Cutaneous Sclerosis Research Articles

Primary FIP1L1-PDGFR Positive Hypereosinophilic Syndrome with Unusual Rheumatic Onset

AbstractIntroduction.Hypereosinophilia (HE) is defined as an absolute eosinophil count >1.5 x 109/L in the peripheral blood on two examinations separated in time by at least one monthand/orpathologic confirmation of tissue HE. A hypereosinophilic syndrome (HES) is defined by the association of HE with eosinophil-mediated organ damage and/or dysfunction if other potential causes of them have been excluded.Case report.We report a case of a 52-year-old woman admitted to Rheumatology Department for diffuse, highly intense (10/10) myalgia, associated with paravertebral, upper and lower limbs muscular edema and stiffness, having the onset of symptoms for about 4 months. During rheumatological evaluation, the patient developed posterior cervical diffuse pain with brachial irradiation associated with severe functional impotence reason for which it was indicated MRI of cervical spine. The blood count showed leucocytosis with hypereosinophilia. No evidence of Raynaud’s phenomenon, cutaneous and muscular sclerosis or visceral involvement. All muscular groups and deep fascia appeared affected on the whole-body MRI and the findings were suggestive for Shulman’s eosinophilic fasciitis or eosinophilic myopahty. All autoimmune, parasitic and allergic causes for myopathy were ruled out. Muscle tissue biopsy revealed high eosinophilic infiltrate predominantly in the deep muscular fascia, in the striated muscles and in the superficial dermis.The patient received methyl-prednisolone pulse-therapy with a low-maintenance dose of prednisone which showed clinical improvement and normalized peripheral blood eosinophilia. A hematologic evaluation revealed high percentage of bone marrow eosinophil count which harbored FIP1L1-PDGFR alpha mutation and data was suggestive for the diagnosis of myeloproliferative variant of HES syndrome along with Shulman’s eosinophilic fasciitis for which Imatinib treatment was indicated.Conclusion.The particularity of this case consists in the diagnosis of a myeloproliferative variant of HES with atypical presentation as a Shulman’s eosinophilic fasciitis, a rheumatological condition. Even though initial symptoms were suggestive for a myopathy, it was difficult to establish the positive diagnosis without any obvious paraclinical data. Further investigations such as MRI and muscle biopsy were conclusive for the diagnosis of Shulman’s eosinophilic fasciitis and clinical improvement was observed after corticosteroid treatment. Considering that after 4 months of evolution of the disease the patient did not present any atrophic lesions of the affected muscles and skin characteristic for Shulman’s eosinophilic fasciitis the patient was referred to Hematology Department with the diagnosis of HES. Advanced exams established the hematological condition as primary FIP1L1-PDGFR positive HES which could benefit from tyrosine-kinase inhibitors treatment (Imatinib) known to induce in this situation improved clinical and paraclinical status.

Progressive systemic sclerosis with multiple comorbidities in a 71-year-old female

Introduction: Progressive systemic sclerosis (PSS) is a connective tissue disorder with unknown etiology, characterized by increased collagen deposition leading to fibrosis, skin thickening and other pathological changes in organs. Females constitute at least two-thirds of all the cases. The disease commonly occurs in women aged 30-40 years. Other features of the disease include Raynaud’s phenomenon, telangiectasia, calcinosis, myositis, arthritis, tenosynovitis, renal failure, esophageal dysmotility, pulmonary fibrosis, and heart failure. Materials and Methods: A 71-year-old female was hospitalized with ischemic and cyanotic fingertips in the Department of Rheumatology, St. Marina University Hospital, Varna, Bulgaria. She complained of pain in both hip joints when walking, erythema in the region of the distal phalanges of the hands and feet with individual ulcerations on the fingertips. Raynaud’s phenomenon was positive. Other comorbidities that were included in her medical records were type two diabetes, hypertension, and past history of endometrial cancer. The physical exam revealed sclerodactyly, cutaneous sclerosis of hands and feet, and microstomia. Laboratory tests revealed high levels of very low-density lipoprotein (4.9) and high level of blood sugar (7.2). Immunology revealed high levels of antinuclear antibodies (+++), anti-centromere protein B (++), anti-Sjogren’s syndrome-A (Ro52) (+++). Results: The following medications were administered: methylprednisolone 40 mg intravenous, ranitidine 150 mg 2х1 per os, pulse therapy with cyclophosphamide amp 1000 mg in 500 mL saline, then followed by another bank of 500 mL saline, metoclopramide 10 mg - 1 ampoule intravenously, and heparin 2x500E intravenous. Conclusion: The occurrence of the disease in such an advanced age is unlikely, while the risk of diabetes and neoplasia increases exponentially with the age. The uniqueness of the case herein lies with its late presentation, which could easily be misinterpreted as a complication of her concomitant diseases.

