ABSTRACT
BACKGROUND: Cold urticaria (ColdU), that is, the occurrence of wheals or angioedema in response to cold exposure, is classified into typical and atypical forms. The diagnosis of typical ColdU relies on whealing in response to local cold stimulation testing (CST). It can also manifest with cold-induced anaphylaxis (ColdA). We aimed to determine risk factors for ColdA in typical ColdU. METHODS: An international, cross-sectional study COLD-CE was carried out at 32 urticaria centers of reference and excellence (UCAREs). Detailed history was taken and CST with an ice cube and/or TempTest® performed. ColdA was defined as an acute cold-induced involvement of the skin and/or visible mucosal tissue and at least one of: cardiovascular manifestations, difficulty breathing, or gastrointestinal symptoms. RESULTS: Of 551 ColdU patients, 75% (n = 412) had a positive CST and ColdA occurred in 37% (n = 151) of the latter. Cold-induced generalized wheals, angioedema, acral swelling, oropharyngeal/laryngeal symptoms, and itch of earlobes were identified as signs/symptoms of severe disease. ColdA was most commonly provoked by complete cold water immersion and ColdA caused by cold air was more common in countries with a warmer climate. Ten percent (n = 40) of typical ColdU patients had a concomitant chronic spontaneous urticaria (CSU). They had a lower frequency of ColdA than those without CSU (4% vs. 39%, p = .003). We identified the following risk factors for cardiovascular manifestations: previous systemic reaction to a Hymenoptera sting, angioedema, oropharyngeal/laryngeal symptoms, and itchy earlobes. CONCLUSION: ColdA is common in typical ColdU. High-risk patients require education about their condition and how to use an adrenaline autoinjector.
Subject(s)
Angioedema , Chronic Urticaria , Hymenoptera , Insect Bites and Stings , Urticaria , Angioedema/diagnosis , Angioedema/epidemiology , Angioedema/etiology , Animals , Cold Temperature , Cross-Sectional Studies , Humans , Insect Bites and Stings/complications , Pruritus/complications , Risk Factors , Urticaria/diagnosis , Urticaria/epidemiology , Urticaria/etiologyABSTRACT
BACKGROUND: Primary lymphoedema is a rare genetic disorder characterized by swelling of different parts of the body and highly heterogenic clinical presentation. Mutations in several causative genes characterize specific forms of the disease. FOXC2 mutations are associated with lymphoedema of lower extremities, usually distichiasis and late onset. PATIENTS AND METHODS: Subjects from three generations of a family with lymphoedema of lower limbs without distichiasis were searched for mutations in the FOXC2 gene. RESULTS: All affected family members with lymphoedema of lower limbs without distichiasis, and still asymptomatic six years old girl from the same family, carried the same previously unreported insertion of adenosine (c.867insA) in FOXC2. CONCLUSIONS: Identification of a novel mutation in the FOXC2 gene in affected family members of three generations with lymphoedema of lower limbs without distichiasis, highlights the high phenotypic variability caused by FOXC2 mutations.
ABSTRACT
To better understand the natural history of anogenital warts (AGWs) and the dynamics of HPV6/11 infection in regional hairs, 32 newly diagnosed male patients with AGWs and 32 age-matched healthy controls were closely followed. During enrollment and six follow-up visits (every 2.6 months), 43 AGW tissues and 1232 anogenital and eyebrow hair samples were collected. This is the closest longitudinal monitoring of AGW patients to date. Patients were treated according to standards of care. The HPV6/11 prevalence was 19.9% in the patients' hair samples (HPV6 B1 in 53.1%) and 0% in the controls. The highest HPV6/11 prevalence was found in pubic hairs (29.0%) and the lowest in eyebrows (7.1%). The odds of having HPV6/11-positive hairs increased with smoking, shaving the anogenital region, and age. A close association between HPV6/11 presence in hairs and clinically visible AGWs was observed. The proportion of patients with visible AGWs and HPV6/11-positive hairs declined during follow-up with similar trends. No particular HPV6/11 variant was linked with an increased AGW recurrence, but the sublineage HPV6 B1 showed significantly higher clearance from hairs. Despite treatment, 78.1% and 62.5% of the AGW patients experienced one and two or more post-initial AGW episodes, respectively. The patients with HPV6/11-positive hairs or visible AGWs at a preceding visit demonstrated substantially higher odds of presenting with visible AGWs at a subsequent visit.
