Manifestations Of Scleroderma Research Articles

Total Facial Autologous Fat Grafting for Treating Skin Manifestations in Scleroderma.

Systemic sclerosis (SSc) or scleroderma, is a rare, systemic autoimmune connective tissue disease that can cause fibrosis of cutaneous tissue and visceral organs. Facial involvement can have a deleterious effect on patients' function, cosmetic appearance and quality of life. This study describes our experience and results with total facial autologous fat grafting for treating scleroderma. It includes 14 women and 3 men with SSc, at an average age of 51.3 years who underwent 32 autologous fat grafting surgeries between 2017-2022. The surgical technique is further described and demographic and surgical data, including preoperative and postoperative measurements were analyzed. Patients who had multiple surgeries ultimately received grafts with twice the volume of fat than in the first procedure. The oral opening increased an average of 33%. All patients reported improvement in quality of life and were very satisfied with the aesthetic outcomes. The use of autologous fat grafting to treat SSc patients successfully increased oral openings and improved facial manifestations. The procedure is reproducible, safe and leads to improvement in facial manifestations and patients' quality of life. It can be repeated over time to preserve or enhance the results.

The Collaborative National Quality and Efficacy Registry for Scleroderma: association of medication use on gastrointestinal tract symptoms in early disease and the importance of tobacco cessation.

Systemic Sclerosis (SSc) is frequently associated with gastrointestinal tract (GIT) involvement. The Collaborative National Quality and Efficacy Registry (CONQUER) is a US-based collaborative study collecting longitudinal follow up data on SSc patients with less than 5-years disease duration enrolled at Scleroderma centres of excellence. This manuscript presents the GIT natural history and outcomes in relation to other scleroderma manifestations and medication exposures. CONQUER participants that had completed a minimum of two serial Scleroderma Clinical Trials Consortium GIT Questionnaires (GIT 2.0) were included in this analysis. Patients were categorised by total GIT 2.0 severity at baseline, and by category change: none-to-mild (0.49); moderate (0.50-1.00), and severe-to-very severe (1.01-3.00) at the subsequent visit. Based on this data, four groups were identified: none-to-mild with no change, moderate-to-severe with no change, improvement, or worsening. Clinical features and medications, categorised as gastrointestinal tract targeted therapy, anti-fibrotic, immunosuppression, or immunomodulatory drugs, were recorded. Analysis included a proportional odds modelaccounting for linear and mixed effects of described variables. 415 enrolled CONQUER participants met project inclusion criteria. Most participants had stable mild GIT symptoms at baseline and were on immunomodulatory and anti-reflux therapy. In most patients, anti-reflux medication and immunosuppression initiation preceded the baseline visit, whereas anti-fibrotic initiation occurred at or after the baseline visit. In the proportional odds model, worsening GIT score at the follow-up visit was associated with current tobacco use (odds ratio: 3.48 (1.22, 9.98, p 0.020). This report from the CONQUER cohort, suggests that most patients with early SSc have stable and mild GIT disease. Closer follow-up was associated with milder, stable GIT symptoms. There was no clear association between immunosuppression or anti-fibrotic use and severity of GIT symptoms. However, active tobacco use was associated with worse GIT symptoms, highlighting the importance of smoking cessation counselling in this population.

Renal Crisis as the Initial Manifestation of Scleroderma

We report the case of a young Hispanic woman who was originally admitted to the emergency department following hypertensive urgency and right-sided blurry vision. The patient did not carry a diagnosis of scleroderma at the time of the visit. However, upon further evaluation, the patient was found to have a scleroderma renal crisis. An angiotensin-converting enzyme (ACE) inhibitor was initiated promptly with subsequent normalization of the blood pressure and creatinine level. Scleroderma renal crisis is a rare, highly feared complication of scleroderma that if left untreated can be life-threatening. Therefore, it is important to identify this condition early and initiate therapy without delay.