Plaque-type Cutaneous Sclerosis: A Late Complication of Filler Injection?

Plaque-type Cutaneous Sclerosis: A Late Complication of Filler Injection?

Venting issues

IntroductionA 65-year-old woman with type 3 intestinal failure secondary to scleroderma of the gut (limited cutaneous sclerosis (centromere positive) and rheumatoid arthritis (anti-cyclic citrullinated peptide (CCP) and rheumatoid factor positive))...

Ablative fractional laser resurfacing for treatment of sclerosis and contractures in chronic graft-versus-host disease: A pilot study

To the Editor: Cutaneous sclerosis is a disabling complication of chronic graft-versus-host disease (cGVHD) that leads to joint contractures and reduced range of motion (ROM). Current therapies are limited by adverse effects and poor efficacy, and no systemic treatment successfully reverses cGVHD-induced sclerotic skin changes.1Dignan F.L. Amrolia P. Clark A. et al.Diagnosis and management of chronic graft-versus-host disease.Br J Haematol. 2012; 158: 46-61Crossref PubMed Scopus (126) Google Scholar There is an urgent need for therapies to address the debilitating effects of cutaneous sclerosis in cGVHD. The ablative fractional CO2 laser remodels collagen and reduces fibrosis. It has been used for treatment of scars and contractures secondary to linear morphea, burns, and traumatic injury, conditions resembling the sclerosis of cGVHD.2Kineston D. Kwan J.M. Uebelhoer N.S. Shumaker P.R. Use of a fractional ablative 10.6-mum carbon dioxide laser in the treatment of a morphea-related contracture.Arch Dermatol. 2011; 147: 1148-1150Crossref PubMed Scopus (39) Google Scholar, 3Ozog D.M. Liu A. Chaffins M.L. et al.Evaluation of clinical results, histological architecture, and collagen expression following treatment of mature burn scars with a fractional carbon dioxide laser.JAMA Dermatol. 2013; 149: 50-57Crossref PubMed Scopus (135) Google Scholar We evaluated the safety, tolerability, and efficacy of the ablative fractional CO2 laser for cGVHD-related sclerosis and joint contractures. Six patients with cGVHD-related sclerosis were enrolled prospectively and completed the study. Eligible patients had clinically severe, refractory sclerosis from longstanding cGVHD, with demonstrable ROM limitation and contractures across a joint amenable to laser therapy. After administration of topical anesthesia, patients had 3 monthly treatments of an approximately 10 × 6-cm area of skin at the target joint using the 10 600-nm fractional Ultrapulse CO2 laser (Ultrapulse Encore; Lumenis, Inc, Santa Clara, CA) in Deep FX mode (energy settings, 20-25 mJ; density, 5%-15%). Photographs, ROM measurements, and high-resolution ultrasonography were recorded at baseline, 1 week after each laser session, and 3 months after the final session. Punch biopsy and patient and provider assessments, including validated health and disability questionnaires, were performed at baseline and 3 months after the final session. The study was approved by the University of Pennsylvania institutional review board, and all patients provided written informed consent. Before enrollment, patients had received a mean of 5.5 systemic therapies for cGVHD-related sclerosis. Laser