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Raynaud's disease and phenomenon [keywords]
- Case of lepromatous leprosy misdiagnosed as systemic sclerosis. [JOURNAL ARTICLE]
- J Dermatol 2014 Jan 31.
Hansen's disease (HD) is a chronic granulomatous infectious disease caused by Mycobacterium leprae. The worldwide prevalence rate of HD has decreased gradually over the years. The clinical manifestations of HD are extensive, with involvement of the skin and various organs, and these can resemble those of many rheumatic diseases. Our patient initially presented with gradual sclerotic skin change and slight sclerodactyly with Raynaud's phenomenon, which is frequently observed in systemic sclerosis. However, a skin biopsy with acid-fast stain later confirmed lepromatous leprosy. We report this case to emphasize the role of dermatologists for applying a systematic approach to the skin lesions of HD, which has become difficult to detect because of its rapidly declining prevalence rate.
- Cutaneous manifestations of mixed connective tissue disease: study from a tertiary care hospital in eastern India. [Journal Article]
- Indian J Dermatol 2014 Jan; 59(1):35-40.
Mixed connective tissue disorder is an uncommon disease. Some scientists are reluctant to recognize it as a separate entity. Some others have defined this ailment. Cutaneous features of this condition are unique. Researchers from India have described these features to relate to those described in the studies from other parts of the globe.This study aims to delineate the skin manifestations of clearly defined mixed connective tissue disease (MCTD) patients, to compare them with those established as overlap syndrome, and to relate them with studies from other parts of the globe.Successive patients who fulfilled the specific criteria for MCTD presenting in the skin outpatient department of a tertiary care hospital in eastern India were clinically examined from 2009 for 3 years.The number of participants was 23 and the dermatological features of these were compared with 22 patients with overlap syndrome. The antibody to uridine-rich U1 ribonucleoprotein was measured for all patients.SPSS (Version 17) and MedCalc (Version 11.6).THE MALE: Female ratio among the MCTD patients was 1:6.67 and that of the overlap syndrome was 1:10. Twenty patients of the MCTD group presented with synovitis as against only seven in the overlap group. Raynaud's phenomenon was present in some of the subjects. Puffy fingers were rare in our study. Facial numbness was reported by four of those suffering from MCTD. Antinuclear antibody (ANA) was essentially of a speckled pattern in this disease.Cutaneous indicators of MCTD are distinct from overlap syndrome. Knowledge of these manifestations prevalent in a region may lead to early diagnosis of the disease.
- The diagnosis and classification of mixed connective tissue disease. [JOURNAL ARTICLE]
- J Autoimmun 2014 Jan 21.
The term "mixed connective tissue disease" (MCTD) concerns a systemic autoimmune disease typified by overlapping features between two or more systemic autoimmune diseases and the presence of antibodies against the U1 small nuclear ribonucleoprotein autoantigen (U1snRNP). Since the first description of this condition in 1972, the understanding of clinical manifestations and long-term outcome of MCTD have significantly advanced. Polyarthritis, Raynaud's phenomenon, puffy fingers, lung involvement and esophageal dysmotility are the most frequently reported symptoms among the different cohorts during the course of the disease. Moreover, in recent years a growing interest has been focused on severe organ involvement such as pulmonary arterial hypertension and interstitial lung disease which can accrue during the long-term follow-up and can still significantly influence disease prognosis. Over the last years, significant advances have been made also in disease pathogenesis understanding and a central pathogenetic role of anti-U1RNP autoantibodies has clearly emerged. Although controversies on disease definition and classification still persist, MCTD identifies a group of patients in whom increased surveillance for specific manifestations and prognostic stratification became mandatory to improve patient's outcomes.
- Diagnostic criteria of systemic sclerosis. [JOURNAL ARTICLE]
- J Autoimmun 2014 Jan 21.