Successful Treatment of medically refractory scleroderma digital gangrene with long-term continuous brachial plexus block

Raynaud’s phenomenon (RP) is the earliest and most common clinical manifestation of scleroderma, occurring in 90 to 98% of patients [1]. A combination of sympathetically mediated vasospasm and vasoocclusive disease has been implicated in the etiology of digital ischemic phenomenon [2,3], and treatment of RP is directed towards relieving vasospasm and restoring blood flow. Therefore, cervicothoracic or peripheral sympatholysis and digital artery reconstruction have been performed for medically refractory RP with scleroderma even though all procedures have some limitations. Thoracoscopic symapthectomy has recently been shown to have an initial improvement, although almost always relapses 6 months after the treatment [4,5]. Surgery of the hand, including digital sympathectomy and arterial reconstruction, for scleroderma might have favorable outcomes [6,7]. However, it would be a limited treatment option because of a recurrent ulcer after surgery [8], delayed wound healing [8,9], and development of complex regional pain syndrome [10]. Another alternative and less invasive treatment for blocking the sympathetic outflow would be a sympathetic block with local anesthetics [11,12]. These therapies are based on the premise that excessive sympathetic activity may be involved in the pathogenesis of digital ischemia.

Serum interleukin 23 and its associations with interstitial lung disease and clinical manifestations of scleroderma

IntroductionSystemic sclerosis (SSc) is a complex disease linked to immune system activation, vascular damage, associated with increased synthesis, and deposition of extracellular matrix, which contain excessive amounts of structurally normal collagen. Interleukin 23 (IL-23) might play a role in disease development and severity. This study aimed to assess the relationship between serum level of IL-23 and interstitial lung disease in SSc.Patients and methodsThirty patients with SSc together with 30 age-matched and sex-matched healthy volunteers were recruited in this study. Serum IL-23 levels were measured by enzyme-linked immunosorbent assay. Functionally, lung involvement was assessed by pulmonary function tests and radiologically by chest radiography and high-resolution computed tomography of the lungs.ResultsMean serum IL-23 level was significantly highly elevated in SSc patients compared with healthy controls (P<0.005). Patients with elevated IL-23 levels exhibited shorter disease duration (P<0.05). Moreover, mean serum IL-23 level was elevated in diffuse SSc cases compared with limited SSc cases and in cases with pulmonary fibrosis (P<0.05), although they were not associated with other clinical features. Elevated mean serum IL-23 level was significantly higher in mild restrictive cases compared with moderate and severe restrictive cases. As regards highresolution computed tomography, mean serum IL-23 level was statistically highly significantly elevated in cases with ground-glass appearance (P<0.001) compared with others.ConclusionAlterations in serum concentrations of IL-23 support the hypothesis that IL-23 is associated with induction of SSc generally and SSc associated with interstitial lung disease specifically. Presumably, blockage of IL-23 could be used as a potential therapeutic target in early SSc.

Oral manifestations of Systemic Sclerosis and Correlation with anti-Topoisomerase I Antibodies (SCL-70).

Introduction:Progressive systemic sclerosis (PSS) is a chronic autoimmune illness. Clinical oral manifestations in Scleroderma are very frequent.Aim:To explore the oral manifestations, frequent and rare, to investigate whether there are differences between gender and the observed correlation of changes in relation to Antibodies Anti-Topoisomerase I.Material and methods:in the study were included 75 patients (65 females and 10 males), their mean age was 45.2±10, duration of illness was around 5.1±12 years diagnosed according to the ACR criteria and treated in the period 2010-2013.Results:98.7% of our patients were ANA positive, whereas 49.3% of them were Anti SCL-70 positive. Patients in 91% of cases had one or more oral manifestations of disease. The most frequent oral manifestations are: small mouth (n = 39), the lingua short frenulum (n = 21), Xerostomia (n = 24) and paradontopathia (n = 16), while more rare are: Telangiectasia (n = 14), decreased interincisal distance (n = 9), missing teeth (n = 9), absorption of dental alveoli (n = 5) and Neuralgia n. trigeminus (n = 3). Oral symptoms have been frequent in patients with Scleroderma, SCL -70 positive but not statistically significant difference.Conclusions:Oral changes have high frequency in patients with Scleroderma and these changes provide high discomfort of the mouth and lower quality of life. Oral health care to patients with Scleroderma is very important and it affects a lot in reducing the level of disease and increase the quality of life.