treatments were well tolerated, without infectious or other serious complications. ROM measurements, particularly the twisting motions of supination and pronation, improved in all patients (Table I). Immunohistochemical analysis of skin biopsy specimens showed decreased thickened collagen bundles, decreased intensity of collagen staining, and greater abundance of type III collagen in treated areas (Fig 1).3Ozog D.M. Liu A. Chaffins M.L. et al.Evaluation of clinical results, histological architecture, and collagen expression following treatment of mature burn scars with a fractional carbon dioxide laser.JAMA Dermatol. 2013; 149: 50-57Crossref PubMed Scopus (135) Google Scholar Dermal echogenicity measured via high-resolution ultrasonography increased after the laser treatment, suggestive of collagen remodeling. Less haphazard organization of collagen is postulated to produce increased echogenicity.4Naouri M. Atlan M. Perrodeau E. et al.High-resolution ultrasound imaging to demonstrate and predict efficacy of carbon dioxide fractional resurfacing laser treatment.Dermatol Surg. 2011; 37: 596-603Crossref PubMed Scopus (30) Google Scholar Patient photographs and disability assessments similarly showed evidence of improvement.Table IChange in degrees of range of motion from baseline to 3 months after the final laser treatmentRange of motionPatient 1 (right wrist)Patient 2 (left foot)Patient 3 (right elbow)Patient 4 (left elbow)Patient 5 (left elbow)Patient 6 (right wrist)Wrist extension−1————+0.5Wrist flexion+25————+5Forearm pronation+11—+28+14.5+19+66Forearm supination+14—+19.5+14.5+2+2.5Elbow extension——+16.5+10—Ankle dorsiflexion—+21————Ankle plantarflexion—+4.5————Ankle inversion—+21————Ankle eversion—+6.5———— Open table in a new tab The results of this pilot study highlight the safety, tolerability, and potential efficacy of the fractional ablative CO2 laser for treatment of cGVHD-related sclerosis and joint contracture, resulting in small but measurable histologic, radiologic, and functional improvements. Small sample size, small treatment area, and imperfect objective response measures are limitations. Longer follow-up, larger treatment areas, use of other laser settings, and laser-assisted delivery of topical medications should be evaluated in future studies.5Waibel J.S. Wulkan A.J. Shumaker P.R. Treatment of hypertrophic scars using laser and laser assisted corticosteroid delivery.Lasers Surg Med. 2013; 45: 135-140Crossref PubMed Scopus (173) Google Scholar In summary, the fractional ablative CO2 laser was safe and well tolerated in a small group of medically complex patients with treatment-refractory cGVHD. Treatment of a target area of sclerotic skin appeared to induce collagen remodeling, with resulting modest improvement in ROM and joint function. These findings suggest that the fractional ablative CO2 laser may be an effective novel therapy for disabling sclerotic joint contractures in some patients with cGVHD. We are grateful for the support and collaboration of the Departments of Dermatology, Dermatopathology, Radiology, Physical Therapy, and Hematology/Oncology at the University of Pennsylvania, as well as for the patients who volunteered for this study.

