Unusual presentation of scleroderma: case report

Introduction

Systemic sclerosis (SS), also known as scleroderma, is a rare, acquired autoimmune disease of the connective tissue characterized by hardening and tightening of the skin due to an overproduction of collagen (1). In addition to the skin, SS can also affect blood vessels, internal organs, the urinary bladder and the digestive tract (1). When SS only affects the skin, it is referred to as morphea (1). Three forms are distinguished: limited cutaneous SS, diffuse cutaneous SS and SS sine scleroderma (2). The prevalence is estimated at 1:4,000 (2). There is no cure for scleroderma, but treatments can alleviate symptoms, slow progression and improve quality of life (1). Vascular involvement in SS manifests as migraine (3), coronary vasospasm (4) or Raynaud’s syndrome (5). Vascular involvement is due to progressive thickening and perforation of the innermost layer of the arteries, so that cold exposure further restricts blood flow due to a vasospastic reaction (2). Pulmonary fibrosis is a common pulmonary manifestation of SS (6). The combination of neurological, cardiac, and pulmonary disease in patients with SS has rarely been reported (3). Here we present an SS patient who presented with migraine without aura, Raynaud’s phenomenon, postural tachycardia syndrome (POTS) and pulmonary fibrosis, which had not been previously reported in the same patient. This article is presented in accordance with the CARE reporting checklist (available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0002/rc).

Case presentation

The patient is a 53-year-old Caucasian woman who has suffered from migraines without aura since the age of 6 years. From the age of 31 years, she developed Raynaud’s syndrome with several attacks a day, which could be triggered by cold and also occurred in summer (Figure 1). At the age of 32 years, she was diagnosed with SS according to the European Alliance of Associations for Rheumatology (EULAR) criteria based on the clinical picture (scleroderma), capillaroscopy (giant capillaries, capillary loss, microhemorrhages), and serological tests. Anti-centromere antibodies (ACA), anti-topoisomerase I antibodies (ATA) and anti-RNA polymerase III antibodies (ARA) were positive (7). During the pregnancy at the age of 33 years, the migraine attacks disappeared completely, an effect that persisted from 5 years after the pregnancy. From the age of 43 years, she was put on prophylaxis with valproic acid, which was discontinued again at age 51 years. At the age of 47 years, she reported 12 headache days per month. She developed palpitations at the age of 51 years. The frequency of migraines at the age of 51 was 2–3/month. At the age of 52 years, pulmonary fibrosis with secondary pulmonary hypertension was diagnosed and bosentan was administered (Figure 2). At the age of 52 years, she also suffered severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection complicated by presumed myocarditis and long coronavirus disease 2019 (COVID-19) syndrome (fatigue, palpitations, blood pressure fluctuations, shortness of breath, nausea, persistent fatigue and heartburn). The frequency of migraines was one per week at the age of 53 years. The medical history also included osteoporosis as a result of 4 years of corticosteroid use, intolerance to nitrous oxide and recurrent urinary tract infections. All procedures performed in this case were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Figure 1 Index patient’s fingers of the right hand showing persistent acral cyanosis. View from the dorsal side (A) and from the palmar side (B).

Figure 2 Lung CT showing pulmonary fibrosis. Arrows show lung areas with connective tissue. CT, computed tomography.

The clinical neurological examination revealed a mouse face, painful neck muscles, myopia, dysarthria, hypophonia, bilateral signe des cils (Figure 3) bilaterally reduced tendon reflexes, and marked reduction of subcutaneous fat. The blood tests showed positive ACA, ATA and ARA. anti-nuclear antibodies (ANA) of 1:320, Ro antibodies of 20 U/mL (n, <7 U/mL), positive Jo-1 antibodies, and elevated anti-nucleosome antibodies. Nerve conduction studies of the median, ulnar, peroneal, and sural nerves were normal. Electromyography from the biceps muscles was inconclusive. Cerebral magnetic resonance imaging (MRI) showed only isolated non-specific gliotic spots. Magnetic resonance angiography was normal. The tilt table test indicated POTS. Electrocardiogram (ECG) and cardiac MRI were normal. She was currently taking folic acid, bosentan and non-steroidal analgesics for migraine attacks. She did not agree to take calcitonin gene-related peptide (CGRP)-antagonists (e.g., erenumab) or tryptans for migraine or tizanidine for tension headaches.

