma is a rare but unique and serious complication of taxanes therapy • Skin manifestations and distribution are similar to idiopathic scleroderma, but vascular phenomenon, internal organ involvement and scleroderma-associated auto-antibodies are presented rarely. Skin improvement usually occurs shortly after discontinuing taxanes • The role of immunosuppressive therapy in treating taxanes-induced scleroderma is not clear.

Dataset Information

Systemic Sclerosis Sine Scleroderma Manifested with Gastrointestinal Bleeding, Antiphospholipid Syndrome and Positive Anti-RNA Polymerase III Antibody: Case Report and Literature Review.

Publications

Systemic Sclerosis Sine Scleroderma Manifested with Gastrointestinal Bleeding, Antiphospholipid Syndrome and Positive Anti-RNA Polymerase III Antibody: Case Report and Literature Review.

Similar Datasets

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