The SDF-1 3'A allelic polymorphism has been reported to influence either positively or negatively the progression of human immunodeficiency virus type 1 (HIV-1) disease. Therefore, the SDF-1 genotype of 729 HIV-1-infected individuals pooled from 3 distinct cohorts was determined. A statistically nonsignificant association between the SDF1-3'A/3'A genotype and accelerated disease progression was evident among seroconverters (n=319), but a striking correlation of decreased survival after either diagnosis of AIDS according to the 1993 definition or loss of CD4(+) T cell counts <200 was observed. The relative hazards for SDF1-3'A/3'A homozygotes, compared with heterozygotes and wild-type homozygotes were 2.16 (P=.0047), for time from diagnosis according to the 1993 Centers for Disease Control and Prevention AIDS case definition (AIDS-'93) to death, and 3.43 (P=.0001), for time from CD4(+) T cells <200 to death. Because no difference in survival was observed after diagnosis according to AIDS-'87, the association of the SDF1-3'A/3'A genotype with the accelerated progression of late-stage HIV-1 disease appears to be explained for the most part by the loss of CD4(+) T lymphocytes.

Systemic mastocytosis is a rare heterogeneous myeloproliferative neoplasm characterized by abnormal proliferation and activation of mast cells. We describe a large multicentre series of 460 adult patients with systemic mastocytosis, with a diagnosis based on WHO 2008 criteria, in a "real-life" setting of ten Italian centers with dedicated multidisciplinary programs. We included indolent forms with (n 5 255) and without (n 5 165) skin lesions, smouldering (n 5 20), aggressive (n 5 28), associated with other hematological diseases mastocytosis (n 5 21) and mast cell leukemia (n 5 1). This series was uniquely characterized by a substantial proportion of patients with low burden of neoplastic mast cells; notably, 38% of cases were diagnosed using only minor diagnostic criteria according to WHO 2008 classification, underlying the feasibility of early diagnosis where all diagnostic approaches are made available. This has particular clinical relevance for prevention of anaphylaxis manifestations, that were typically associated with indolent forms. In multivariate analysis, the most important features associated with shortened overall survival were disease subtype and age at diagnosis >60 years. Disease progression was correlated with mastocytosis subtype and thrombocytopenia. As many as 32% of patients with aggressive mastocytosis suffered from early evolution into acute leukemia. Overall, this study provides novel information about diagnostic approaches and current presentation of patients with SM and underlines the importance of networks and specialized centers to facilitate early diagnosis and prevent disease-associated manifestations.

Background Linear IgA bullous dermatosis (LABD) is a rare autoimmune subepithelial vesiculobullous disease due to IgA autoantibodies directed against different antigens of the basement membrane zone (BMZ) of the skin and/or mucosae. It affects mainly preschool-aged children and adults, with only few studies on large series. The aim of this study was to assess possible differences between adults and children regarding clinical presentation, immunopathologic features, management and course of the disease. Methods A retrospective review of 38 LABD patients, followed-up from November 2006 to September 2018, was performed. Results Of 38 patients, 27 were adults and 11 children. Mean age at diagnosis was 5.4 years and 60.6 years in the pediatric and adult group, respectively. Considering both groups, limbs were the most commonly involved site (73.7%), followed by trunk (55.3%), head (36.8%) and buttocks (13.2%). Interestingly, head ( p = 0.008), particularly perioral ( p = 0.001), involvement, as well as “string of pearls” arrangement ( p = 0.03), were more prevalent in children. Mucosal involvement was seen in 9 (23.7%) patients and was more frequent in children than adults (45.5% vs 14.8%, respectively, p = 0.09). Linear IgA deposits along the BMZ were observed in 30 patients (78.9%), while linear/granular IgA deposits in 8 patients (21.1%). Dapsone was the most commonly used drug (78.9%) and complete remission was achieved in most cases (81.6%). Conclusions Our epidemiological and clinicopathological findings relative to a large cohort of LABD patients are mostly consistent with the literature data. Interestingly, head, notably perioral, involvement and “string of pearls” arrangement occurred more frequently in the paediatric than adult group. The above clinical parameters may be regarded as diagnostic tools for LABD in children. Electronic supplementary material The online version of this article (10.1186/s13023-019-1089-2) contains supplementary material, which is available to authorized users.

