Typical Urticaria Research Articles

"AM I ALLERGIC TO THE OCEAN?": HIVES IN A YOUNG VACATIONING GIRL

Introduction Saline-dependent aquagenic urticaria (SDAU) is a rare form of aquagenic urticaria with Typically 1-3 mm papular lesions, these hives are distributed on the face and neck, affecting mostly adolescent to middle aged women. Onset is usually within 20 minutes of exposure, with resolution within 30 minutes after discontinued exposure. Treatment with antihistamines is typically unsuccessful. Case Description A 7 year old female with chronic spontaneous urticaria and allergic rhinitis presented for evaluation of hives after swimming in the ocean. Onset was at 4.5 years of age; after going in the ocean she developed urticarial lesions on the neck, chest and legs which resolved within 30 minutes of getting out of the water. She developed similar rash on repeat exposure to salinated water in the ocean, salinated pools, and “slime” made with salinated solution, but not with exposure to tap or chlorinated water. Further instances were similarly distributed but later described as a fine papular, pruritic rash, worsening in intensity as she aged despite antihistamine use. In-clinic challenge was completed with gauze soaked with room temperature solutions of tap water, 3.5% saline and 7% saline. After 20 minutes, the gauze was removed and there was erythema and pruritus at the site of the 7% saline solution only. Discussion There have been two described pediatric cases of SDAU. This case is unique in that the patient developed typical urticaria as well as follicular lesions in an atypical distribution (including the chest and legs).

Pokrzywka Powysiłkowa i Obrzęk Naczynioruchowy—Opis Przypadku

Urticaria is a heterogeneous group of disorders, with various clinical manifestations and intensity of symptoms. Urticaria can be induced with a wide variety of environmental stimuli, such as cold, pressure, vibration, sunlight, exercise, temperature changes, heat, and water. In a select group of patients, exercise can induce a spectrum of urticaria symptoms, ranging from cutaneous pruritus and warmth, generalised urticaria, angioedema, and the appearance of such additional manifestations as collapse, upper respiratory distress, and anaphylaxis. Specific provocation tests should be carried out on an individual basis to investigate the suspected cause and proper diagnosis. Modification of activities and behaviour is the mainstay of treatment in patients with physical urticaria. The aim of this study was to emphasise that primary care paediatricians should be able to recognise physical urticaria, supply a patient with rescue medications, and refer him/her to a specialist. In the article, the authors present a 13-year-old girl with typical urticaria lesions and angioedema after exercise. According to the history, physical examination, and provocation test, exercise-induced urticaria and angioedema were diagnosed.

SF3B1, a Splicing Factor Gene, Is Infrequently Mutated in Rare Bone Marrow Failure Diseases but Still Associated with Ring Sideroblast Phenotype

