接触性荨麻疹

接触致敏物后出现皮肤发红、风团、瘙痒等表现,称为接触性荨麻疹.根据疾病的发生机制可分为非免疫性、免疫性和不明机制者.非免疫性接触性荨麻疹表现为接触局部出现皮损,往往在数小时内皮疹消退.而免疫性接触性荨麻疹除了局部表现外,常伴有呼吸道和消化道等其他系统受累.该疾病的病因复杂多样,病因治疗较为困难,特异性免疫疗法、抗IgE单克隆抗体可能为该病的治疗带来希望.     

儿童急性荨麻疹的心电图观察

目的 了解儿童急性荨麻疹对心脏的影响。方法 对急性荨麻疹患儿593例行常规心电图检查。结果 33例(5．6％)患儿出现心电图异常改变，主要表现为I度房室传导阻滞、室性早搏、T波低平。皮损消失后心电图亦恢复正常。结论 急性荨麻疹患儿可伴有心脏的损害，临床上应予以重视。     

Plötzlicher Tod bei Urticaria pigmentosa

Zusammenfassung Es wird über den plötzlichen Tod eines 25jährigen berichtet, bei dem seit 6 Jahren eine Urticaria pigmentosa bekannt war. Er wurde an einem kalten Novembermorgen auf dem taunassen Rasen tot aufgefunden. Histologisch fanden sich keine Anhaltspunkte für eine systemische Mastozytose. Die biochemischen Untersuchungen (stark erhöhter Histamin-Wert im Urin) erklärten zusammen mit der BAK von 0,72 und der Auffindesituation (Kältereiz) den todlichen Pathomechanismus, eine generalisierte anaphylaktoide Reaktion. Sonderdruckanfragen an: J. Bolt     

Urticaria por frío. Caracterización de la población de una clínica ambulatoria especializada en urticaria

IntroductionCold Urticaria (ColdU) is a type of chronic inducible urticaria (CIndU) where recurrent pruritic wheals and/or angioedema occur after exposure to cold stimulus. Although it usually only affects exposed areas, systemic reactions can occur in severe cases. In this study, we seek to characterize the ColdU cases within our Centre's population of patients.Material and methodsRetrospective study based on clinical files of patients diagnosed with ColdU followed in an urticaria outpatient clinic in Portugal prior to October 2020.ResultsWe included 52 patients total (40 women) with median age of 35 years, 19 patients with symptom onset before 18 years-old. ColdU was classified as acquired in all patients. Cold provocation tests were negative in 9 patients and these were classified as atypical ColdU. No significant differences were found between those with pediatric or adult onset of disease. Most of the patients had a localized form of the disease (52%). Despite not being statistically significant, it was found that patient's temperature threshold, assessed with TempTest® 4.0, was higher and stimulation time was shorter in more severe groups. All patients were treated with non-sedating antihistamines (daily or on-demand), finding that those controlled with standard dosages had lower temperature thresholds than those needing higher dosages (p < 0.01). One patient was under treatment with omalizumab.ConclusionColdU is an heterogenous disease that can have life-threatening event consequences. Cold provocation tests and threshold assessment can be an important tool in the management treatment and in identifying severity groups.     

Monogenic lupus due to DNASE1L3 deficiency in a pediatric patient with urticarial rash,hypocomplementemia, pulmonary hemorrhage,and immune-complex glomerulonephritis

Systemic lupus erythematosus (SLE) is a multisystem autoimmune disease and usually involves the skin, musculoskeletal system, and kidneys. More than 30 genes have been to monogenic lupus, so far. Monogenic lupus is often characterized by an early-onset, similar family history, and syndromic appearance. Herein we present a pediatric patient with DNASE1L3 deficiency, suffering from both urticarial skin lesions, recurrent hemoptysis, and renal involvement, eventually diagnosed as this rare monogenic lupus.The patient suffered from recurrent urticarial rash and hemoptysis since the age of 15 months of age. He had microscopic hematuria, mild proteinuria, hypocomplementemia, and positive antinuclear antibody, anti-dsDNA, and antineutrophil cytoplasmic antibodies. Renal biopsy yielded immunocomplex glomerulonephritis. Due to early-onset, similar sibling history and consanguineous parents, we suspected monogenic lupus and performed whole-exome sequencing, which further revealed a homozygous T97Ifs*2 mutation (NM_004944.4: c.290_291delCA/p.Thr97Ilefs*2) in DNASE1L3 gene.In conclusion, DNASE1L3 deficiency should be thought when juvenile SLE occurs with early disease-onset, pulmonary hemorrhage, glomerulonephritis, and recurrent urticarial rash along with ANCA positivity.