ABSTRACT
Next spring, we will celebrate 30 years since the first issue of Acta Dermatovenerologica Alpina, Pannonica et Adriatica (Acta Dermatovenerol APA) was published and, to our astonishment and disappointment, it seems that the goal we have long awaited (and worked hard for)-obtaining an official impact factor (IF)-is nowhere in sight. Every application for an IF has been met with various reasons why our journal does not fulfill the criteria for inclusion in the Science Citation Index Expanded (SCIE). Given the highly non-transparent evaluation process, we conclude that there probably really is no room for small and independent journals in the world of publishing giants and commercial interests. Although disheartened, we will continue our long-established tradition of providing open-access and quality content in dermatology and sexually transmitted infections for researchers and clinicians in the region and worldwide because science should be open and committed to teamwork.
ABSTRACT
Fish tank granuloma is a rare skin infection caused by Mycobacterium marinum. It occurs after exposure of skin abrasions to contaminated water or infected fish. The majority of M. marinum infections today are fish tank-related. The most common presentation is a solitary nodule, often with sporotrichoid spread. Other presentations do not occur often. The diagnosis is often delayed because of lack of suspicion, nonspecific histopathological findings, and frequently unsuccessful cultivation. Here we present the case of a 37-year-old male with M. marinum skin infection, presenting as erythematous scaling plaques. Because the initial results of laboratory and histopathological examinations were negative for a fungal infection or nontuberculous mycobacteria, the patient was treated empirically with several systemic antibiotics and antifungals without any success. Finally, the diagnosis of fish tank granuloma was confirmed 3 months after the initial presentation of the patient. After the introduction of treatment with rifampicin and clarithromycin, complete clinical remission was observed after 6 months of therapy.
Subject(s)
Mycobacterium Infections, Nontuberculous , Mycobacterium marinum , Skin Diseases, Bacterial , Adult , Animals , Anti-Bacterial Agents/therapeutic use , Hand Dermatoses , Humans , Male , Mycobacterium Infections, Nontuberculous/diagnosis , Mycobacterium Infections, Nontuberculous/drug therapy , Skin Diseases, Bacterial/diagnosis , Skin Diseases, Bacterial/drug therapy , TineaABSTRACT
BACKGROUND: Darier disease (DD) is an autosomal dominant genodermatosis caused by mutations in the ATP2A2 gene. It has been reported that depletion of Ca(2+) stores within the endoplasmic reticulum of keratinocytes is associated with impaired cell cycle regulation and terminal differentiation. Mechanical stress, heat, or UV irradiation might delay cell cycle exit and permit progression into the quiescent stage without repair. When there is associated DNA damage, this can lead to an accumulation of secondary somatic mutations and possible clonal proliferation of damaged keratinocyes within keratotic papules and plaques. OBJECTIVE: We sought to present clinical, demographic, and genetic analysis of the cohort of Slovenian patients with DD, which represents 52% of DD patients in the country. METHODS: We examined 28 Slovenians with DD and screened genomic DNA for ATP2A2 mutations and RNA for splice site mutations. RESULTS: The estimated prevalence of the disease in Slovenia is 2.7/100.000. We identified 7 different ATP2A2 mutations, 4 of which are novel: A516P, R559G, 463-6del6, and 1762-6del18. We also found two previously described polymorphisms in intron XVIII (2741 + 54 G>A) and in exon 15 (2172 G>A; A724A), with allele frequencies of 64.15% and 11.32%, respectively. There was a history of perceptive deafness in two DD patients from two families. LIMITATIONS: Analysis of SERCA2 expression, measurements of Ca(2+) uptake and their influence on desmosomal assembly in vitro would add additional value to the study. Although single-stranded conformational analysis (SSCP) is a common and accepted method for screening for the presence of mutations, it does miss 10% to 20% of mutations. CONCLUSIONS: We identified 4 novel ATP2A2 mutations in Slovenian patients with DD. Deafness seems to be a new phenotypic characteristic of DD patients.
