Diagnosis and management of periodic fever with aphthous pharyngitis and adenitis (PFAPA)]

PFAPA is non-hereditary syndrome characterized by periodic episodes of high fever, aphthous stomatitis, pharyngitis and cervical adenitis. It manifests usually in early childhood, especially before 5 years of age, and last for several years. Its etiology is unknown, but some recent reports suggest a dysregulation of the immune response with continuous pro-inflammatory cytokine activation and a reduced anti-inflammatory response both during and between febrile attacks. The diagnosis is clinical and it is important to exclude other entities of similar presentation with periodic fever and orofacial manifestations. The findings of laboratory are unspecified and show only nonspecific acute inflammatory response. Several treatments have been performed but with various results. Most effective therapy for a fast resolution of the symptoms is one or two doses of oral prednisone, but its efficacy is not permanent. Effectiveness of cimetidine and tonsillectomy in PFAPA is not clear as yet. PFAPA is a benign syndrome and the prognosis is better than other autoinflammatory syndromes, because PFAPA patients grow normally and symptoms diminish within a few years.     

Relation of stiffness parameter β to carotid arteriosclerosis and silent cerebral infarction in patients on chronic hemodialysis

Objective   Aortic stiffness measured by pulse wave velocity (PWV) predicts all-cause and cardiovascular mortality in hemodialysis (HD) patients. However, there is a lack of information on stiffness parameter β, another index of arterial stiffness, in HD patients. The aim of the present study was to investigate the clinical usefulness of stiffness parameter β in HD patients. Materials and methods   We compared the relation of stiffness parameter β to carotid intima-media thickness (IMT) and plaque score estimated by carotid ultrasound and investigated the relationship between stiffness parameter β and silent cerebral infarction (SCI) in 64 HD patients. Results   Stiffness parameter β was positively correlated with mean IMT (r = 0.318, P = 0.0113) and plaque score (r = 0.672, P < 0.0001). Stepwise regression analysis revealed that pulse pressure and age were found to be independent determinants of stiffness parameter β (partial correlation coefficients: β = 0.501 and P < 0.0001 for pulse pressure, β = 0.488 and P < 0.0001 for age). In addition, stiffness parameter β in patients with SCI (12.2 ± 3.9) was significantly higher than those (8.0 ± 2.4) in patients without SCI. However, there was no significant difference in mean IMT and plaque score in both groups. Conclusion   These results suggest that arteriosclerosis assessed by stiffness parameter β is associated with atherosclerotic changes of carotid arteries and with the presence of SCI in HD patients.     

Analysis of high-affinity IgE receptor (FcepsilonR1) polymorphisms in patients with aspirin-intolerant chronic urticaria

Chronic urticaria (CU) associated with aspirin sensitivity, termed aspirin-intolerant CU (AICU), is a common condition in the general population. The genetic mechanism of AICU still is not fully understood. We investigated genetic polymorphisms of FcepsilonR1beta and FcepsilonR1gamma in patients with CU including AICU and aspirin-tolerant CU (ATCU) by analyzing the genotypes and haplotypes of four subsets of FcepsilonR1 genes in association with various clinical parameters. Four polymorphisms of FcepsilonR1 (FcepsilonR1beta -109T>C, FcepsilonR1beta E237G, FcepsilonR1gamma -237A>G, and FcepsilonR1gamma -54G>T) were genotyped in 119 AICU patients and compared with 154 patients with ATCU and 224 normal healthy controls (NCs). No significant differences were observed with respect to the allele and genotype frequencies of all four FcepsilonR1 single-nucleotide polymorphisms (SNPs; p > 0.05) in CU including AICU and ATCU patients. However, two SNPs at FcepsilonR1beta E237G and FcepsilonR1gamma -237A>G were associated with atopy in AICU patients but not in ATCU. AICU patients with the AG/GG genotype of FcepsilonR1beta E237G and FcepsilonR1gamma -237G allele had a significantly higher frequency of atopy than those with the AA genotype (p = 0.02 and p = 0.040), respectively. The release of histamine from basophils induced by anti-IgE antibodies was significantly higher in AICU patients than in NCs and was increased in atopic patients compared with nonatopic patients (p = 0.006 and p = 0.007, respectively). The FcepsilonR1beta E237G and FcepsilonR1gamma -237T>G polymorphisms may be associated with the rate of atopy, which in turn could increase the release of histamine from basophils and may lead to the development of the AICU phenotype.     

Clinical significance of intercellular adhesion molecule-1 in ulcerative colitis

This study was conducted to assess the clinical significance of intercellular adhesion molecule-1 (ICAM-1) in ulcerative colitis (UC). The subjects were 53 cases of UC and 43 control cases. ICAM-1 was expressed to a greater degree in the UC specimens. Serum ICAM-1 concentrations in the UC group showed values that were lower than those in the control group (P = 0.0081). Serum ICAM-1 concentrations were found to vary according to degree of clinical severity, activity, and affected range. Considering the cases of surgery, there was only one case in which a lowering of early postoperative values was found. In all cases in which therapeutic drugs including steroids were not administered, late postoperative values were significantly increased. ICAM-1 dynamics in UC were frequently seen in tissue and exhibited a significantly low value in blood serum; however, the influence of clinical severity, activity, diseased area, measuring time, and therapeutic drugs need further study.     

Impact of digital dermoscopy analysis on the decision to follow up or to excise a pigmented skin lesion: a multicentre study

Background: The quality of early malignant melanoma (MM) diagnosis is dependent on the experience of dermatologists, tools like dermoscopy and histopathology, and awareness and education of the studied population. Does a higher rate of excision of pigmented skin lesions (PSL) increase the rate of detected melanomas? Material and Methods: The DB‐MIPS objective tool, able to evaluate mathematical defined variables, has been used to verify the variability of measurements among PSL stored by five different centres located in Italy, Switzerland, and Germany. Results: The objective analysis showed low differences in terms of moles' features among the different groups, arguing for robustness of the dermatological patient's PSL inspection. Differences in terms of false positives and predictive positive values have been detected. The tendency to follow up a lesion was proportional to the percentage of thin MM (<0.75 mm tumour thickness), while the interventism was proportional to the percentage of dysplastic moles. Similar percentage of thin melanoma has been observed in all the centres, indicating a standardization in early diagnosing among experienced dermatologists. The main difference among the centres was their mode of action, i.e. to follow up or remove suspicious PSL. Conclusion: Interventism depends neither on the geographic site nor on the features of the observed moles. Higher removal rates do not correspond to higher MM detections: this means that an in‐depth knowledge of melanoma patterns is required and follow‐up of suspicious moles is highly suggested.     

Melanoma arising from a plaque‐type blue naevus with subcutaneous cellular nodules of the scalp

Plaque‐type blue naevus (PTBN) is a very rare variant of blue naevus (BN). The potential malignancy of subcutaneous cellular nodules (SCN) in PTBN was discovered in 2012, and there is currently no clear consensus on prognostic factors or management guidelines of such lesions. PTBN on the scalp have not been described in the literature. We report the clinical, histopathological and immunohistological features of a 50‐year‐old man who presented with a 30‐year history of scalp PTBN, with malignant proliferation of nodular elements and fatal outcome 8 years later. This case suggests that long‐term monitoring of patients with PTBN is required. Early surgical removal of such lesions should be considered, especially in the presence of any case of enlargement or change.