Evaluation and management of gastrointestinal manifestations in scleroderma.

The gastrointestinal tract is the most common extra-cutaneous organ system involved with systemic sclerosis (SSc) affecting approximately 90% of patients. This review summarizes the recent advances in the evaluation and management of gastrointestinal manifestations of SSc. There is a growing body of evidence that uncontrolled GERD can play a significant role in the pathogenesis of SSc-associated interstitial lung disease. Newer forms of management of Barrett esophagus are showing significant promise as potentially curative therapy. Gastric antral vascular ectasias have strongly been associated with the presence of RNA polymerase III antibody. Newer technologies have advanced the assessment of gastrointestinal dysmotility in SSc. Evidence of probiotic use for the treatment of gastrointestinal complications is emerging. The UCLA SCTC GIT 2.0 questionnaire is being increasingly accepted by the SSc experts as a validated instrument for evaluation of patient-reported outcomes involving the gastrointestinal tract. Our knowledge of the complex pathogenesis of gastrointestinal manifestations of SSc has expanded substantially in the last few decades. There has also been considerable technological progress in the evaluation of these manifestations. Patient care is being optimized by close collaboration of rheumatologists and gastroenterologists, leading to a more coordinated approach in the management of these complications.

Bilateral coxitis in scleroderma-polymyositis overlap syndrome.

Joint manifestations in scleroderma (Scl) and polymyositis (PM) are dominated by inflammatory arthralgia. Arthritis is less common and preferentially affects the hands, wrists, knees, and ankles. Involvement of the hip has been rarely reported in the literature. We report a case of coxitis diagnosed in a patient suffering from scleroderma-polymyositis overlap syndrome successfully treated by ultrasound-guided infiltration of triamcinolone hexacetonide.

Autoimmune Complications after Hematopoietic Stem Cell Transplantation in Children with Nonmalignant Disorders

Background. Hematopoietic stem cell transplantation (HSCT) remains the only curative treatment for many nonmalignant disorders, such as autoimmune disorders, inborn metabolic disorders, hemoglobinopathies, and immunodeficiency disorders. Autoimmune complications (AICs) after HSCT, such as autoimmune cytopenias, autoimmune hepatitis, primary biliary cirrhosis, and autoimmune cutaneous manifestations, are still neither well defined nor characterized. Patients. Between 2000 and 2012, 92 patients (47 males, 45 females) were treated with HSCT in our hospital, 51 with congenital hemoglobinopathies, 19 with primary immunodeficiency disease, 10 with metabolic disorders, five with Fanconi anemia, three with aplastic anemia, and four with familial hemophagocytic lymphohistiocytosis. Results. Mean age at HSCT was 6.4 years (range, 0.2–32 years) and mean duration of followup after HSCT was 6.81 years (range, 1–11 years). Sixteen (17.4%) patients developed chronic GVHD and five (5.4%) showed sclerodermatous features. Five (5.4%) patients were diagnosed with scleroderma manifestations, six (6.5%) with vitiligo, six (6.5%) with autoimmune hemolytic anemia (AIHA), six (6.5%) with idiopathic thrombocytopenia, three (3.3%) with mild leucopenia, two (2.2%) with aplastic anemia, two (2.2%) (one boy, one girl) with autoimmune thyroid disease, and one (1.1%) with autoimmune hepatitis. Conclusions. It was concluded that AICs are clinically significant complications after HSCT that contribute to morbidity but not to mortality. AICs are more frequent after HSCT for metabolic disorders, and sclerodermatous GVHD is more significant in children who underwent allogeneic HSCT for hemoglobinopathies. The potential to identify risk factors for AICs could lead to less morbidity and mortality and to maintain the patient's quality of life.