AbstractAbstract 3485Bone marrow failure syndromes (BMFS) are clonal diseases characterized by inefficient hematopoiesis leading to cytopenias. The clinical and biological heterogeneity often complicates therapy. A number of biological/genetic causes determine the pathogenesis of BMFS (immunological factors, cytokine, telomeres length, T-cell repertoire, epigenetic, apoptotic dysregulation, and chromosomal instability). Whole exome/genome sequencing identified novel mutations in myeloid disorders. SF3B1, a splicing factor gene is mutated primarily in myelodysplastic syndromes (MDS) with ring sideroblasts (RS). SF3B1 mutations brought to light the potential role of spliceosomes in MDS. Although, infrequent in other myeloid malignancies, SF3B1 mutations are relatively frequent in Fludarabine-resistant chronic lymphocytic leukemia (CLL) patients (pts). We previously reported 2 cases: myelofibrosis and paroxysmal nocturnal hemoglobinuria (PNH) with SF3B1 mutations and concomitant RS. To investigate the potential role of SF3B1 in the pathogenesis of rare BMFS, we screened a cohort of BMFS and other rare diseases (N=107): PNH, n=25, aplastic anemia (AA, n=17), T-large granular lymphocytic leukemia (T-LGL, n=17), pure red cell aplasia (PRCA, n=16), and mast cell disease (MCD, n=32) for SF3B1 mutations (exons 13–16) by Sanger sequencing. We identified SF3B1 mutations in 4 pts (MCD; n=2, A711D & K666T; PNH; n=1; K666Q; PRCA, n=1; K666N). Clinical history of the mutated cases showed that the 2 MCD pts fulfilled the criteria for cutaneous and indolent MCD. In the cutaneous MCD pt, skin biopsy revealed typical urticaria pigmentosa highlighting a dermal inflammation with increased MC. No infiltration of MC was found in the BM and no dysplasia was noted, except for RS (6%). In the 2nd pt, the BM was hypocellular with clonal infiltration by MC. No other morphologic features were reported. Mutational analysis of genes implicated in diseases related to MCD, (c-KIT, TET2, IDH1/2, DNMT3A, EZH2, ASXL1, and CBL) showed a wild type configuration in both cases. The close association of MCD with chronic myelomonocytic leukemia (CMML) might explain SF3B1 mutations in the MCD pt as mutations in SF3B1 were reported in 6% of CMML. SF3B1 was also mutated in a pt with 10-year history of hemolytic PNH. BM pathology showed erythroid hyperplasia, no dysplasia, and increased RS (17%) in the BM. Perforin staining showed <0.1% positivity. Cytogenetic analysis showed a normal karyotype. No antecedent BM failure signs were found. The PNH clone was almost completely negative. Single-nucleotide polymorphism array showed the presence of a deletion of the X-chromosome in the PNH cell fraction (O’Keefe CL, Leukemia, 2011). Molecular screening detected absence of JAK2 which has been recently described to be harbored by pts with PNH and a deletion of Xp22.2 (Sugimori C, Blood Cell Cancer, 2012). PIG-A was not mutated. This case also underlines the association of SF3B1 and RS. In addition, SF3B1 could represent a second mutational event leading to PNH expansion in this case. Ultimately, we found SF3B1 mutated in a pt with acquired/PRCA. BM examination showed 50–60% cellularity, absence of erythroid precursors, and no overt sign of dysplasia. FISH analysis using MDS probes for chromosomes 5, 7, 8, and 20 was normal. The pt had increased platelets (470×109/L), macrocytic anemia, and low reticulocytes. No RS was detected in the BM. It is possible that a lymphoproliferative process might be the cause for the presence of SF3B1 mutation. In conclusion SF3B1 is infrequently mutated in rare BMFS. The presence of SF3B1 mutations in cases with no RS might suggest underlying processes not associated with RS, like a lymphoproliferative process. Technical issues in the preparation of BM biopsy samples may also result in undue leaching of iron leading to false negativity reads after Prussian blue staining. It is also possible that sensitive techniques (transmission electron microscopy) may help detecting iron deposits in these cases. The hypocellularity of the BM and paucity of erythroid precursors typically seen in pts with BMF particularly in PRCA, may hamper accurate detection of RS. SF3B1 has been shown to predict better overall survival in pts with MDS and RS. All the mutated pts discussed in this abstract are still alive. The long-term follow up will clarify whether those pts will acquire additional mutational events or changes in their genetic content. Disclosures:No relevant conflicts of interest to declare.

Persistent urticaria characterized by recurrent lasting urticarial erythema with histological features of prominent perivascular eosinophilic infiltration

We report a 29-year-old woman with a 15-year history of recurrent pruritic urticarial erythemas. The individual lesions lasted for > 24 h, and antihistaminic agents were not effective. Histological examination of a skin biopsy revealed interstitial oedema of the dermis and perivascular infiltration of numerous eosinophils without vasculitis. No internal organ involvement or peripheral blood eosinophilia was present. A diagnosis of persistent urticaria was made and the patient was successfully treated with oral corticosteroid therapy. Persistent urticaria has been described as an unusual reaction that lasts longer than typical urticaria. It is effectively treated with corticosteroids, but not with antihistaminic agents. In order to choose the most effective treatment, persistent urticaria should be recognized as a different clinical condition from typical urticaria.

Loa loa

THE CAUSE of chronic urticaria and angioedema remains unknown in many instances. We report a case in which the cause was found to be a filarial infection with<i>Loa loa</i>. <h3>Report of a Case</h3> A 49-year-old woman from Maine came to Mayo Clinic, Rochester, Minn, in July 1979 with a chief complaint of intermittent swellings for 14 months. In June 1977, she wakened with swelling of the left eyelid, which lasted two days. She assumed that she had been stung or bitten. One month later, swelling of the other eyelid occurred. Following this she had recurrent, painless swelling, at times pruritic, in various parts of the body. The swellings became more frequent and involved the eyes, cheeks, face, forearms, wrists, and trunk. The swellings lasted two to three days and occurred several times weekly. With the swellings she described typical urticaria. On at least one occasion, the patient noted "strangling"