Pulmonary hypertension on systemic sclerosis-lupus erythematosus overlap syndrome

PurposeThere are authentic observations of combination of systemic lupus erythematosus (SLE) with systemic sclerosis (SS) and with polymyositis defined as overlap syndromes. The prevalence of pulmonary hypertension is unknown in SS-SLE overlap syndrome because of its rarity. The aim of our study was to precise clinical, paraclinical and evolutive features of pulmonary hypertension in patients with systemic sclerosis-systemic lupus erythematosus (SS-SLE) overlap syndrome. MethodsSixteen cases of SS-SLE overlap syndrome were retrospectively studied in a period of 16 years (2000–2015). SS-SLE overlap syndrome was diagnosed in the presence of at least 4 criteria of the American College of Rheumatology (ACR) for the diagnosis of SLE and a major criterion or 2 minor criteria of ACR of SS classification. Pulmonary arterial pressure (PAP) was estimated with doppler echocardiography. Pulmonary hypertension (PAH) was defined by a PAP superior than 30mmHg. We distributed groups according to the existence (Group 1) or not (Group 2) of a PAH. Epidemiological, clinical and evolutive features were compared between the two groups with bilateral fisher test (P significant if inferior at 0.05) ResultsSixteen cases of female patients with SS-SLE overlap syndrome with a middle-age of 39 years, extreme (29–58 years) were studied. PAH complicated the evolution of SS-SLE overlap syndrome in six cases with a middle-age of 41 years. Ten patients of the group 2 had an average age of 40 years. The average age of the beginning of the disease was 28 years in the group 1 and 31 years in the group 2. SS preceded SLE in 6 among 16 cases (Group 1: 2/6, Group 2: 4/10). SS was revealed most frequently by Raynauw's Syndrome in both groups (Group 1: 4/6, Group 2: 7/10). Cutaneous and articular involvements were the most frequent observed manifestations of SLE (Group 1: 5/6, Group 2: 6/10). In the group 1, the PAH was discovered approximatively11 years after the beginning of the SS-SLE overlap syndrome. The average PAP was 52mmHg, extreme (32–80mmHg). A right cardiac insufficiency complicated the evolution of the PAH in 3 cases. The PAH was primitive in 3 cases. There was no significant difference concerning the SS-SLE overlap syndrome onset disease symptoms, the frequency of lung involvement and esophageal, neurological, articular and trophic manifestations. PAH was not associated with lupic proliferative renal disease, neither with cutaneous proximal sclerosis nor with anti-Scl70 positivity. Patients were treated with vasodilator treatment in eleven cases: prostacyclin derivates in five cases and endothelin receptor antagonist in six cases. Two patients received corticosteroids and boli of cyclophosphamide for renal involvement and neurologic involvement in each case. Stabilization of PAP was observed in these two cases. Mean follow-up disease was 67 months, extreme (4–124 months) Cutaneous sclerosis evolution was not significantly different between both groups. Global cardiac insufficiency secondary to PAH caused death in one case. ConclusionAccording to the results of our study, SS-SLE overlap syndrome complicated with PAH seems to be associated more frequently with limited and distal cutaneous manifestations. Patients that have developed lupus nephropathy and/or had positive anti-Scl70 seem to be protected from appearance of PAH during the SS-SLE overlap syndrome.

Systemic Scleroderma at University Teaching Hospital (UTH) of Cocody (Abidjan—Cote d’Ivoire): A 19 Cases Report

Objective: The aim of this study was to describe the epidemiological, clinical and therapeutic features of systemic scleroderma at Cocody UTH. Methodology: We conducted a retrospective and descriptive study over a period of 10 years (September 15, 2008 to April 15, 2019) on the files of patients hospitalized for systemic scleroderma in the rheumatology unit of the UTH of Cocody. We used the classification criteria of the American Society of Rheumatology (1980) to retain the diagnosis. Results: Nineteen patients’ files had been collected, representing a hospital frequency of 0.32%. The average age was 37.25 ± 13.82 years old. There were 15 women and 4 men. The average consultation time was 26.44 months. The mode of revelation of the disease was mostly cutaneous and articular. All patients had cutaneous sclerosis (average Rodnan score = 27.63/11.61 (min = 4, max = 49).) Scleroderma was diffuse in 70.59% of cases; a Raynaud’s phenomenon was seen in 47.37%. The main clinical manifestations were: cutaneous (100%), articular (89.47%), pulmonary (57.89%) and digestive (63.16%). No renal damage was found. Pulmonary fibrosis (5 cases), pulmonary arterial hypertension (3 cases) and pericardial effusion (2 cases) were sometimes founded in explorations. The positivity of antinuclear antibodies (ANA) was seen in 72% of patients and anti scl70 antibodies in 42.85%. The treatment included corticosteroids and immunosuppressants, respectively used in 84.2% and 63.16% of cases. The outcome was marked by 5 cases of death attributed to respiratory distress. Conclusion: Systemic scleroderma seems to be a very rare condition in Ivorian rheumatology milieu. The main systemic manifestations were digestive and pulmonary. Treatment was very often symptomatic sometimes associated with D-penicillamine.

