Segmentation-Based Analysis of T2- and T1-Weighted Dynamic Magnetic Resonance Images Provides Adequate Observer Agreement in the Evaluation of Interstitial Lung Disease.

OBJECTIVE: The aim of the study is to quantify observer agreement in the magnetic resonance imaging (MRI) classification of inflammatory or fibrotic interstitial lung disease (ILD). METHODS: Our study is a preliminary analysis of a larger prospective cohort. The MRI images of 18 patients with ILD (13 females; mean age, 65 years) were acquired in a 1.5 T scanner and included axial fat-saturated T2-weighted (T2-WI, n = 18) and coronal fat-saturated T1-weighted images before and 1, 3, 5, and 10 minutes after gadolinium administration (n = 16). The MRI studies were evaluated with 2 different methods: a qualitative evaluation (visual assessment and measurement of few regions of interest; evaluations were performed independently by 5 radiologists and 3 times by 1 radiologist) and a segmentation-based analysis with software extraction of signal intensity values (evaluations were performed independently by 2 radiologists and twice by 1 radiologist). Interstitial lung disease was classified as inflammatory or fibrotic, based on previously described imaging criteria. RESULTS: Regarding the qualitative evaluation, intraobserver agreement was excellent (κ = 0.92, P < 0.05) for T2-WI and fair (κ = 0.29, P < 0.05) for T1 dynamic study, while interobserver agreement was moderate (κ = 0.56, P < 0.05) and poor (κ = 0.11, P = 0.18), respectively. In contrast, upon segmentation-based analysis, intraobserver and interobserver agreement were excellent for T2-WI (κ = 0.886, P < 0.001; κ = 1.00, P < 0.001; respectively); for T1-WI, intraobserver agreement was excellent (κ = 0.87, P < 0.05) and interobserver agreement was good (κ = 0.75, P < 0.05). CONCLUSIONS: Segmentation-based MRI analysis is more reproducible than a qualitative evaluation with visual assessment and measurement of few regions of interest.

Lung Magnetic Resonance Imaging for Prediction of Progression in Patients With Nonidiopathic Pulmonary Fibrosis Interstitial Lung Disease: A Pilot Study.

PURPOSE: Correlate magnetic resonance imaging (MRI) parameters at baseline with disease progression in nonidiopathic pulmonary fibrosis interstitial lung disease (ILD). MATERIALS AND METHODS: Prospective observational cohort study, in which patients with non-idiopathic pulmonary fibrosis ILD underwent MRI at baseline (1.5 T). T2-weighted images (T2-WI) were acquired by axial free-breathing respiratory-gated fat-suppressed "periodically rotated overlapping parallel lines with enhanced reconstruction" and T1-weighted images (T1-WI) by coronal end-expiratory breath-hold fat-suppressed "volumetric interpolated breath-hold examination" sequences, before and at time points T1, T3, T5, and T10 minutes after gadolinium administration. After MRI segmentation, signal intensity values were extracted by dedicated software. Percentage of the ILD volume and a ratio between signal intensity of ILD (SIILD) and normal lung (SInormal lung) were calculated for T2-WI; percentage of signal intensity (%SI) at each time point, time to peak enhancement, and percent relative enhancement of ILD in comparison with normal lung (%SIILD/normal lung) were calculated for T1-WI. MRI parameters at baseline were correlated with diagnosis of disease progression and variation in percent predicted forced vital capacity (%FVC) and diffusing capacity of the lung for carbon monoxide after 12 months. RESULTS: Comprehensive MRI evaluation (T2-WI and T1-WI) was performed in 21 of the 25 patients enrolled (68% females; mean age: 62.6 y). Three of the 24 patients who completed follow-up fulfilled criteria for disease progression. Baseline T2-WI SIILD/SInormal lung was higher for the progression group (P = 0.052). T2-WI SIILD/SInormal lung and T1-WI %SIILD/normal lung at T1 were positively correlated with the 12-month variation in %FVC (r = 0.495, P = 0.014 and r = 0.489, P= 0.034, respectively). CONCLUSIONS: Baseline MRI parameters correlate with %FVC decline after 12 months.

Urinary continence recovery after Retzius-sparing robot-assisted radical prostatectomy in relation to surgeon experience.

