Skin manifestations among GATA2-deficient patients

International audienceGATA2 mutations have been identified in various diseases, such as MonoMAC syndrome, Emberger syndrome, familial myelodysplastic syndrome, acute myeloid leukaemia and dendritic cell, monocyte, B-cell and natural killer-cell deficiency. These syndromes present a wide range of clinical features, dominated by severe infections and haematological disorders such as myelodysplastic syndrome. Up to 70% of patients with GATA2 mutations have dermatological features, mainly genital or extragenital warts, panniculitis or erythema nodosum and lymphoedema. We report three patients presenting with common dermatological and haematological features leading to the diagnosis of GATA2 deficiency, but also with skin manifestations that have not been previously described gingival hypertrophy, macroglossitis and glossitis and granulomatous lupoid facial lesions. Dermatologists can encounter patients with GATA2 mutations and should recognize this disorder

Demographic, clinical and antibody characteristics of patients with digital ulcers in systemic sclerosis: data from the DUO Registry

OBJECTIVES: The Digital Ulcers Outcome (DUO) Registry was designed to describe the clinical and antibody characteristics, disease course and outcomes of patients with digital ulcers associated with systemic sclerosis (SSc). METHODS: The DUO Registry is a European, prospective, multicentre, observational, registry of SSc patients with ongoing digital ulcer disease, irrespective of treatment regimen. Data collected included demographics, SSc duration, SSc subset, internal organ manifestations, autoantibodies, previous and ongoing interventions and complications related to digital ulcers. RESULTS: Up to 19 November 2010 a total of 2439 patients had enrolled into the registry. Most were classified as either limited cutaneous SSc (lcSSc; 52.2%) or diffuse cutaneous SSc (dcSSc; 36.9%). Digital ulcers developed earlier in patients with dcSSc compared with lcSSc. Almost all patients (95.7%) tested positive for antinuclear antibodies, 45.2% for anti-scleroderma-70 and 43.6% for anticentromere antibodies (ACA). The first digital ulcer in the anti-scleroderma-70-positive patient cohort occurred approximately 5 years earlier than the ACA-positive patient group. CONCLUSIONS: This study provides data from a large cohort of SSc patients with a history of digital ulcers. The early occurrence and high frequency of digital ulcer complications are especially seen in patients with dcSSc and/or anti-scleroderma-70 antibodies

Medico-administrative databases as research tools for joint European epidemiological studies

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Supplementarydata_AdulthoodAtopicDermatitisandSystemicInfections

These data is the supplementary material of a paper accepted for publication in The Journal of The American Academy of Dermatology, entitled “Risk of systemic infections in adults with atopic dermatitis: a nationwide cohort study.” by Catherine Droitcourt et al. The objective of this nationwide registry-based study was to examine whether adults with AD had increased risk of systemic infections compared to adults from the general population. The design is a cohort study. Hazard ratios (HR) with 95% confidence intervals (CI) were estimated using Cox models. These data include additional details on material and methods (identification of the covariates and definition of categories of atopic dermatitis severity); the list of International Classification of Diseases, version 10 (ICD-10) codes used to identify the systemic infections and the general comorbidities with the Charlson comorbidity index; the results of stratified analyses according to gender, age group (18 to 39 years and over 39 years), use of systemic corticosteroid (yes/no) and atopic dermatitis severity; and the result of sensitivity analyses (one including only systemic infections which leads to hospitalization (>24 hours) and one including possible hospital-acquired systemic infections defined by hospital secondary diagnoses)

Risk of systemic infections requiring hospitalization in children with atopic dermatitis:a Danish retrospective nationwide cohort study

International audienceBackground - Infections can trigger worsening of atopic dermatitis (AD). Objectives - To examine whether hospital-managed paediatric AD is associated with increased risk of extracutaneous infections requiring hospitalization in childhood. Methods - A nationwide-based cohort study using Danish registries was done. Children aged < 18 years with a hospital diagnosis of AD and children without a hospital diagnosis of AD were sex- and age-matched at date of AD diagnosis. Study outcomes were extracutaneous infections that led to hospitalization. AD severity was defined according to prescriptions for treatments. Results - Of 19 415 children with AD [median follow-up 7·4 years; interquartile range (IQR) 3·3-13.3] and 194 150 without AD (median follow-up 7·7 years; IQR 3·6-13·5), 56% were boys and 50% were aged < 2 years. Children with AD had an increased rate of lower respiratory [LRTI; adjusted hazard ratio (aHR) 1·79, 95% confidence interval (CI) 1·65-1·94)], upper respiratory (URTI; aHR 1·59, 95% CI 1·34-1·88), urinary tract (UTI; aHR 1·34, 95% CI 1·16-1·54), musculoskeletal (MSSI; aHR 1·33, 95% CI 1·06-1·66) and gastrointestinal infections (GITIs; aHR 1·24, 95% CI 1·14-1·35) vs. children without AD. Associations did not clearly vary with AD severity. Absolute risk difference per 10 000 person-years was 26·4 (95% CI 23·0-29·8) for LRTIs, 3·1 (95% CI 1·6-4·7) for URTIs, 3·6 (95% CI 1·8-5·4) for UTIs, 0·9 (95% CI 0·2-2·0) for MSSIs and 8·7 (95% CI 5·7-11·7) for GITIs. Conclusions - Children with hospital-managed AD have an increased risk of systemic infections that lead to hospitalization; absolute risk is generally low