Cardiac involvement in systemic sclerosis: Multicentric study in Tunisia

Systemic sclerosis (SSc) is a systemic autoimmune disease that is characterised by endothelial dysfunction resulting in a small-vessel vasculopathy, fibroblast dysfunction, and immunological abnormalities. Cardiac manifestations of SSc can affect all structures of the heart; the incidence of cardiac disease is estimated to be about 7% in localized lcSSc and 21% in diffuse cutaneous sclerosis (dcSSc) patients. We investigated the prevalence and incidence (at time of diagnosis and during follow-up) of various cardiovascular diseases in a large multicenter study cohort in Tunisian patients with SSc throughout 8 Departments of Internal Medicine. One hundred and eight cases of SSc were recorded according to American College of Rheumatology criteria, during a 15-years period. Prevalence of cardiovascular diseases at the time of the SSc diagnosis and incidences during follow-up was assessed using Echocardiography and Electrocardiography. They were 93 women and 15 men with an average age at SSc onset of approximately 46.9 years. Only 18 patients had limited cutaneous SSc. Cardiac manifestations were observed in 29 patients (27%) pericardial effusion in 9 patients (8.3%),myocardial infarction n = 4 (3.7%), pulmonary arterial hypertension n = 15 (13.8%),valvulopathy n = 7 (6.4%), cardiac conduction diseases n = 6 (5.5%), arrhythmias n = 3 (2.7%), cardiomyopathy n = 9 (8.3%). Patients with limited SSc had similar cardiac abnormalities to patients with diffuse SSc. The prevalence of cardiac involvement in SSc is variable and difficult to determine because of the diversity of cardiac manifestations and the type of diagnostic tools applied. In our study, we confirm the increased risk of several SSc cardiac complications. Screening for subclinical cardiac involvement with modern, sensitive tools provides an opportunity for earlier detection and treatment.

Favorable impact of extracorporeal photopheresis in acute and chronic graft versus host disease: Prospective single-center study.

Graft vs host disease (GVHD) is the most severe complication of allogeneic hematopoietic cell transplantation. Conventional immunosuppressive therapy increases morbidity and mortality without improving survival. Extracorporeal photopheresis (ECP) has been introduced as an alternative treatment in steroid-dependent and steroid-refractory disease. We studied the safety and efficacy of ECP as a second- or third-line treatment in GVHD. ECP was administered in 21 patients with grade III-IV acute GVHD and 88 patients with extensive chronic GVHD, without ECP-related adverse events. Eight patients receiving four or less ECP sessions were not further analyzed. The majority of acute GVHD patients (84%) presented partial (15) or complete (1) response to ECP. Immunosuppression was reduced in 10 of 19 patients and ceased in 1 of 19 patients. One-year cumulative incidence (CI) of transplant-related mortality (TRM) (17.6%) was associated with the lack of response to ECP and steroid refractoriness. With a follow-up of 17.5 (1.8-58.3) months, 1-year overall survival (OS) (52.5%) was independently associated with a higher number of ECP sessions. Regarding chronic GVHD, complete response was achieved in 35 patients, whereas partial response in 25 patients, leading to an overall response rate of 73%. Cutaneous sclerosis manifestations were associated with higher response rates. With a follow-up of 68.1 (5.4-283.1) months, 5-year CI of TRM (24.1%) was associated only with a number of ECP sessions. The 5-year OS (64.5%) was independently associated with number of ECP sessions and cutaneous manifestations. Our findings suggest that ECP is safe and effective for GVHD and should be considered early in the course of GVHD, before irreversible end-organ damage has been established.

Systemic Sclerosis at an Intensive Care Unit: A Case Series and Literature Review.

Systemic sclerosis (SSc) is a multisystemic autoimmune disease. Few studies have focused on the outcomes of SSC patients who require intensive care unit (ICU) admission, largely due to the absence of protocols for the optimal management of this disease during an ICU stay. This study aimed to describe the outcomes of a series of SSc patients admitted to the ICU at a single center in Cali, Colombia. Case series of SSc patients admitted to the ICU were reviewed. The main outcome was ICU mortality. Statistical analysis was performed with measures of central tendency and proportions. All the patients (n = 14) were female and either middle-aged or elderly; 9 (64%) were diagnosed with diffuse cutaneous sclerosis, and the remaining 5 patients with limited cutaneous sclerosis. Some were readmitted; therefore, the total number of ICU admissions was 21. The principal causes of ICU admissions were non-SSc-related causes (n = 15 [71.4%]). The respiratory system was the most involved on ICU admissions. The ICU mortality rate was 43% (n = 6). The severity of the disease at ICU admission and comorbidity are independently associated with ICU-related mortality. Furthermore, the optimal management of SSc patients includes accurate detection of SSc-associated organ involvement. More studies involving this category of patients are needed to establish the best effective protocols.

