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Journal of the European Academy of... Dec 2018Vitiligo is a disorder of the skin that causes depigmentation and asymptomatic macules whose exact cause is still unclear. Although its aetiology is not fully...
Vitiligo is a disorder of the skin that causes depigmentation and asymptomatic macules whose exact cause is still unclear. Although its aetiology is not fully elucidated, the main theory of its pathomechanism is that it is associated with the autoimmune process. There is few summarized information about the role of inflammatory mediators, as interleukins, in vitiligo, so our aim was to present a systematic review of the role of interleukins in vitiligo, focusing on interleukins. In this review, we included all studies assessing interleukin levels in vitiligo patients conducted up to June 2017. Quality assessment of these studies was performed using the Newcastle-Ottawa Scale (NOS). The interleukins mainly involved were IL-2, IL-4, IL-6, IL-10 and IL-17. The studies highlight the crucial role of IL-17 in the onset and progression of the disease, and its synergistic action with IL-2, IL-6 and IL-33. Dysregulated levels of the interleukins were also correlated with the stage of disease, the affected skin surface area, and indicated as the main factor for lymphocyte infiltration found in depigmented regions. These findings illustrate the growing need for new therapies targeting vitiligo and further research into the role of interleukins as an area of particular interest.
Topics: Humans; Interleukin-10; Interleukin-17; Interleukin-2; Interleukin-33; Interleukin-4; Interleukin-6; Interleukins; Vitiligo
PubMed: 29704266
DOI: 10.1111/jdv.15016 -
European Journal of Radiology Mar 2018Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple... (Review)
Review
BACKGROUND
Neurofibroblastoma (NF) or Von Recklinghausen disease, is an autosomal dominant disorder affecting one in 3000 individuals. Cardinal features of NF include multiple café-au-lait macules, benign neurofibromas, and iris hamartomas. Albeit less common, vascular lesions of medium and large-sized arteries and veins are a well-recognized complication, which can lead to fatal consequences such as rupture.
METHOD
A systematic review was conducted as per the Preferred Reporting Instructions for Systematic Reviews and Meta-analysis (PRISMA) guidelines utilizing PubMed, EMBASE, and Cochrane databases.
RESULTS
There were 59 articles identified involving 66 patients (mean age 44.3 ± 30 years), of which 89% had neurofibromatosis type 1. There were 63.6% of patients who presented with aneurysm rupture, 33.3% presented with intact symptomatic aneurysms, and 3.1% presented with intact asymptomatic aneurysms. Anatomically, 4.5% of patients suffered from intracranial aneurysms; 12.1% suffered from visceral artery aneurysms (including hepatic, superior mesenteric, gastroduodenal and renal arteries), and other patients suffered from aneurysms within the chest, abdomen, pelvis, upper limbs and neck. Amongst the various endovascular procedures, coiling was performed in 83.3% of cases. There were 12 covered stents employed in 10 patients (18.2%), of which 7 were balloon-expandable grafts; 2 were self-expandable graft; 3 were not mentioned. The rates of major and minor complications were 15% and 6% respectively, with 4 cases (6%) of perioperative death. On a mean follow-up of 15 months (range 1.5-72 months), two patients developed a distant vascular lesion from the treated lesion.
CONCLUSION
Endovascular management is safe and effective even in hemodynamically unstable neurofibroblastoma patients at all ages. Vascular tree screening should be conducted in clinically suspicious patients to prevent fatal aneurysmal complications. A formal meta-analysis could not be performed due to the lack of randomized controlled trials.
Topics: Adolescent; Adult; Aged; Aneurysm; Endovascular Procedures; Female; Humans; Male; Middle Aged; Neurofibromatosis 1; Treatment Outcome; Young Adult
PubMed: 29496081
DOI: 10.1016/j.ejrad.2017.12.014 -
Pediatric Neurology Jul 2016The first sign of neurofibromatosis type 1 (NF1) in a child is often the presence of multiple café-au-lait macules. Although previous studies reported that almost... (Review)
Review
BACKGROUND
The first sign of neurofibromatosis type 1 (NF1) in a child is often the presence of multiple café-au-lait macules. Although previous studies reported that almost individuals with multiple café-au-lait macules will eventually develop NF1 based on clinical criteria, recent studies and clinical observations suggest that a significant percentage of them do not have NF1.