Background: Treatment regimens for pemphigoid gestationis (PG) are non-standardized, with most evidence derived from individual case reports or small series.Objectives: To systematically review current literature on treatments and clinical outcomes of PG and to establish recommendations on its therapeutic management.Methods: An a priori protocol was designed based on PRISMA guidelines. PubMed, Scopus, and Web of Science databases were searched for English-language articles detailing PG treatments and clinical outcomes, published between 1970 and March 2020.Results: In total, 109 articles including 140 PG patients were analyzed. No randomized controlled trials or robust observational studies detailing PG treatment were found. Systemic corticosteroids ± topical corticosteroids and/or antihistamines were the most frequently prescribed treatment modality (n = 74/137; 54%). Complete remission was achieved by 114/136 (83.8%) patients. Sixty-four patients (45.7%) were given more than one treatment modality due to side effects or ineffectiveness. Leaving aside topical corticosteroids as monotherapy ± antihistamines in patients with mild disease, systemic corticosteroids ± topical corticosteroids and/or antihistamines led to complete remission in the highest proportion of patients (83%), while steroid-sparing treatments ± topical corticosteroids and/or antihistamines were associated with the lowest proportion of flares (55.5%).Limitations: The review has been drafted based on a limited number of single case reports and small case series. Underreporting/underdiagnosis of patients with mild-to-moderate PG, partial/absent follow-up, absence of precise description of neonatal outcomes and lack of validated objective scores for measuring disease severity are other limitations of our study. Our systematic review was affected by publication bias.Conclusion: Systemic corticosteroids are the most frequently used treatment for PG. Whilst most patients achieve complete remission, many of them have refractory/persistent disease requiring multiple lines of therapy. Therefore, we provided an algorithm for PG treatment integrating the results of this systematic review with current knowledge available for bullous pemphigoid. High-quality studies will further help assess the effectiveness of different treatment options for PG.

Background Hidradenitis suppurativa (HS) is a debilitating, chronic‐relapsing, inflammatory skin disease of apocrine gland‐bearing skin, presenting with nodules, abscesses, and fistulae. Ultrasound is used to classify HS lesions but evaluation of vascularization, related to tissue inflammation, needs Color Doppler. The aim was to correlate vascularization of HS lesions with patients’ reported pain. Methods Vascularization was assessed with Hitachi Arietta V‐70 sonographer according to a four‐category system ranging from absent (0), minimal (1), moderate (2) vascularization, and detectable vascular flow (3). Pain was scored with Numeric Rating Scale (NRS) from 0 to 10. Results Twenty‐four patients were included, 13 men (54.2%) and 11 women with mean age of 37.2 (range: 19‐61 years). Sixty‐nine HS lesions were studied: none of the lesions with absence of vascularization was painful. Lesions with minimal vascularization had a mean NRS value of 3.1 (range: 0 to 7; standard deviation [SD]: 1.6). Lesions with moderate vascularization had a mean NRS value of 6.4 (range: 4‐8; SD: 1.4). Lesions with intense vascular flow had a mean NRS value of 7.8 (range: 5‐9; SD: 1.7). Correlation Spearman's rank coefficient calculated between the class of vascularization and the mean NRS value was 0.98, supporting high correlation between intensity of vascularization and local pain. Conclusion The present study is the first one demonstrating correlation between vascularization of HS lesions assessed with Color Doppler and local pain. Color Doppler may be a dynamic diagnostic tool that can address the therapeutic approach and assess response to treatment in HS.