611 A novel method of objectively quantifying cutaneous sclerosis

611 A novel method of objectively quantifying cutaneous sclerosis

Systemic sclerosis: Current concepts of skin and systemic manifestations

Systemic sclerosis is an uncommon autoimmune connective tissue disease with multiorgan system involvement and significant associated morbidity and mortality. Cutaneous signs and clinical manifestations are of particular importance, as they may be recognized before systemic manifestations, allowing earlier risk stratification into the limited and diffuse cutaneous subtypes, as well as earlier initiation of treatment. Important cutaneous manifestations include Raynaud’s phenomenon, digital ulcers, cutaneous sclerosis, calcinosis cutis, telangiectasias, pruritus, and dyspigmentation. Despite investigation of a wide variety of treatments, no FDA-approved pharmacologic therapies exist for systemic sclerosis, and data from high-quality studies are limited. In the following review, we will discuss skin-directed therapies. Although there is evidence to support specific treatments for Raynaud’s phenomenon, digital ulcers, and cutaneous sclerosis, there are limited rigorous studies evaluating the treatment of other cutaneous signs and clinical manifestations. Additional randomized-controlled trials and large observational studies are necessary to develop future evidence-based treatment options.

Lower-limb Ulcers in Systemic Sclerosis: A Multicentre Retrospective Case-control Study.

Lower-limb ulcers in systemic sclerosis patients are rarely reported. The aim of this study was to describe the main causes and outcomes of lower-limb ulcers in systemic sclerosis patients and to assess factors associated with ischaemic causes (arterial disease and/or microvascular impairment). A retrospective, multicentre, case-control study was conducted in 2013 and 2014, including 45 systemic sclerosis patients presenting lower-limb ulcers between 2008 and 2013. The estimated prevalence of lower-limb ulcers among systemic sclerosis patients was 12.8%. Ulcers were related to venous insufficiency in 22 cases (49%), ischaemic causes in 21 (47%) and other causes in 2 (4%). Complete healing was observed in 60% of cases in a mean time of 10.3 months; 59% relapsed during a mean follow-up of 22 months. Ischaemic lower-limb ulcer outcomes were poor, with a 28.6% amputation rate. Logistic-regression multivariate analyses between ischaemic lower-limb ulcer cases and matched systemic sclerosis-controls identified past or concomitant digital ulcer and cutaneous sclerosis of the feet as independent risk factors associated with ischaemic lower-limb ulcers.

First clinical symptom as a prognostic factor in systemic sclerosis: results of a retrospective nationwide cohort study.

The objective of the study is to determine the importance of the mode of onset as prognostic factor in systemic sclerosis (SSc). Data were collected from the Spanish Scleroderma Registry (RESCLE), a nationwide retrospective multicenter database created in 2006. As first symptom, we included Raynaud's phenomenon (RP), cutaneous sclerosis, arthralgia/arthritis, puffy hands, interstitial lung disease (ILD), pulmonary arterial hypertension (PAH), and digestive hypomotility. A total of 1625 patients were recruited. One thousand three hundred forty-two patients (83%) presented with RP as first symptom and 283 patients (17%) did not. Survival from first symptom in those patients with RP mode of onset was higher at any time than those with onset as non-Raynaud's phenomenon: 97 vs. 90% at 5years, 93 vs. 82% at 10years, 83 vs. 62% at 20years, and 71 vs. 50% at 30years (p < 0.001). In multivariate analysis, factors related to mortality were older age at onset, male gender, dcSSc subset, ILD, PAH, scleroderma renal crisis (SRC), heart involvement, and the mode of onset with non-Raynaud's phenomenon, especially in the form of puffy hands or pulmonary involvement. The mode of onset should be considered an independent prognostic factor in systemic sclerosis and, in particular, patients who initially present with non-Raynaud's phenomenon may be considered of poor prognosis.

Scleroderma in hospital settings in Lomé: 50cases.