Urinary incontinence is one of the main concerns for patients after radical prostatectomy. Differences in surgical experience among surgeons could partly explain the wide range of frequencies observed. Our aim was to evaluate the association between the surgeons` experience and center caseload with relation to urinary continence recovery after Retzius-sparing robot-assisted radical prostatectomy (RS-RARP). Prospective observational single-center study. Five surgeons consecutively operated 405 patients between July 2017 and February 2022. Continence recovery was evaluated with pad count and by employing the short form of the International Consultation on Incontinence Questionnaire (ICIQ-SF), pre- and postoperatively at 1 year. Non-parametric tests were used. Median age was 63 years, 30% of patients presented with local advanced disease; the positive surgical margin rate (over 3 mm length) was 16%. Complication rate was 1% (Clavien-Dindo > II). One year after surgery, continence was assessed in 282 patients, of whom 87% were pad free and 51% never leaked (ICIQ-SF = 0). With respect to the mean annual number of procedures per surgeon, divided in < 20, 20-39 and ≥ 40, pad-free rates were achieved in 93%, 85%, and 84% and absence of urine leak rates in 47%, 62% and 48% of patients, respectively. Postoperative median ICIQ-SF was five. We acknowledge the limitation of a 12-month follow-up and the fact that we are a medium-volume center. There is no statistically significant association between continence recovery, surgeon's experience and center caseload. Continence recovery at 1 year after surgery is adequate and robust to surgeon's experience.

A comprehensive diagnostic approach in suspected neurosarcoidosis.

Neurosarcoidosis presents a diagnostic challenge in clinical settings, as it has no pathognomonic symptoms or signs and a wide range of differential diagnoses. The aim of this report is to present the pathological features of our group of patients, obtained through a systematic diagnostic approach. This retrospective cohort study enrolled all adult patients primarily diagnosed with neurosarcoidosis at the neurology department of a tertiary center in Sweden over a period of 30 years, from 1990 to 2021. We identified 90 patients, 54 with possible neurosarcoidosis and 36 with probable neurosarcoidosis. CNS biopsy revealed an alternative diagnosis for 24 patients, who were then excluded. The collected data from medical records included demographic and clinical characteristics, systemic and/or neurological isolated involvement, various laboratory tests, including cerebrospinal fluid (CSF), serum analysis, imaging studies (MRI, FDG-PET/CT, and HRCT), nerve conduction studies, electromyography, and pathology reports of central nervous system (CNS), and extra-neural tissue biopsies. Sixty-six patients were included in our cohort. The median age at onset of symptoms was 49 years, with a similar sex distribution. Cranial neuropathies (38%), motor deficit (32%), headache (16%), and pituitary dysfunction (12%) were the most common presenting features. CSF studies were abnormal in 77% of the patients, who showed lymphocytosis (57%), elevated protein (44%), oligoclonal bands (40%), elevated ACE (28%), and raised T lymphocyte CD4+/CD8+ ratios (13%). Strikingly, MRI showed that 17% of the patients presented with isolated pituitary gland lesions. FDG-PET/CT was performed in 22 patients (33%) and confirmed systemic sarcoidosis in 11. Despite our extensive workup, the final classification for our patients only allowed for a definite diagnosis in 14 patients; the remainder were classified as probable (32) or possible (20) neurosarcoidosis. Since 2007, the employment of a structured laboratory and imaging approach and the increasing number of CNS biopsies have facilitated and improved the process of correct attribution in patients with presumptive neurosarcoidosis, especially in patients with isolated neurological lesions. We highlight a higher frequency of pituitary lesions due to neurosarcoidosis than has been classically described. A detailed laboratory diagnostic workup is included.

Retzius-sparing robot-assisted radical prostatectomy in a medium size oncological center holds adequate oncological and functional outcomes.

Retzius-sparing robot-assisted radical prostatectomy (RS-RARP) has emerged as a surgical option for patients with prostatic cancer in high-volume centers. The objective is to assess oncological and functional outcomes when implementing RS-RARP in a medium-volume center without previous experience of robotic surgery. This is a prospective observational single-center study. Patients operated between July 2017 and April 2020 were divided into two consecutive groups, A and B, each with 104 patients. The surgeons had prior experience in laparoscopic surgery and underwent robotic training. Positive surgical margin (PSM) status, urinary continence, and erectile function projected by Kaplan-Meier curves, together with patient reported quality of life outcomes at 12 months post-surgery were documented. Median patient age was 63 years (IQR = 59-67), overall PSM rate were 33%, 28% for pT2 disease. Pre-operative values showed no significant difference between both groups. The rate of urinary continence dropped from 81 to 78% (SE = 5.7) (Group A) and from 90 to 72% (SE = 6.3) (Group B) using the International Consultation on Incontinence Questionnaire-Short Form. Baseline sexual function was regained in 41% (Group A) and 47% (Group B) of patients. The median Expanded Prostate Index Composite-26 total score decreased from 86 to 82. These outcomes relate favorably to prior reports. There was a clinically significant decrease in median operative time in the successive groups with post-operative complications occurring in less than 2% of surgical procedures overall. A 12-month follow-up suggests that RS-RARP may be safely introduced in a medium-volume center without previous experience of robotic surgery.