N-TproBNP as Biomarker in Systemic Sclerosis

Systemic sclerosis (SSc) is a connective tissue disorder characterized by tissue fibrosis affecting the skin and internal organs, fibroproliferative vasculopathy, and autoimmune activation. SSc still heralds a poor prognosis with significant morbidity and mortality. Early detection of organ involvement is critical as currently available treatments are most effective when started early. Many candidate biomarkers have been investigated in the past two decades. However, despite the enormous efforts, no accurate tool to predict the pattern of organ involvement and to assess disease activity has been yet identified. The N-terminal fragment of probrain natriuretic peptide (N-TproBNP) is a neurohormone released by ventricular myocytes in response to pressure overload. N-TproBNP is highly relevant for diagnosis, prognosis, and prediction of pulmonary arterial hypertension in SSc. Moreover, several studies support its potential benefit for cardiac assessment of scleroderma patients. Conversely, the role of N-TproBNP as surrogate marker of pulmonary fibrosis and skin involvement is much less clear. We provide an extensive review of the studies that have previously investigated the role of N-TproBNP as candidate biomarker in scleroderma manifestations, presenting also the findings of a recent study we conducted in a cohort of 87 SSc patients.

Neurologic Manifestations of Autoimmune Diseases

Autoimmune diseases have a broad spectrum of clinical manifestations. Among them, neurologic involvement, both from the central nervous system as well as from the peripheral nervous system, is among the most challenging manifestations, regarding diagnosis and treatment [1]. Neurologic involvement in systemic lupus erythematosus and antiphospholipid syndrome is frequently observed, and reported and several etiological factors are involved including immunomediated damage and thrombosis [1, 2]. In this issue, we focused on less frequently described neurologic manifestations. One of the papers describes complex regional pain syndrome (CRPS) in a patient with adult onset Still's disease. CRPS is a chronic neuropathic pain disorder characterized by neuropathic pain and associated with local edema and changes suggestive of autonomic involvement such as altered sweating, skin color, and skin temperature of the affected region. Although it has been described in patients following trauma, psychiatric conditions, and malignancy, the association of CRPS with other autoimmune diseases is rare. The paper entitled “Sensory neuronopathy and autoimmune diseases” describes the importance of recognizing this clinical entity, frequently characterized by ataxia and often associated with systemic autoimmune diseases. The authors discuss not only the epidemiologicy and pathophysiology of this syndrome, but also emphasize clinical findings and discuss specific autoimmune diseases where sensory neuronopathy is frequently observed. Broad aspects of the involvement of the nervous system in Sjogren's disease are described in the paper entitled “Neurological disorders in primary Sjogren's syndrome.” The authors not only discuss the clinical aspects and physiopathology of central and peripheral nervous system involvement, but also emphasize biological markers for neurologic involvement in this disease. In the practical aspect of the paper, the authors discuss treatment, including immunosupressive drugs, anti-TNF drugs, and other biological therapies such as rituximab. Localized scleroderma is a rare disease, characterized by sclerotic lesions. A variety of presentations have been described, with different clinical characteristics and specific prognosis. Once considered an exclusive cutaneous disorder, the neurologic involvement present in localized scleroderma has been described in several case reports. Seizures are most frequently observed, but focal neurologic deficits, movement disorders, trigeminal neuralgia, and mimics of hemiplegic migraines have been reported. In the paper “Neurologic involvement in scleroderma en coup de sabre” the authors describe clinical and radiologic aspects of neurologic involvement in localized scleroderma. Although no randomized controlled trials exist for treatment of neurologic manifestations in scleroderma en coup de sabre, the authors describe the current literature findings. In the paper “Significant changes in the levels of secreted cytokines in brains of experimental antiphospholipid syndrome mice” the authors examined the role of proinflammatory and anti-inflammatory cytokines in experimental APS (eAPS) mice brains. The authors showed that other immune mediators, apart from autoantibodies, are important in the inflammatory and degenerative processes in the APS brain. These results are encouraging and endeavor clinical studies in APS patients with neurologic symptoms with immunomodulatory drugs. Simone Appenzeller Yehuda Shoenfeld Jozelio Freire de Carvalho

Renal Manifestations in Scleroderma: Evidence for Subclinical Renal Disease as a Marker of Vasculopathy

Scleroderma is a disease characterized by immune activation, vasculopathy, fibroblast stimulation, and connective tissue fibrosis. End-organ damage occurs due to progressive tissue fibrosis and vasculopathy. Markers of incipient vasculopathy have not been well studied in scleroderma. However, reduced renal functional reserve and proteinuria are common indicators of progressive vasculopathy in diabetic and hypertensive vasculopathy. Recent studies suggest a strong association between renal involvement and outcomes in scleroderma, with a threefold increased risk of mortality from pulmonary hypertension if renal insufficiency is present. We review the types of renal involvement seen in scleroderma and the data to support the use of renal parameters including proteinuria, glomerular filtration rate, and renal vascular dynamics measured with Doppler ultrasound to identify subclinical renal insufficiency. Further studies are warranted to investigate the use of renal parameters as prognostic indicators in scleroderma.