The aim of this study was to document the epidemiological and clinical profile, treatment used, and outcome of patients with scleroderma in hospital settings in Lomé. This descriptive study examined the records of all patients seen as outpatients or admitted for scleroderma in hospital dermatology and rheumatology departments in Lomé during the 20-year period of 1993-2012. During the study period, 50 (0.04%) of the 121,021 patients seen in these departments had scleroderma. There were 29 cases of localized scleroderma and 21 systemic cases, predominantly women (sex-ratio=0.2). The patients' mean age was 36 years. All patients with systemic scleroderma had speckled achromia (100%), and most (90.48%) had cutaneous sclerosis. After a mean follow-up period of 43.5 days, 71.43% of the patients had been lost to follow-up. All of the patients with localized scleroderma had cutaneous sclerosis, and the rate of loss to follow-up (after a mean of 17 days) was 96.55%. The results of this study confirm the extreme rarity of scleroderma in the teaching hospitals in Lomé and a clear female predominance. It points out the difficulty of management, which both influences and is aggravated by the high rate of loss to follow-up.

Cutaneous Manifestations of Scleroderma and Scleroderma-Like Disorders: a Comprehensive Review

Scleroderma refers to an autoimmune connective tissue fibrosing disease, including three different subsets: localized scleroderma, limited cutaneous systemic sclerosis, and diffuse cutaneous systemic sclerosis with divergent patterns of organ involvement, autoantibody profiles, management, and prognostic implications. Although systemic sclerosis is considered the disease prototype that causes cutaneous sclerosis, there are many other conditions that can mimic and be confused with SSc. They can be classified into immune-mediated/inflammatory, immune-mediated/inflammatory with abnormal deposit (mucinoses), genetic, drug-induced and toxic, metabolic, panniculitis/vascular, and (para)neoplastic disorders according to clinico-pathological and pathogenetic correlations. This article reviews the clinical presentation with emphasis on cutaneous disease, etiopathogenesis, diagnosis, and treatment options available for the different forms of scleroderma firstly and for scleroderma-like disorders, including scleromyxedema, scleredema, nephrogenic systemic fibrosis, eosinophilic fasciitis, chronic graft-versus-host disease, porphyria cutanea tarda, diabetic stiff-hand syndrome (diabetic cheiroartropathy), and other minor forms. This latter group of conditions, termed also scleroderma mimics, sclerodermiform diseases, or pseudosclerodermas, shares the common thread of skin thickening but presents with distinct cutaneous manifestations, skin histology, and systemic implications or disease associations, differentiating each entity from the others and from scleroderma. The lack of Raynaud's phenomenon, capillaroscopic abnormalities, or scleroderma-specific autoantibodies is also important diagnostic clues. As cutaneous involvement is the earliest, most frequent and characteristic manifestation of scleroderma and sclerodermoid disorders, dermatologists are often the first-line doctors who must be able to promptly recognize skin symptoms to provide the affected patient a correct diagnosis and appropriate management.

Skin diseases with scleroderma-like cutaneous manifestations

Systemic sclerosis is usually considered to be the main cause of cutaneous sclerosis, but many other diseases can also manifest as cutaneous sclerosis and tissue fibrosis in clinic, which are easy to be confused with systemic sclerosis. This kind of diseases include a wide spectrum of heterogeneous diseases, ranging from a benign disease with a localized cutaneous involvement, to a widespread systemic, life-threatening disease. This review summarizes several main kinds of cutaneous fibrosing disorders, such as nephrogenic fibrosing dermopathy, scleromyxedema, POEMS syndrome, myeloma, Buschke scleroderma, eosinophilic fasciitis, eosinophilia-myalgia syndrome, carcinoid syndrome, porphyria cutanea tarda, chronic graft-versus host disease, environmentally triggered scleroderma-like disorders. Distinguishing the pathogenesis, clinical and pathological manifestations and therapeutic methods between this group of diseases will improve the understanding of these diseases, and has great clinical significance for their correct diagnosis and proper treatment. Key words: Scleroderma, systemic; Patient simulation; Pathology; Diagnosis; Therapeutic uses

Limited Cutaneous Scleroderma-Related Pulmonary Arterial Hypertension — a Case Report