Primary Anti-Phospholipid Antibody Syndrome: Real-World Defining Features of Rethrombosis in the Course of Disease.

Objective: We aimed to identify features that allow differentiation of primary antiphospholipid syndrome (PAPS) patients that suffer recurrent thrombotic events (RTE) despite anticoagulation, from the other diagnosed PAPS patients. Methods: This was an exploratory study of anticoagulated PAPS patients attending an Autoimmune Diseases Unit (1998-2018). From 2016, anti-phospholipid antibodies and lupus anticoagulant were determined for each patient at consecutive visits, collected together with retrospective clinical characteristics, laboratory, and therapeutic markers and compared according to the occurrence of thrombotic events during follow-up. Results: Overall, two thirds of the patients were female, 93% were Caucasian, with a median age of 40 years at diagnosis, for a median time of 11.5 years in follow-up. Out of 54 patients, 10 were identified with RTE. There were no significant differences among the RTE and non-RTE patients as far as classical risk factors for clotting disorders. The RTE group was characterized by a higher proportion of younger patients, male sex and positivity for all laboratory markers, and initially and over follow-up as well as a sustained high-risk profile based on APS laboratory markers. Anticardiolipin IgG at onset was the only statistically significant marker of the RTE group. At the end of follow-up, consistent reversion to negative status was a rare event, observed in 20% of RTE vs. 25% of non-RTE patients. Conclusions: Despite therapy, we were able to identify features associated to thrombotic events in patients with PAPS. Prospectively regular clinical and laboratory monitoring might be warranted in order to treat APS more assertively.

A Challenging Case of Eyelid Ptosis and Diplopia Induced by Pembrolizumab.

We present the case of an 83-year-old female patient with gastric adenocarcinoma, who developed a subacute onset of eyelid ptosis and ophthalmoparesis, while being treated with pembrolizumab, raising the suspicion of myasthenia gravis. Workup exposed a broader systemic involvement, with liver, cardiac and skeletal muscle being affected as well. Further investigation lead us to change our initial diagnosis to multisystem inflammatory syndrome with isolated symptomatic ocular myositis, induced by pembrolizumab. High-dose steroids and immunoglobulin were started with a good outcome.

Biological Therapy in Patients with Rheumatoid Arthritis in a Tertiary Center in Portugal: A Cross-Sectional Study.

INTRODUCTION: Clinical outcomes in rheumatoid arthritis have greatly improved with therapeutic advances. Despite the availability of substantial clinical trial evidence, there is a lack of real-life data. The aim of this study was to assess disease status and quality of life in an outpatient population treated with biological disease-modifying anti-rheumatic drugs. MATERIAL AND METHODS: Cross-sectional study recalling all patients ever treated in our unit with biological disease-modifying antirheumatic drugs. Clinical and demographic data, compliance, disease activity, functional status, joint deformities, and comorbidities were documented, and patients queried on occupational status, education, marital status and generic health related quality of life questionnaires. RESULTS: Recall was attended by 77 of the original 94 patients. At recall, median age was 63 years old, 82% of the patients were female and the median disease duration was 12 years. Biological therapy was started at a median of four years following disease onset. According to the disease activity score (DAS28), the percentage of patients with high, moderate, low disease activity or remission changed from 50, 45, 0 and 5 (pre-therapy) to 11, 37, 25 and 26 at recall, respectively; functional status was significantly improved. Seventy-five per cent of the patients retained the original treatment with good compliance. Lower Short Form-36 domain scores accompanied a low EQ-5D-3L score. Deceased patients (n = 6) had a lower estimated 10-year survival rate. In this group, biological therapy was discontinued at a higher frequency during follow-up. DISCUSSION: A high disease activity and a high HAQ disability index characterized most patients at pre-bDMARD onset. CONCLUSION: Despite therapy switches and regular follow-up, a significant percentage of patients still presented with moderate disease activity, functional impairment and a poor health-related quality of life.