METHODS
We conducted the first systematic review of the literature on the prevalence of definitive NF1 among patients referred for isolated café-au-lait macules, searching more precisely for the proportion of those patients who do not have NF1. Because we now know that the presence of café-au-lait macules and freckling might not distinguish between NF1 and other conditions such as Legius syndrome, definitive NF1 was defined as the presence of café-au-lait macules with or without freckling plus one of the following: Lisch nodules, neurofibroma, plexiform neurofibroma, bone dysplasia, optic pathway glioma, or familial history of NF1.
RESULTS
Six articles reported sufficient data to meet our inclusion criteria. Grouping all studies together, we found that 19.5% to 57.1% of all patients with isolated café-au-lait macules did not have a diagnosis of NF1 after follow-up or genetic testing.
CONCLUSION
A significant portion of the patients presenting with isolated café-au-lait macules at initial consultation might not have NF1. Genetic testing could help guide the follow-up of those patients, but further evidence is required to make recommendations.
Topics: Cafe-au-Lait Spots; Humans; Neurofibromatosis 1
PubMed: 27212418
DOI: 10.1016/j.pediatrneurol.2016.03.003 -
Journal of the American Academy of... Jul 2016IgG4-related disease (RD) is a recently described fibroinflammatory condition with both cutaneous and systemic manifestations. To our knowledge, the cutaneous... (Review)
Review
BACKGROUND
IgG4-related disease (RD) is a recently described fibroinflammatory condition with both cutaneous and systemic manifestations. To our knowledge, the cutaneous manifestations have not been well characterized or systematically investigated to date in the literature.
OBJECTIVE
We sought to describe the cutaneous manifestations of IgG4-RD to guide clinical practice, aid in the diagnosis of IgG4-RD, and contribute to the creation of robust cutaneous diagnostic criteria.
METHODS
A systematic search of peer-reviewed publications pertaining to cutaneous manifestations of IgG4-RD yielded 56 cases from 32 case reports and series. The clinical findings among the diagnostic categories were compared.
RESULTS
Forty cases of IgG4-RD with cutaneous disease were identified. Cutaneous head and neck involvement was significantly associated with a diagnosis of IgG4-RD (P = .02). Macules and bullae were not described in any of the included cases. Among cases of systemic IgG4-RD, cutaneous head and neck involvement was most common and statistically significantly associated with the diagnosis of IgG4-RD (P = .001).
LIMITATIONS
These findings are limited by reporting and publication bias of particular cases and by small sample size.
CONCLUSIONS
Papules, plaques, and nodules of the head and neck appear to characterize patients with cutaneous IgG4-RD, which nevertheless usually presents with systemic manifestations.
Topics: Autoimmune Diseases; Fibrosis; Head; Humans; Immunoglobulin G; Inflammation; Neck; Skin; Skin Diseases
PubMed: 26946983
DOI: 10.1016/j.jaad.2016.01.046 -
The British Journal of Dermatology Oct 2013Vitiligo is a disfiguring disease, characterized frequently by the presence of de-pigmented macules and/or patches. Traditional therapies are essentially medical and are... (Review)
Review
BACKGROUND
Vitiligo is a disfiguring disease, characterized frequently by the presence of de-pigmented macules and/or patches. Traditional therapies are essentially medical and are most preferred by dermatologists. Surgical therapies, however, are amongst the most effective interventions for vitiligo but are limited by their invasive nature, as well as the training and expertise needed to perform specific procedures.
OBJECTIVES
To assess the evidence for the effectiveness, safety and applicability of the various surgical methods in the treatment of vitiligo.
METHODS
For this systematic review of vitiligo surgical therapies, our searches included: PubMed, MEDLINE and Cochrane databases.