Prosthodontic Management Of An Edentulous Patient With Systemic Sclerosis

Systemic sclerosis is a chronic multisystem progressive disease affecting the connective tissues. The thickened skin distinguishes scleroderma from other connective tissue diseases. The oral aperture may be greatly reduced and the resultant microstomia with limited oral access presents a challenge to prosthodontic treatment. A brief review of the manifestations of scleroderma and the clinical procedure for dental rehabilitation in a patient with microstomia is presented.

Association between scleroderma, renal cell carcinoma and membranous nephropathy

We report a patient with scleroderma, renal cell carcinoma (RCC) and membranous nephropathy (MN). Certain clinical and laboratory features suggested that RCC caused or enhanced the other two conditions. A 55-year-old man developed scleroderma which progressed rapidly during its first 2 years with development of hypertension and acute renal failure, peak serum creatinine (SCr) 327 micromol/l (3.7 mg/dl) and partial improvement of the renal function (SCr 239 micromol/l or 2.7 mg/dl) after initiation of an angiotensin converting enzyme inhibitor. He subsequently developed nephrotic syndrome (urine protein excretion 9 gm/24-h) and progressive renal failure, with SCr 469 +/- 18 micromol/l (5.3 +/- 0.2 mg/dl). An anti-nuclear mitotic apparatus protein (NUMA) antibody, which is uncommon in scleroderma but has been linked to certain malignancies, was found in his serum. A left upper pole RCC was removed by heminephrectomy. MN was found in the renal parenchyma adjacent to the excised tumor. In the 3.5 years following surgery, the clinical manifestations of scleroderma have been arrested while the medications prescribed for this condition have been greatly reduced. Proteinuria is consistently less than 1 gm/24-h and 42 months after surgery serum creatinine was 256 micromol/l (2.9 mg/dl). Nutrition has also improved. Although this case may represent chance occurrence of three uncommon diseases (scleroderma, RCC, MN) in the same individual, the sustained improvement of the manifestations of scleroderma and MN after resection of the RCC contrasted to the rapid course of these conditions until the surgery, and the presence in the patient's serum of an autoantibody which is uncommon in patients with scleroderma, but has been linked to malignancy, suggest a pathogenetic relationship between the three conditions.

Fever of unknown origin secondary to type I crescentic glomerulonephritis and anti-SCl 70 antibodies without clinical manifestations of systemic sclerosis

A 57-year-old woman presented with fever and cellulitis of the right leg. Urinalysis and kidney function were normal on admission. Cellulitis remitted but fever persisted for six weeks. X-ray imaging, cultures, serological assays for viruses and autoimmunity did not reveal the cause of fever. Unexpectedly anti-Scl 70 (anti-topoisomerase I) antibodies were positive. A skin biopsy ruled out scleroderma. On the fifth hospitalization week kidney function declined in association with hematuria, leucocyturia, and proteinuria. Prednisone was administered due to clinical suspicion of drug-induced interstitial nephritis. Fever declined in 24 h, but renal failure became rapidly worse requiring hemodialysis. Kidney biopsy revealed extensive crescentic glomerulonephritis (CGN), with much glomerular destruction, with an IgG-positive linear pattern on immunofluorescence microscopy. No overtly active microangiopathy or vasculitis were present. There was no pulmonary involvement and anti-glomerular basement membrane antibodies were not detected in the serum. After one year anti-Scl 70 antibodies were still positive without scleroderma manifestations and 17 months later the patient received a kidney transplant with excellent results. Presentation of type 1 CGN as a fever of unknown origin (FUO) is exceptional. Anti-Scl 70 antibodies are highly specific for scleroderma and are seldom present in other diseases. As far as we are aware there are no published cases of the association of type 1 CGN with anti-Scl 70 antibodies.