Introdução: Avanços no tratamento da artrite reumatóide contribuiram para uma evolução favorável. Apesar de evidências substanciais provenientes de ensaios clínicos, são menos conhecidos os dados provenientes da vida real. O objetivo do estudo foi caracterizar a doença e a qualidade de vida em doentes sob fármacos biotecnológicos. Material e Métodos: Trata-se de um estudo transversal com recolha de dados clínicos relativos à adesão terapêutica, atividade da doença, capacidade funcional, deformidades articulares, comorbilidades e questionários de qualidade de vida relacionada com a saúde, estado civil, situação profissional e escolaridade. Resultados: Foram recrutados 77 doentes do grupo original de um total de 94. A mediana da idade foi 63 anos, 82% do sexo feminino e início de biológico cerca de quatro anos após o início da doença, com uma mediana de duração de 12 anos. De acordo com o disease activity score (DAS28), a percentagem de doentes com atividade alta, moderada, baixa ou em remissão mudou, respectivamente, de 50, 45, 0 e 5 pré- biológico para 11, 37, 25 e 26 na altura da re-avaliação, com melhoria funcional. Setenta e cinco por cento dos doentes mantiveram o tratamento original com boa adesão. Pontuações mais baixas do short form-36 associaram-se a uma baixa pontuação no EQ-5D-3L. No grupo de doentes que viriam a falecer (n = 6), foi observada uma menor esperança de vida aos 10 anos, assim como uma maior discontinuação da terapêutica biológica. Discussão: Pré-biológico, uma elevada percentagem dos doentes apresentava elevada atividade da doença e incapacidade funcional. Conclusão: Não obstante ajustes terapêuticos e seguimento regular, uma percentagem significativa de doentes mantinha atividade moderada e limitação funcional com baixa qualidade de vida relacionada com a saúde.

Retinal and choroidal thickness changes in systemic lupus erythematosus patients: a longitudinal study.

BACKGROUND/OBJECTIVES: To prospectively evaluate changes in peripapillary retinal nerve fibre layer (pRNFL), in all macular layers and in choroidal thickness (CT) in a cohort of systemic lupus erythematosus (SLE) patients without ophthalmologic manifestations. To associate those changes with ophthalmic characteristics, disease activity state, medication and systemic comorbidities. SUBJECTS/METHODS: Prospective cohort study of 68 previously diagnosed SLE patients. In two study visits (V1 and V2) at least 12 months apart, patients underwent a complete ophthalmologic examination including spectral domain-optical coherence tomography (SD-OCT) and an autoimmune disease specialist assessment. Automatic retinal segmentation was performed. pRNFL was determined globally and in the six peripapillary sectors and each macular layer thickness was determined in the nine early treatment diabetic retinopathy study (ETDRS) subfields. CT was manually measured at 13 locations in the posterior pole. Only one eye per patient was randomly selected for inclusion. Generalised linear mixed effects models were employed. RESULTS: Sixty-five patients completed the study. The median follow-up time was twelve months. At V2, pRNFL was significantly thinner globally (p = 0.006) and in the temporal inferior sector (p = 0.017). Patients under chronic medication with anticoagulants or antihypertensives had significantly thinner pRNFL in some locations. No significant changes were observed in macular layers or choroidal thickness between study visits. CONCLUSIONS: SLE patients presented early SD-OCT signs of neurodegeneration, evidenced by a progressive reduction in pRNFL thickness. Regardless of study visit, baseline chronic medication with anticoagulants or antihypertensives was associated with lower pRNFL thickness, accounting for a deleterious effect of cardiovascular risk factors.

Rubrics for mortality: a real-world observational long-term lupus nephritis cohort.

In this study, we aimed to evaluate long-term patient survival according to demographic data, clinical manifestations of systemic lupus erythematosus (SLE) and previous and current treatments, collected retrospectively. Patient selection required a minimum of four American College of Rheumatology revised criteria for SLE, biopsy-proven lupus nephritis (LN) available for reclassification according to the modified National Institutes of Health proposal for activity and chronicity indices and a minimum follow-up of at least three years since the last renal biopsy. Selection criteria were fulfilled in 25 patients followed for a median of 21 years. Based on the last renal biopsy, an equal number of patients were thus classified as class I/II and IV (n=8) and class III and V (n = 4). The mortality rate for LN was 14%. Having ever been diagnosed with glomerulonephritis (GN) type III or type IV but not class IV alone (p = 0.046), a higher histological chronicity index at the last renal biopsy (p = 0.022), not attaining renal remission one year after induction therapy (p = 0.004), end-stage renal disease on dialysis (p = 0.033) and the extra-renal Systemic Lupus International Collaborating Clinics Damage Index score (p = 0.017) were all significantly associated with mortality. Our results may provide important clues for strict observation protocols in particular categories of LN patients with long-standing disease.