RESULTS
We reviewed research studies reporting on split thickness skin grafts (STSG), punch/mini-graft, blister roof grafting, cultured and non-cultured cellular transplantation (MKTP). While all methods vary in their repigmentation outcomes, STSG is found to have the highest repigmentation success rate. Overall, post-operative complications included milia, scarring, cobblestone appearance or hyperpigmentation of treated areas.
CONCLUSION
This review highlights the need for more randomized controlled trials in this field, underpinned by a more standardized objective approach to the assessment of repigmentation following surgical interventions.
Topics: Cells, Cultured; Epidemiologic Methods; Humans; Postoperative Complications; Recurrence; Skin Transplantation; Treatment Outcome; Vitiligo
PubMed: 24098901
DOI: 10.1111/bjd.12532 -
Journal of the National Cancer Institute Nov 2013PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic criteria for... (Review)
Review
BACKGROUND
PTEN hamartoma tumor syndrome (PHTS) refers to a spectrum of disorders caused by mutations in the phosphatase and tensin homolog (PTEN) gene. Diagnostic criteria for Cowden syndrome, the principal PTEN-related disorder, were first established in 1996 before the identification of the PTEN gene and the ability to molecularly confirm a clinical diagnosis. These consortium criteria were based on clinical experience and case reports in the existing literature, with their inherent selection biases. Although it was initially reported that approximately 80% of patients with Cowden syndrome had an identifiable germline PTEN mutation, more recent work has shown these diagnostic criteria to be far less specific. In addition, increasing evidence has documented the association of a broader spectrum of clinical features with PTEN mutations. Our goal was to develop revised, evidence-based diagnostic criteria and to include features of the broader spectrum of PTEN-related clinical syndromes.
METHODS
We performed a systematic search and review of the medical literature related to clinical features reported in individuals with a PTEN mutation and/or a related clinical diagnosis.
RESULTS
We found no sufficient evidence to support inclusion of benign breast disease, uterine fibroids, or genitourinary malformations as diagnostic criteria. There was evidence to include autism spectrum disorders, colon cancer, esophageal glycogenic acanthosis, penile macules, renal cell carcinoma, testicular lipomatosis, and vascular anomalies.
CONCLUSIONS
We propose revised, evidence-based criteria covering the spectrum of PTEN-related clinical disorders. Additional research on clinical features associated with PTEN mutations is warranted.
Topics: Brain; Brain Neoplasms; Breast; Breast Neoplasms; Diagnosis, Differential; Evidence-Based Medicine; Gastrointestinal Neoplasms; Gastrointestinal Tract; Germ-Line Mutation; Hamartoma Syndrome, Multiple; Humans; PTEN Phosphohydrolase; Skin; Skin Neoplasms; Thyroid Gland; Thyroid Neoplasms; Urogenital Neoplasms; Urogenital System
PubMed: 24136893
DOI: 10.1093/jnci/djt277 -
Complementary Therapies in Medicine Oct 2010The aim of this review was to identify adverse events of moxibustion as reported in the medical literature. (Review)
Review
OBJECTIVES
The aim of this review was to identify adverse events of moxibustion as reported in the medical literature.
METHODS
Computerised literature searches were carried out in 14 databases. All articles reporting adverse effects of any type from moxibustion in humans were included, regardless of study design and publication language. The related journals and references in all located articles were manually searched for further relevant articles. Data were extracted and evaluated according to predefined criteria by three independent reviewers.
RESULTS
Adverse events related to moxibustion treatment were reported in 4 randomised clinical trials, 1 controlled clinical trial, 2 uncontrolled observational studies, 13 case reports, and 1 prospective study. The most common effects identified in this review were allergic reactions, burns, and infections such as cellulitis and hepatitis C. Allergic reactions were reported in six case reports (four case reports related to infections and two related to burns). The other articles were case reports of xerophthalmia, xeroderma, hyperpigmented macules, ptosis and eversion of the eyelids. In clinical trials, various adverse events such as rubefaction, blistering, itching sensations, discomfort due to smoke, general fatigue, stomach upsets, flare-ups, headaches, and burns were reported. Tenderness and pressure in the epigastric region or in one of the hypochondriac regions, unpleasant odour with or without nausea and throat problems, abdominal pain, premature birth, premature rupture of the membrane and bleeding due to excess pressure on the anterior placenta were reported in pregnant women.