Systemic sclerosis (SSc) is a multisystem disease characterized by vascular abnormalities, immune system activation manifested by SSc-specific autoantibodies and disturbances in fibroblast function. The clinical manifestations are highly heterogeneous and commonly include skin thickening, Raynaud's phenomenon, digital ulcers, gastroesophageal reflux disease, interstitial lung disease and cardiac diastolic dysfunction. The diagnosis of SSc in a patient with typical end-organ disease is relatively straight-forward, but is unsatisfactory because it implies that the diagnosis is delayed until irreversible tissue damage is present. Diagnostic criteria are generally designed to facilitate the clinical process and to allow early institution of therapy to relieve symptoms and possibly prevent irreversible damage. Several attempts at defining diagnostic criteria for SSc have been made in the past. Raynaud's phenomenon, SSc-specific autoantibodies and nailfold capillary abnormalities are among the most promising items likely to be retained in a final set of diagnostic criteria. The EULAR Scleroderma Trial and Research group (EUSTAR) is currently in the process of prospectively validating a set of diagnostic criteria for the very early diagnosis of SSc and results are expected in 2015.
- Fat Grafting to the Hand in Patients with Raynaud's Phenomenon A Novel Therapeutic Modality. [JOURNAL ARTICLE]
- Plast Reconstr Surg 2014 Jan 17.
Raynaud's phenomenon (RP) causes progressively decreasing blood flow to the extremities, resulting from an imbalance between vasoconstriction and vasodilation. This ultimately leads to tissue ischemia, fibrosis, scarring, contractures, ulcerations, and even autoamputations in severe cases. Multiple treatment options have been attempted ranging from biofeedback, phosphodiesterase inhibitors, calcium channel inhibitors, botulinum toxin injection, or surgical sympathectomy. Given the observed skin improvements following fat injection to fibrotic tissues such as radiated breast skin, we propose fat grafting to the hands and feet as a method to delay progression of the disease.We adapt a previously described method of cosmetic rejuvenation of the hand by means of fat grafting. Indications included symptomatic RP with failure of previous management. Fat is harvested from abdominal depots. Approximately 30 ml of decanted fat is injected via blunt cannulae into the affected extremity, with the following distribution: 10-15 ml in dorsum of the hand; 2-3 ml in the snuff box; 1-2 ml in each dorsal webspace; 3-4 ml along the superficial palmar arch; 1-2 ml in the volar webspaces 2-4; and 2-3 ml in the first webspace Patients underwent pre-operative and post-operative laser speckle imaging study to assess changes in perfusion.A total of 13 patients were treated (21 hands). Twelve patients had undergone prior botulinum toxin injection, and eleven patients had prior sympathectomies. Findings included reduced pain (average reduction of 6.86/10 to 2.38/10), fewer cold attacks, improved skin and soft tissue texture, decrease in ulcerations, and patient-reported improved function. Three patients had no change in clinical findings. Increased blood flow per laser speckle imaging was noted in five of eleven hands tested. Six patients had decreased readings on laser imaging. None of the laser speckle imaging changes were statistically significant and they did not correlate clinically. There were no major complications.Preliminary results of fat grafting to the hands of patients with RP revealed improved symptomatology with suggestive evidence of measurably increased perfusion in some cases. Fat grafting may benefit the management of this patient population.Level of evidence - IV.
- Idiopathic inflammatory myopathies and the anti-synthetase syndrome: A comprehensive review. [JOURNAL ARTICLE]
- Autoimmun Rev 2014 Jan 11.
Autoantibodies are a hallmark in the diagnosis of many systemic autoimmune rheumatic diseases (SARD) including idiopathic inflammatory myopathies (IIM). Based on their specificity, autoantibodies in IIM are grouped into myositis specific (MSA) and myositis associated autoantibodies (MAA). Among the MSA, autoantibodies against aminoacyl-tRNA synthetases (ARS) represent the most common antibodies and can be detected in 25-35% of patients. The presence of ARS and other autoantibodies has become a key feature for classification and diagnosis of IIM and is increasingly used to define clinically distinguishable IIM subsets. For example, anti-ARS autoantibodies are the key features of what has become known as anti-synthetase syndrome (aSS), characterized by multiple organ involvement, primarily interstitial lung disease, often accompanied by myositis, non-erosive arthritis, Raynaud's phenomenon, fever, and "mechanic's hands". Autoantibodies directed to eight different ARS have been described: Jo-1 (histidyl), PL-7 (threonyl), PL-12 (alanyl), OJ (isoleucyl), EJ (glycyl), KS (asparaginyl), Zo (phenylalanyl) and Ha (tyrosyl). Each anti-ARS antibody seems to define a distinctive clinical phenotype. Although several research methods and commercial tests are available, routine testing for anti-ARS autoantibodies (other than anti-Jo-1/histidyl-tRNA synthetase) is not widely available, sometimes leading to delays in diagnosis and poor disease outcomes.