Lymphopenia as a risk factor for neurologic involvement and organ damage accrual in patients with systemic lupus erythematosus: A multi-center observational study.

OBJECTIVE: Detailed analysis of hematological manifestations (HM) in systemic lupus erythematosus (SLE) are limited and their clinical impact on disease remain obscure. Here, we aimed to decipher factors associated with different hematological abnormalities in SLE patients and to assess their impact on disease related outcomes. METHODS: A dataset (GIPT) originating from SLE patients of six European tertiary centers was assessed. Six-monthly visits of each patient for at least 2 years were registered. The association between hematologic manifestations (HM; per ACR-1997criteria) and clinical/serologic variables, as well as the impact of HM on disease related outcomes (damage, infection and hemorrhage) were explored. Scores on the Systemic Lupus Erythematosus Disease Activity Index 2000(SLEDAI2K), the Systemic Lupus International Collaborating Clinics (SLICC)/American College of Rheumatology (ACR) Damage Index (SDI) and events for any infection and hemorrhage were recorded. Results were compared with a cross-sectional, well-characterized SLE dataset from Sweden. Descriptive statistics, the generalized estimating equations (GEE), general linear models (GLM), Cox regression models were applied. RESULTS: We monitored 1425 longitudinal visits in 286 SLE patients with HM (GIPT dataset: 88% female, 95% Caucasian, 68% dsDNA positive). Thrombocytopenia (regression coefficient [95% confidence interval] 1.86[1.1-3.13]) and neurologic involvement (ACR-8) (2.1[1.10-3.89]) were associated with lymphopenia (<1000/mm3); the latter was an independent predictor of organ damage accrual (1.68[1.2-2.62]). These associations were confirmed in an independent dataset of 1348 SLE patients (86% female, 93% Caucasian, 61% dsDNA positive) in Sweden.Severe lymphopenia (<500/mm3) and severe thrombocytopenia (<20 K/mm3) were associated with increased risk for infection (hazard ratio [95% confidence interval] 2.56[1.23-5.31]) and hemorrhage (4.38[2.10-11.1]), respectively, independent of the effect of other predictors. CONCLUSION: Lymphopenia in SLE is independently associated with neurologic involvement and organ damage accrual, and thus, may be considered as a marker of severe/progressive disease.

Neurodegeneration in systemic lupus erythematosus: layer by layer retinal study using optical coherence tomography.

BACKGROUND: Systemic lupus erythematosus (SLE) is a chronic, autoimmune and multisystemic disease. Recent studies with functional and structural magnetic resonance imaging and cognitive tests report an unexpectedly high frequency of central nervous system involvement, even in patients with asymptomatic SLE. The purpose of this study was to identify early signs of retinal neurodegeneration by comparing the thickness of the peripapillary retinal nerve fiber layer (pRNFL) and all macular layers between patients with SLE without ophthalmologic manifestations and healthy controls. The effect of disease duration and systemic comorbidities was also studied. METHODS: Cross-sectional study, in which all participants underwent a complete ophthalmologic evaluation including retinal segmentation analysis with spectral domain-optical coherence tomography. Patients with SLE also received a detailed autoimmune disease specialist evaluation to assess the disease activity state and systemic involvement. For pRNFL thickness, the global and six peripapillary sectors were determined. Each macular layer thickness was determined in the nine Early Treatment Diabetic Retinopathy Study (ETDRS) subfields. A multiple linear regression analysis was performed to control for the effect of potential demographic, ophthalmic and systemic confounders. A second multivariable analysis, including patients with SLE only, was performed to assess the effect of disease-specific variables on the outcome measures. RESULTS: Sixty-eight eyes of 68 patients with SLE and 50 eyes of 50 healthy controls were considered. The pRNFL was significantly thinner in the SLE group globally (p = 0.026) and in the temporal superior (p = 0.007) and temporal (p = 0.037) sectors. In patients with SLE, chronic medication for hypercholesterolemia, hypertension and anticoagulants were associated with a significant thinning of the pRNFL. Patients with SLE presented significant thinning in the photoreceptor layer in five ETDRS areas (p < 0.05). Shorter disease duration was associated with greater photoreceptor thinning in all ETDRS subfields. Neuropsychiatric SLE, higher disease activity and cardiovascular risk factors were associated with a thinner photoreceptor layer. No differences were observed in overall retinal thickness or the remaining macular layers. CONCLUSION: Patients with SLE present early signs of retinal neurodegeneration, as evidenced by a reduction in the photoreceptor layer and pRNFL. These signs are more pronounced in patients with higher cardiovascular risk burden or neuropsychiatric involvement.