CONCLUSION
Moxibustion is not entirely risk free, as it has several kinds of potential adverse events such as allergy, burn and infection. Currently, the incidence of such events is not known. In the interest of patient safety, sufficiently large prospective studies should be considered to clarify this issue.
Topics: Burns; Humans; Hypersensitivity; Infections; Moxibustion; Skin
PubMed: 21056845
DOI: 10.1016/j.ctim.2010.07.001 -
JBI Library of Systematic Reviews 2010Vitiligo is the most common pigmentation disorder. It is an acquired, progressive disorder, presenting with white macules that can appear anywhere on the skin....
BACKGROUND
Vitiligo is the most common pigmentation disorder. It is an acquired, progressive disorder, presenting with white macules that can appear anywhere on the skin. Presently, there is no cure for vitiligo. Although there are therapies targeted at improving its appearance, their effectiveness is limited. Without satisfactory solution to vitiligo, patients are permanently disfigured for life. Quality of life of vitiligo patients has been commonly found to be moderately impaired. Patients are chronically embarrassed and depressed. Stigmatisation is also common and cause marginalization. Hence, while vitiligo is not "life-threatening", it can be "life-ruining". Because current treatments are unsatisfactory in repigmenting the skin, the question of continuing treatment must also consider the benefits to quality of life, and that is the purpose of this review.
OBJECTIVE
The overall objective of this systematic review was to examine the effectiveness of therapeutic interventions, in terms of quality of life for adult patients with vitiligo.
INCLUSION CRITERIA
Types of studies - The review considered quantitative papers, including randomised controlled trials and quasi-experimental studies.Types of participants - Adult patients who have vitiligo from 18 to 75 years-old.Types of interventions - This review considered studies of current therapeutic interventions for vitiligo, including oral, topical, combination, camouflage, cognitive-behavioural therapy and grafting.Types of measured outcomes - Quality of life outcomes as measured by validated tools.
SEARCH STRATEGY
The search aimed to find published studies and papers, limited to English language reports. A three-step search strategy was utilised: An initial limited search of MEDLINE and CINAHL was undertaken, followed by an analysis of the text words contained in the title and abstract, and of the index terms used to describe the article. A second search using all identified keywords and index terms were then undertaken. Search strategies were developed using terms that were specific to the databases. Thirdly, the reference lists of all identified papers were searched for additional studies. The databases searched include: PubMed, CINAHL, Scopus, JSTOR, ScienceDirect,PsycARTICLES (Ovid) and PsycINFO (Ovid) DATA COLLECTION: Two reviewers critically appraised the methodological quality of research studies using a standardised critical appraisal tool from the Joanna-Briggs Institute.
DATA ANALYSIS
Data was extracted from nine papers for this review, however as the studies were heterogeneous in population, interventions and methodologies, it was not possible to conduct a meta-analysis to establish superiority of interventions in terms of improving quality of life. Hence, a narrative summary was presented to collate the results of the interventions where there were similar.
RESULTS
All treatments were found to improve quality of life for vitiligo patients. Disease-altering interventions that were effective in repigmentation arrest of disease progression were also effective in improving quality of life. Lifestyle-altering interventions were found to be selectively effective for patients with more severe quality of life impairment and Subscale analysis showed particular effectiveness of interventions in improving the emotional dimension of quality of life.
CONCLUSION
Current interventions for vitiligo are effective in bettering the quality of life either by improving physical appearance of the patient or by addressing the psychological distress directly. Less effectiveness was achieved for the functional and social dimensions, which are more dependent on social and cultural norms. This suggests that current interventions alone are inadequate to address the holistic quality of life challenges associated with vitiligo.
IMPLICATIONS FOR PRACTICE
IMPLICATIONS FOR RESEARCH.
PubMed: 27820500
DOI: 10.11124/01938924-201008290-00001