- Raynaud's phenomenon: From molecular pathogenesis to therapy. [JOURNAL ARTICLE]
- Autoimmun Rev 2014 Jan 10.
Raynaud's phenomenon (RP) is a well defined clinical syndrome characterized by recurrent episodes of digital vasospasm triggered by exposure to physical/chemical or emotional stress. RP has been classified as primary or secondary, depending on whether it occurs as an isolated condition (pRP) or is associated to an underlying disease, mainly a connective tissue disease (CTD-RP). In both cases, it manifests with unique "triple" (pallor, cyanosis and erythema), or "double" color changes. pRP is usually a benign condition, while sRP can evolve and be complicated by acral digital ulcers and gangrene, which may require surgical treatment. The pathogenesis of RP has not yet been entirely clarified, nor is it known whether autoantibodies have a role in RP. Even so, recent advances in our understanding of the pathophysiology have highlighted novel potential therapeutic targets. The aim of this review is to discuss the etiology, epidemiology, risk factors, clinical manifestations, recently disclosed pathogenic mechanisms underlying RP and their correlation with the available therapeutic options, focusing primarily on pRP and CTD-RP.
- Coexistence of sarcoidosis and systemic sclerosis. [Journal Article]
- Case Rep Rheumatol 2013.:684216.
Sarcoidosis is a multisystem granulomatous disease characterized by hilar lymphadenopathy, involvement of internal organs, and diverse skin lesions. Systemic sclerosis is an autoimmune disease characterized by skin hardening and different internal organ fibrosis, including vascular abnormality. Immune response associated with Th-2 has been shown in the early and active stage of the disease. In this paper, we report coexistence of systemic sclerosis with sarcoidosis in a female patient presenting with granulomatous dermatitis, interstitial lung disease, and Raynaud's phenomenon complaints.
- Antisynthetase syndrome: two cases presenting orofacial manifestations. [Journal Article]
- Br J Oral Maxillofac Surg 2014 Mar; 52(3):285-7.
Antisynthetase syndrome is a rare autoimmune disease that is characterised by inflammatory myositis, and interstitial lung disease or chronic arthropathy, or both. To the best of our knowledge, orofacial manifestations have not previously been reported. We present 2 patients with orofacial disease: one with aphthous-like oral ulceration and the other with hyposalivation.
- Mixed connective tissue disease presenting with progressive scleroderma symptoms in a 10-year-old girl. [Journal Article]
- Postepy Dermatol Alergol 2013 Oct; 30(5):329-36.
Mixed connective tissue disease (MCTD) is a systemic inflammatory disease affecting connective tissue with the underlying autoimmunological mechanism. The core of MCTD is an appearance of symptoms of several other inflammatory diseases of connective tissue - systemic lupus erythematosus, systemic scleroderma, poly- or dermatomyositis, rheumatoid arthritis at the same time, accompanied by a high level of anti-ribonucleoprotein antibodies (anti-U1RNP). The disease was described more than 40 years ago by Sharp et al. During recent years, many efforts to better understand clinical and serological features of MCTD have been made. Diagnosis of MCTD can be difficult. Obligatory international diagnostic criteria are required to be fulfilled. Several versions of such criteria have been proposed, but the most widely used one was described by Kasukawa. There is no consensus about treatment - a choice of drugs depends on symptoms. We present a case of a 10-year-old girl with sclerodactyly and trophic damages of fingers accompanied by symptoms of Raynaud's phenomenon. After an almost 2-year course of the disease, a diagnosis of MCTD has been established.