Calcareous Lesions of the Distal Extremities Resembling Tumoral Calcinosis (Tumoral Calcinosislike Lesions): Clinicopathologic Study of 43 Cases Emphasizing a Pathogenesis-based Approach to Classification

Herein, we analyze the clinicopathologic features of 46 distal extremity lesions that have histologic features similar to conventional tumoral calcinosis (tumoral calcinosislike; TC-L). The study included 31 females and 12 males (whites:non-whites>3:1) ranging in age from 1 to 91 (mean, 39; median, 42) years. The lesions presented in fingers (n=20), feet (n=10), wrist (n=6), hands (5), toes (n=4), and ankle (n=1) were solitary in all but 5 patients and ranged in size from 0.3 to 4.5 (mean, 1.6; median, 1.4) cm. Chief initial complaints included presence of a painful (n=16) or asymptomatic (n=7) mass, and limitation of joint mobility (n=3). Pertinent clinical associations included antecedent trauma (n=7), scleroderma (n=3), long-standing osteoarthritis (n=3), bony deformities (n=5), including 2 infants with congenital hand malformations, and chronic renal failure (n=2). Patients were stratified into one of the 3 recognized clinical settings of TC: primary normophosphatemic (n=17), secondary (n=5), or primary hyperphosphatemic TC (n=1). The 20 remaining patients were placed in an "indeterminate TC" category. Most lesions were located in tenosynovial/fascial tissue, but 13 lesions involved dermis and 1 was intra-articular. Histologically, the process consisted of multiple cystic or cleftlike spaces bordered by histiocytes, osteoclastlike giant cells, and a variable inflammatory infiltrate and containing fibrin, granular calcific debris, and calcospherites. Pools of calcific debris bordered by sclerotic collagen and a sparse cellular element predominated in 4 cases. Cartilaginous metaplasia was identified in 10 lesions and evidence of hemorrhage or specific injury was observed in 12 examples. Follow-up data for 22 patients (interval range, 1 to 30 y; median, 6 y) revealed 17 individuals with no evidence of recurrent disease or the development of additional lesions after simple (local) excision. One patient (indeterminate TC) required reexcision of a thumb mass 1 year after surgery. All 3 scleroderma patients developed additional TC-L lesions. Acral TC-L lesions are histologically similar to conventional TC, but present as smaller size lesions. Most TC-L lesions are closely aligned with primary normophosphatemic or secondary TC. Acral TC-L lesions may be the first manifestation of scleroderma, where the process has the potential to follow an unrelenting course.

Prevalência de achados cutâneos em portadores de esclerose sistêmica: experiência de um hospital universitário

FUNDAMENTOS: A esclerose sistêmica é colagenose pouco comum e muito rica em manifestações cutâneas. OBJETIVO: Estudar a prevalência das manifestações cutâneas na esclerose sistêmica em geral e nos seus diferentes subtipos (formas limitada, generalizada e mista). MÉTODOS: Analisaram-se 32 pacientes de esclerose sistêmica (20 com forma limitada, oito com generalizada e quatro com forma mista) quanto à esclerose de pele, fenômeno de Raynaud, cicatrizes estelares, telangiectasias, leucomelanodermia, microstomia, calcinose e prurido. RESULTADOS: Encontraram-se esclerose de pele e fenômeno de Raynaud em 100% dos pacientes; cicatrizes estelares em 65,6%; telangiectasias em 43,7%; leucomelanodermia em 43,7%; microstomia em 31,25%; prurido em 28,1% e calcinose em 12,5%. Não se observaram diferenças entre as formas localizada e difusa da doença, sendo p = 1 para cicatrizes estelares; p = 0,69 para telangiectasias; p = 0,22 para microstomia, p = 1 para calcinose e prurido. A forma mista de doença não diferiu das formas isoladas (limitada e difusa) quanto aos mesmos achados. CONCLUSÕES: As manifestações mais comuns na esclerose sistêmica são a esclerose de pele e o fenômeno de Raynaud, e a mais rara é a calcinose. As três formas apresentam freqüências semelhantes de Raynaud, cicatrizes estelares, microstomia, telangiectasia, calcinose e prurido.