Subject(s)
Darier Disease/genetics , Sarcoplasmic Reticulum Calcium-Transporting ATPases/genetics , Adult , Aged , Deafness/genetics , Female , Humans , Male , Mutation , Pedigree , Polymorphism, Single-Stranded Conformational , SloveniaABSTRACT
The term lymphedema refers to a chronic, progressive edema, usually of a limb, due to insufficient lymphatic flow. It may appear as a primary disturbance or secondary to other causes, e.g., after infections or surgery. The most common cause of lymphedema in the Western world is cancer surgery and/or radiotherapy. The authors summarize the etiology, pathophysiology and clinical staging of lymphedema. The diagnosis of lymphedema is usually based on history and clinical appearance. However, lymphoscintigraphy is the gold standard of imaging in doubtful cases. Adequate and early compression therapy and good patient compliance are the cornerstones of management of lymphedema. The authors present their experience with compression therapy for lymphedema. While no differences were found in the efficiency of compression therapy between oncologic and non-oncologic patients, compression stockings of class III seemed to be efficient in the majority of secondary lower limb lymphedemas but not as maintenance therapy for primary lower limb lymphedema.
Subject(s)
Lymphedema/therapy , Pressure , Adult , Aged , Female , Humans , Lymphedema/etiology , Male , Middle Aged , Stockings, CompressionABSTRACT
Background: Assessment of human papillomavirus (HPV) type-specific viral load (VL) is a valid tool for determining the etiology of HPV-related skin tumors, especially when more than one HPV type is detected within one lesion. Methods: The causative HPV type was determined in 185 fresh-frozen tissue specimens of histologically confirmed common warts (CWs) collected from 121 immunocompetent patients. All tissues were tested using the type-specific quantitative real-time polymerase chain reactions (PCR) for the most common wart-associated Alpha-PV (HPV2/27/57) and Mu-PV types (HPV1/63/204). The presence of 23 additional low-risk HPVs was evaluated using a conventional wide-spectrum PCR. Results: HPV DNA was detected in 176/185 (95.1%) CWs and multiple HPV types in 71/185 (38.4%) lesions. Using the VL approach and a robust cutoff of one viral copy/cell established in this study, HPV2/27/57 were determined as causative agents in 41/53 (77.3%) and 53/71 (74.7%) CWs with single and multiple HPVs, respectively. Conclusions: CWs are mostly etiologically associated with HPV2/27/57 and only rarely with HPV1. In the majority of CWs containing multiple HPVs, a single HPV type was present in high concentration, indicating etiological association. No significant differences in VLs of lesion-causing HPV types in CWs containing single or multiple HPVs were found.
Subject(s)
Alphapapillomavirus/classification , Alphapapillomavirus/isolation & purification , Papillomaviridae/classification , Papillomaviridae/isolation & purification , Warts/virology , Adolescent , Adult , Aged , Alphapapillomavirus/physiology , Child , Child, Preschool , DNA, Viral/analysis , Female , Human Papillomavirus DNA Tests , Humans , Male , Middle Aged , Mupapillomavirus/classification , Mupapillomavirus/isolation & purification , Mupapillomavirus/physiology , Papillomaviridae/physiology , Real-Time Polymerase Chain Reaction , Viral Load , Young AdultABSTRACT
BACKGROUND: Hereditary palmoplantar keratodermas (HPPK) are relatively frequent in Slovenia; however, the papulosa type of HPPK is rare. Epidemiological data are scarce; a population study in Croatia revealed a prevalence of 1.17/100,000 inhabitants. According to the preliminary data, it seems that HPPK papulosa is more common in Slovenia than in other countries. Efforts were made to identify all patients with HPPK papulosa in Slovenia. PATIENTS AND METHODS: Existing hospital and outpatient records served as a starting point. Patients and their relatives were invited for examination. When necessary for preparing pedigrees, we visited patients. RESULTS: Altogether 66 patients were observed, giving a prevalence of 3.3/100,000 inhabitants. 62 patients belonged to 11 unrelated families with two or more affected members and there were also four isolated cases. Our investigation points to an autosomal dominant mode of inheritance. All of the routine biochemical and hematologic tests were within normal limits. No malignancies were observed, nor were such data revealed in patients' histories. Thickened nail-plates were observed in three patients. CONCLUSIONS: The prevalence of HPPK papulosa in Slovenia is higher than in other countries studied. Further loci mentioned in literature suggest a genetic heterogeneity in this condition.
