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Patient: Female, 11 Final Diagnosis: Bullous pemphigoid in systemic lupus erythematosus Symptoms: Bullous lupus • photosensitive rash • synovitis Medication:— Clinical Procedure: Pharmacological treatment Specialty: Rheumatology Objective: Unusual clinical course Background: Bullous pemphigoid is an autoimmune blistering disease, with relapses, isolated or associated with other autoimmune diseases such as systemic lupus erythematosus (SLE). Joint manifestations rapidly respond to small or moderate doses of corticosteroids, whereas skin manifestations usually respond to antimalarial drugs. Case Report: We describe the clinical case of an 11-year-old girl with SLE. She showed bullous skin lesions with arthralgia, mild proteinuria, resolved after steroid treatment. At the tapering of her prednisone dose, the patient had new skin lesions requiring an increased dose of prednisone. She started dapsone at the dosage of 1 mg/kg/day, maintaining low dose prednisone; this treatment was successfully followed by the dramatic disappearance of skin lesions and limb pain. Conclusions: Bullous skin lesions can represent the first clinical presentation of pediatric SLE and could influence the treatment and the outcome of these patients. This case showed an atypical course as both skin manifestations and arthritis promptly and persistently resolved with dapsone without the use of high-dose glucocorticoids. Only a few cases of patients with SLE associated with bullous pemphigoid have been reported in the literature, and very few in the pediatric population.

Background: Kawasaki disease (KD) is an acute systemic vasculitis of small and middle size arteries; 15-25 % of untreated patients and 5 % of patients treated with intravenous immunoglobulin (IVIG) develop coronary artery lesions (CAL). Many studies tried to find the most effective treatment in the management of resistant KD and to select the risk factors for CAL. Our data are assessed on children from west Sicily, characterized by a genetic heterogeneity. Methods: We studied the clinical data of 70 KD Sicilian children (36 males: 51 %; 34 females: 49 %), analysed retrospectively, including: demographic and laboratory parameters; echocardiographic findings at diagnosis, at 2, 6 and 8 weeks, and at 1 year after the onset of the illness. Results: Forty-seven had Typical KD, three Atypical KD and twenty Incomplete KD. Age at the disease onset ranged from 0.1 to 8.9 years. IVIG were administered 5 ± 2 days after the fever started. Defervescence occurred 39 ± 26 hours after the first IVIG infusion. Fifty-six patients (80 %) received 1 dose of IVIG (responders); 14 patients (20 %) had a resistant KD, with persistent fever after the first IVIG dose (non responders). Ten (14 %) non responders responded to the second dose, 4 (5 %) responded to three doses; one needed treatment with high doses of steroids and Infliximab. Cardiac involvement was documented in twenty-two cases (eighteen with transient dilatation/ectasia, fifteen with aneurysms). Pericardial effusion, documented in eleven, was associated with coronaritis and aneurysms, and was present earlier than coronary involvement in seven. Hypoalbuminemia, D-dimer pre-IVIG, gamma-GT pre-IVIG showed a statistically significant direct correlation with IVIG doses, highlighting the role of these parameters as predictor markers of refractory disease. The persistence of elevated CRP, AST, ALT levels, a persistent hyponatremia and hypoalbuminemia after IVIG therapy, also had a statistical significant correlation with IVIG doses. Non responders showed higher levels of D-dimer and gamma-GT pre-IVIG, persistent high levels of D-dimer, CRP, AST, ALT, hypoalbuminemia and hyponatremia after IVIG. Conclusions: This is the first study on KD in Sicily. We suggest some laboratory parameters as predictive criteria for resistant KD. Patients who show early pericarditis need careful surveillance for coronary lesions.

The coexistence of mutations in more than one gene, linked to Autoinflammatory Diesases, can confuse and make difficult the diagnosis and management of these patients, especially in childhood, when the clinical history is still brief.

Autoinflammatory disorders (AIDs) are a novel class of diseases elicited by mutations in genes regulating the homeostasis of innate immune complexes, named inflammasomes, which lead to uncontrolled oversecretion of the proinflammatory cytokine interleukin-1β. Protean inflammatory symptoms are variably associated with periodic fever, depicting multiple specific conditions. Childhood is usually the lifetime in which most hereditary AIDs start, though still a relevant number of patients may experience a delayed disease onset and receive a definite diagnosis during adulthood. As a major referral laboratory for patients with recurrent fevers, we have tested samples from 787 patients in the period September 2007–March 2014, with a total of 1,328 AID-related genes evaluated and a gene/patient ratio of 1.69. In this report, we describe our experience in the clinical approach to AIDs, highlight the most striking differences between child and adult-onset AIDs, and shed an eye-opening insight into their diagnostic process.