Abstract Background: Pulmonary hypertension (PH), defined by mean pulmonary arterial pressure (PAPm) ≥25 mm Hg, can lead to increasing pulmonary vascular resistance, which eventually results in right ventricle failure. Scleroderma, as an autoimmune connective tissue disease, is associated with PH as a sub-group according to the 2015 ESC/ERS PH classification. Pulmonary arterial hypertension (PAH) associated with scleroderma (SSc-PAH) can often result in poor prognosis with increased mortality. Early diagnosis and specific treatment of PH can significantly improve the prognosis of these patients. Case report: We present the case of a 50 year-old male, with no relevant family history, with a 2-year history of echocardiography-based diagnosis of PH (PAPm 78 mmHg). Physical examination revealed limited hand and forearm areas of non-folding thick skin, vital signs in the normal range and peripheral oxygen saturation of 96%. Severity and risk assessment were performed based on clinical and imaging tests, and hemodynamics. 12-lead rest ECG revealed sinus tachycardia and right bundle branch block, the six-minute walk test confirmed limited exertion capacity, Borg scale 9. Transthoracic echocardiography pointed to dilated right heart cavities and moderate pericardial effusion. Right heart catheterization confirmed the PAH (PAPm: 36 mmHg), and pulmonary CT angiography excluded massive pulmonary embolism. Rheumatologic examination and immune serology identified a scleroderma subset, limited cutaneous sclerosis form (lcSSc) with early onset PH. Combined specific PH drug therapy was initiated, followed by clinical and functional improvement in clinical status, prognosis and life quality. Conclusions: In clinical group 1 of PH, the subgroup etiology of PAH associated with connective tissue disease (1.4.1) often goes undiagnosed, mainly due to the diminish of lung involvement symptoms in early CTD stages. Multidisciplinary approach is essential in order to refine the diagnosis and set out the treatment algorithm.

Atteinte macrovasculaire de la sclérodermie systémique : étude descriptive prospective de 20 patients en échodoppler

Systemic sclerosis is characterized by cutaneous sclerosis, vascular disease and immunological dysfunction. The prevalence of macrovascular disease remains controversial. This was a descriptive prospective single-center study conducted in the vascular medicine department of the University Hospital of Bordeaux from July 1 to September 1, 2015. All inpatients followed for systemic scleroderma were included. Each patient had a Doppler ultrasound of the supra-aortic, upper and lower limb, and digital arteries as well as the aorta. The main objective of the study was to describe the presence and location of arterial lesions in patients with systemic sclerosis. Of the twenty patients included, there were 13women and 7men; mean age was 58±16years. Patients exhibited wall thickening (n=16, 80%), calcified plaques (n=10, 50%), hemodynamically significant stenoses (n=3, 15%) and arterial occlusions (n=12, 60%). Ankle brachial pressure index (ABPI) was 0.98±0.16on the right and 0.99±0.21on the left. Two patients had ABPI<0.8. The mean brachial systolic blood pressure was 113±14mmHg. Arterial mapping (860arterial sites) found wall thickening (n=93arteries, 10%), calcified plaques (n=47, 5%), hemodynamically significant stenoses (n=7) and occlusions (n=22). Arterial occlusions were located in the ulnar arteries (n=2), the digital arteries (n=18), the posterior tibial artery (n=1) and the dorsalis pedis artery (n=1). The data of our study correlate with macrovascular disease described in the literature. This finding raises two questions: how does this concept integrate with the severity of Raynaud's phenomenon and the risk of digital ulcers and changes in patients' capillaroscopic landscape during follow-up? What is the cause of these vascular anomalies, some of which are very different from what is observed in atherosclerosis?

Early Detection is Key: Is Handheld Spirometry the Answer?

risk factors for bronchiolitis obliterans (n 1⁄4 30) and cutaneous sclerosis (n 1⁄4 68) are also described. Collectively, these studies underscore the incidence of aGVHD in the burgeoning post-HCT population, identify risk factors, and further our understanding of these disease processes that drive morbidity and mortality in this population. Importantly, this work confirms that improving survival in this population requires improving the way we manage and treat GVHD.