Figure 3 “Signe des cils” due to skin thickening. This image is published with the patient’s consent.

Discussion

The patient presented is interesting for several aspects. First, the patient had SS manifested not only by thickening of the skin but also by vascular involvement in the form of migraine, POTS and Raynaud’s syndrome. Each of these manifestations has been described separately along with SS (8-10). In a study of 16 SS patients, 13 presented with a history of migraine (3). Migraine has also been reported in a patient with CREST syndrome (1). There are also SS patients who developed headache due to reversible cerebral vasoconstriction syndrome (11). However, the combination of these manifestations, in addition to pulmonary fibrosis, in a single patient has not been described previously. The pathophysiology of vascular involvement in SS is poorly understood but is speculated to be due to complex interactions between endothelial cells, vascular smooth muscle cells, extracellular matrix and circulating mediators that contribute to vascular remodeling, vasospasm and vascular occlusion (2).

Second, the patient had decreased tendon reflexes but normal nerve conduction studies and electromyography. Since the patient also denied motor and sensory manifestations of polyneuropathy, it is speculated that the reflex response was diminished due to the thickening and decreased elasticity of the skin. The thickening of the skin reduces the mobility of the joints, resulting in an apparently reduced reflex response.

Third, the patient not only had migraines but also tension-type headaches. The cause of the tension-type headache also remains unknown, but it can be hypothesized that it was due to misalignment of the cervical spine as a complication of the stiff skin.

Fourth, the patient presented with signe des cils, which is attributed to facial skin impairment in SS. Due to the lack of elasticity of the skin and tightening, the patient could not close his eyes properly, but there was no lagophthalmos.

Fifth, the patient was classified as having diffuse cutaneous SS, which, like limited cutaneous SS, can involve internal organs (2). Fittingly, the index patient had lung involvement, probably cardiac involvement, and probably urinary bladder involvement, confirming multi-organ involvement in patients with diffuse cutaneous SS.

Conclusions

In summary, this case shows that diffuse cutaneous SS can present with migraine as the initial manifestation, followed by Raynaud’s syndrome, pulmonary fibrosis, tension-type headache and POTS. Previously unreported manifestations of diffuse cutaneous SS were “signe des cils” and apparently reduced tendon reflexes. Whether the migraine in SS responds to sartans and CGRP antagonists remains speculative, as the patient refused to take them. Early diagnosis of SS is crucial as early treatment with methotrexate may slow disease progression and bosentan may alleviate pulmonary hypertension and its complications. The patient benefited from methotrexate and bosentan.

Acknowledgments

None.

Footnote

Reporting Checklist: The author has completed the CARE reporting checklist. Available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0002/rc

Peer Review File: Available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0002/prf

Funding: None.

Conflicts of Interest: The author has completed the ICMJE uniform disclosure form (available at https://acr.amegroups.com/article/view/10.21037/acr-2026-0002/coif). The author has no conflicts of interest to declare.

Ethical Statement: The author is accountable for all aspects of the work in ensuring that questions related to the accuracy or integrity of any part of the work are appropriately investigated and resolved. All procedures performed in this case were in accordance with the ethical standards of the institutional and/or national research committee(s) and with the Helsinki Declaration and its subsequent amendments. Written informed consent was obtained from the patient for publication of this case report and accompanying images. A copy of the written consent is available for review by the editorial office of this journal.

Open Access Statement: This is an Open Access article distributed in accordance with the Creative Commons Attribution-NonCommercial-NoDerivs 4.0 International License (CC BY-NC-ND 4.0), which permits the non-commercial replication and distribution of the article with the strict proviso that no changes or edits are made and the original work is properly cited (including links to both the formal publication through the relevant DOI and the license). See: https://creativecommons.org/licenses/by-nc-nd/4.0/.

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