Spontaneous Pneumothorax in Scleroderma

We present an illustrative case of a patient with advanced scleroderma who presented with a spontaneous pneumothorax, a condition that has only rarely been reported previously in association with scleroderma. Our patient and those previously reported had advanced pulmonary fibrosis with honeycombing and subpleural cysts, with spontaneous pneumothorax occurring secondary to cyst rupture. Our patient was treated with chest tube thoracostomy, but her spontaneous pneumothorax later recurred. She was then treated with talc pleurodesis and has not had a recurrence in 18 months of follow-up.Spontaneous pneumothorax remains a rare pulmonary manifestation of scleroderma, occurring only in patients with advanced pulmonary fibrosis associated with cyst formation and rupture. Initial management consists of chest tube insertion, but recurrence is high and may require pleurodesis or partial lobectomy. Physicians managing patients with scleroderma should be aware of spontaneous pneumothorax, especially in those with advanced pulmonary fibrosis and subpleural cysts.

Manometric analysis of patients with gastrointestinal manifestations of scleroderma

Purpose: The aim of this study was to analyze esophageal, anorectal and small bowel manometry studies in patients with scleroderma to determine whether GI symptoms correlate with manometric findings, and to determine if the findings of one GI manometric study predict the findings of another. Methods: Esophageal, duodenal and anorectal manometry studies from 32 scleroderma patients with GI symptoms were evaluated. Symptoms were recorded at the time of initial evaluation. Esophageal manometry (EMS) parameters included: LES pressure, percent LES relaxation, and amplitude of esophageal body contractions. Anorectal manometry (ARM) parameters analyzed included: Anal canal pressures, presence of rectoanal inhibitory reflex, external anal sphincter tone, and rectosigmoid compliance. Antroduodenal manometry was reviewed to assess neuromuscular function of the stomach and small intestine in response to drug challenges. Upper endoscopy and gastric emptying scans were reviewed, if available. Results: Mean age was 52.8 years (range 30 –77 years) with 27F:3M. Symptoms included: GERD in 31/32, dysphagia in 25/32, severe nausea/vomiting in 25/32, abdominal pain in 29/32 patients, abdominal bloating and distention in 25/32 patients, constipation in 16/32, and fecal incontinence in 14/32 patients. Mean LES pressure was 14.7 mm Hg; LES relaxation with water was complete in 10 patients and incomplete in 10. At 5 cm above LES, mean amplitude of contraction was 24.9 mm Hg. Anorectal manometry in 12 patients showed mean anal canal pressure of 31.4 mm Hg, relative EAS squeeze pressure of 40.4 mm Hg, average compliance of 3.62 ml/mm Hg and RAIR present in 6/12 patients. Small bowel motility in 5 patients demonstrated a reduced amplitude of contraction in the small intestine in 3 patients (normal in 2 patients). In 10 patients who underwent both EMS and ARM, low esophageal body contractile amplitudes were associated with low anal canal pressures. Conclusions: Symptoms of dysphagia and GERD were associated with low amplitude of contractions in the esophageal body, and fecal incontinence was associated with low anal canal pressures. Patients who had reduced esophageal body amplitudes were also likely to have reduced anal canal pressures. EMS findings did not correlate with small bowel manometric findings. Thus in scleroderma patients with complaints of both dysphagia and incontinence, the finding of low smooth muscle tone in the esophagus is likely to predict low anal canal pressures.

Clinical manifestations of scleroderma.

Scleroderma is a connective tissue disease of unknown etiology. Its most characteristic feature is thickening of the skin due to increased collagen deposition. However, the disease may involve multiple other organ systems. Two broad categories of scleroderma have been defined: localized and systemic. Although all forms of scleroderma are rare, localized scleroderma occurs more frequently than systemic sclerosis and has a more favorable prognosis. Several types of localized scleroderma exist. Morphea is characterized by the presence of one or more patches of hard, ivory-colored skin lesions. They begin with erythema and progress to nonpitting edema before becoming sclerotic. The margins of active lesions often have a violaceous hue. Underlying muscle fibrosis and atrophy may occur.