Introduction: Severe adverse events have been described in children affected by Juvenile Idiopathic Arthritis (JIA) and Inflammatory Bowel Disease (IBD) treated with anti-tnf drugs. Objectives: To define the risk of severe adverse events in patients with JIA and IBD treated with anti-tnf drugs. Methods: This is a retrospective cohort study. All patients with JIA and IBD attending the "IRCCS Burlo Garofolo" of Trieste from 2000 to 2012 were enrolled. They were divided into 2 groups on the basis of the presence or absence of anti-tnf exposure. Severe adverse events were considered the followings: a) infections needing anti-tnf permanent suspension and/or hospitalization; b) autoimmune diseases with present or potential organ damage, except for hepatitis and cholangitis during IBD; c) anaphylaxis; d) malignancies. Univariate analysis testing the effect of anti-tnf exposure on adverse events appearance was realized. Results: 323 patients were enrolled (159 with JIA and 164 with IBD). 120 patients were exposed to anti-tnf and 203 were not. Infliximab was the most used anti-tnf (73 patients), followed by etanercept (56 patients) and adalimumab (21 patients). Mean total duration of anti-tnf therapy was 26 months (min.1, max.127). The two cohorts were comparable for sex, age, diagnosis and other therapies assumed. Severe adverse events occurred in 38 anti-tnf-exposed patients (31.7%) and 22 of the not-exposed group (10.8%), with a statistically significant difference (p = 0.000) and a relative risk (RR) of 2.9 (95% confidence interval, CI, 1.8 to 4.7). Anaphylaxis occured in 11 patients (9.2% of the anti-tnf-treated), all assuming infliximab; in the not-treated group none presented reactions (p = 0.000). Infection rate was 6.7% in the anti-tnf-treated group (8 patients) and 3.5% in the not-exposed group (7 patients) (p = 0.273, RR = 1.9, 95% CI: 0.7 to 5.2). Incidence rate of autoimmune diseases in patients treated with anti-tnf was 18.3% (22 patients) vs 7.9% in not-exposed cohort (p = 0.007, RR = 2.3, 95% CI: 1.3 to 4.2). Uveitis was the most frequent autoimmune disease. Both uveitis and lupus-like syndrome were more likely in the subgroup of patients treated with anti-tnf (p = 0.005, RR = 2.5, 95% CI: 1.1 to 6.0 for uveitis and p = 0.050 for lupus-like syndrome). No patients developed malignancies. The outcome of severe anti-tnf drug reactions was as follows: 2 out of 3 uveitis, all anaphylactic reactions, severe infections and lupus-like syndromes healed without organ damage, whereas the other autoimmune complications have been still treating with a good clinical outcome. Conclusion: The patients with JIA or IBD treated with anti-tnf have a higher risk of severe adverse events, like anaphylaxis and autoimmune diseases (in particular uveitis and lupus-like syndrome), whereas it seems that this risk does not exist for severe infections. No malignancies were observed during follow up. Our data suggest that, although the risk of severe adverse reactions to anti-tnf therapy is significant, the occurrence of a permanent damage results very low.

Background Kawasaki disease (KD) is an acute, self-limited vasculitis of infants and children that is nowadays the most common cause of acquired heart disease in children. Transient sensorineural hearing loss (20 to 35 dB) is a possible complication of acute phase KD and may be related to salicylate toxicity in some patients. Objectives Brainstem Auditory Evoked Potentials (BAEPs) , and Visual Evoked Potentials (VEPs) were examined in 43 children (age: 0,8-7,5 years) affected by KD. No risk factors for hearing loss and/or neurological impairment of CNS were identified in all the patients. BAEPs showed altered waves II to V, in 18 patients (42%). Among these, in 4 patients (20%) VEPs showed altered waves. Results The 18 patients with altered waves of BAEPs were 11 with typical KD, 7 with incomplete KD. Among the 11 patients with altered BAEPs and typical KD, 36% showed coronaritis; among the 7 patients with altered BAEPs and incomplete KD, 57% showed coronaritis. The evaluation of waves VI, VII, interpeak latency V-VII were performed in all the patients and showed a pathological pattern in 72% of altered BAEPs, but also in 68% of patients with normal waves I to V. These waves are expression of neuronal conduction in medial geniculate, acoustic radiations, sign of a lesion of mesencephalon, thalamus and/or acoustic radiations. No correlation was relieved with EVIG doses, days of fever at the start of EVIG, pre-EVIG D-Dimer plasmatic levels, CRP, ESR, leukocytes, neutrophils percentage pre- and post- EVIG. Conclusions Altered BAEPs waves are relieved in 81% of KD patients; 70% of KD patients showed altered VI, VII and/or V-VII expression of CNS vasculitis of mesencephalon, thalamus and/or acoustic radiations. Despite normal hearing acuity these children showed a vasculitis of CNS, in 43% of them coronaritis was associated. References Knott PD, Orloff LA, Harris JP, Novak RE, Burns JC; Kawasaki Disease Multicenter Hearing Loss Study Group. Sensorineural hearing loss and Kawasaki disease: a prospective study. Am J Otolaryngol. 2001;22(5):343-8. Disclosure of Interest None declared

About 100 cases of AHEI have been published in medical literature worldwide. Although initially considered a variant of Henoch-Schonlein purpura (HSP), it is now considered a separate entity: in fact it shows infrequently visceral involvement and IgA skin depositions. Furthermore these patients show a better prognosis than HSP patients. Onset age for AHEI usually ranges between 4 and 24 months but it spreads from birth to 60 months. AHEI, also defined Seidlmayer’s purpura (SP), is characterized by the triad: fever, oedema and purpura. The latter is usually rosette-, annular- or targeted-shaped primarily over the face, ears and extremities in a nontoxic infant. The development and the rapidity of the skin lesions’ onset are typical and more frequent in winter. Skin lesions are dramatic both in appearance and rapidity of onset. In some cases viral or bacterial infections, drugs, vaccinations are documented.