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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