Dyspnea in antiphospholipid syndrome: Beyond pulmonary embolism.

Pulmonary embolism due to primary antiphospholipid syndrome is rarely associated with chronic thromboembolic pulmonary hypertension, and therefore according to the latest guidelines on pulmonary hypertension, routine screening is not recommended. We describe a young patient with a late diagnosis of chronic thromboembolic pulmonary hypertension in the context of pulmonary embolism, primary antiphospholipid syndrome and suboptimal anticoagulation. Of note, mild cardiopulmonary symptoms were consistently misattributed to a depressive disorder because physical examination was normal, serial Doppler echocardiography failed to show pulmonary hypertension, and all other diagnostic tests were normal. Once symptoms became severe, positive screening tests led to the correct diagnosis and surgical referral, and bilateral pulmonary endarterectomy was successfully performed. This case demonstrates the need for extra awareness in patients with antiphospholipid syndrome and pulmonary embolism.

When systemic lupus erythematosus affects vision: a rare presentation of this condition.

A 23-year-old woman with fever, oral ulcers, arthalgias and weight loss of 2-week duration suddenly developed blurred vision, with reduced visual acuity, cotton wool exudates and retinal vascular tortuosity. Laboratory testing revealed anaemia, lymphopaenia, positive antinuclear antibody and high anti-dsDNA antibody titre with low complement components. There was no evidence of infection, clinching the diagnosis of lupus retinopathy. Steroid therapy alone was highly effective and was also accompanied by a normalisation of haemoglobin and lymphocyte counts, after which azathioprine was added. Hydroxychloroquine was introduced after resolution of retinal changes. Immunosuppressive therapy was progressively tapered over the course of 12 months and then discontinued, and the patient remains in remission 48 months after the initial presentation. Our patient exemplifies a very rare manifestation of systemic lupus erythematosus. We emphasise the importance of its early detection and complexity of treatment in order to reduce visual morbidity.

SAPHO: has the time come for tailored therapy?

SAPHO (synovitis, acne, pustulosis, hyperostosis and osteitis) syndrome is a heterogeneous condition combining osteoarticular and cutaneous manifestations. Conventional treatments are mostly ineffective. We hereby report two patients, the first with an aggressive form of disease and the second with an incomplete response to two different anti-TNF-α agents. Both were successfully treated with tocilizumab and ustekinumab, respectively, over a long period of time. A narrative review of a biological therapy in SAPHO syndrome yielded very little information on the specific use of these agents. We highlight the advantages of personalising therapy and describe emerging promising treatments for this disease.

Heterogeneous lupus-specific lesions and treatment outcome, in a single patient, over a period of time.

The report highlights the importance of strict clinico-histological correlations when skin biopsies are performed in diagnostic doubt in systemic lupus erythematosus. Furthermore, PUVA is never indicated in autoimmune conditions involving photosensitivity, due to high potential for internal and cutaneous aggravation of the disease, as the authors observed in this case.

Mandibular resorption and vocal cord paralysis: a catastrophic form of systemic sclerosis.

Sudden respiratory distress in association with severe weight loss are unusual features of systemic sclerosis (SSc). We report the case of a 56-year-old Caucasian woman with a 9-year history of a diffuse form of SSc who presented with acute stridor due to vocal cord paralysis and required an emergency tracheostomy. She had sought medical attention only after 4 years of disease onset, presenting with a mask-like face, diffuse skin thickening, acro-osteolysis and severe interstitial lung disease. Even though skin tightness improved after immunosuppressive treatment, several spontaneous facial fractures and episodes of dysphagia and choking occurred in the years that followed. At the time of stridor, she was severely malnourished and a percutaneous endoscopic gastrostomy was required for feeding. Permanent vocal cord damage in combination with severe loco-regional bone resorption resulted in severe disability and impaired nutrition. We hereby highlight the features of SSc for which therapy remains challenging.