Subject(s)
Keratoderma, Palmoplantar/epidemiology , Adult , Female , Humans , Keratoderma, Palmoplantar/genetics , Male , Prevalence , Slovenia/epidemiology , Young AdultABSTRACT
INTRODUCTION: Journal bibliometric indicators are useful tools in assessing the characteristics, development history, and future trending of a particular medical journal. Moreover, they can help potential authors when deciding which journal to submit their work to in order to achieve the highest visibility. METHODS: A single journal study of the medical journal Acta Dermatovenerologica Alpina, Pannonica et Adriatica (ADAPA) from January 1994 to July 2019 was performed. The corpus was harvested from the bibliographical database Scopus (Elsevier, Netherlands) for the period between 1994 and 2019 (inclusive), and the bibliometric analysis was performed using Scopus built-in services and MS Excel (Microsoft, USA). The historical, cooperation, and hot topic analysis was performed on scientific landscapes induced by VOSviewer software (Leiden University, Netherlands). RESULTS: From 1994 to 2019, a total of 759 publications were published in ADAPA. The trend in the number of publications has varied; it increased somewhat until 2009, then decreased until 2015, when the number of articles began to rise again, reaching a peak in 2018 (46 articles annually). A small decline in source normalized impact per paper (SNIP) was observed from 1.2 in 2010 to 0.46 in 2018. Slovenia ranked first (n = 210) in the number of publications among 55 countries. Authors from 44 out of 55 countries published their articles through co-authorships. CONCLUSIONS: Whereas it was initially considered a primarily regional journal, ADAPA's influence has gradually broadened and the journal has become truly international. The number of articles published increased significantly during the last few years, with ADAPA strongly supporting international collaboration, resulting in a high proportion of international co-authorships.
Subject(s)
Dermatology , Periodicals as Topic , Venereology , History, 20th Century , History, 21st Century , Periodicals as Topic/history , Publishing/statistics & numerical data , SloveniaABSTRACT
A 72-year-old female patient presented with an end-stage renal disease on on-line hemodiafiltration and warfarin therapy with advanced ulcerated calciphylaxis on the lower extremities, complicated by two episodes of cellulitis. She was successfully treated for 8 months with intravenous sodium thiosulfate in combination with modification of medication and dialysis treatment, careful wound care, and other supportive measures. Calciphylaxis is an uncommon life-threatening systemic disease, mostly occurring in patients with chronic kidney disease and other risk factors. Vascular calcifications and inflammation lead to thrombotic occlusions of the cutaneous and subcutaneous arterioles, which provoke livedoid painful plaques with possible progression to necrotic ulcers. Conventional treatment is supportive. In recent decades, off-label treatment with sodium thiosulfate, a potent calcium chelator, antioxidant, and vasodilator, has been increasingly reported to be highly efficient in calciphylaxis, leading to significantly lower mortality rates. Knowledge of advancement in the treatment of calciphylaxis, which was previously a highly fatal disease, is important for physicians and other professionals from various medical fields.
Subject(s)
Calciphylaxis/complications , Calciphylaxis/pathology , Kidney Failure, Chronic/drug therapy , Kidney Failure, Chronic/etiology , Nephrocalcinosis/etiology , Thiosulfates/therapeutic use , Aged , Calciphylaxis/physiopathology , Female , Follow-Up Studies , Humans , Infusions, Intravenous , Kidney Failure, Chronic/physiopathology , Leg Ulcer/etiology , Leg Ulcer/pathology , Leg Ulcer/physiopathology , Nephrocalcinosis/physiopathology , Rare Diseases , Renal Dialysis/methods , Risk Assessment , Severity of Illness Index , Slovenia , Treatment OutcomeABSTRACT
Cutaneous larva migrans is a frequent phenomenon endemic in tropical and subtropical countries. In Europe only sporadic cases are reported. We present two cases of cutaneous larva migrans in two Slovenian tourists returning from a vacation in Brazil.
Subject(s)
Larva Migrans/diagnosis , Adult , Brazil , Humans , Male , Slovenia , TravelABSTRACT
Autoimmune diseases may also be reflected in changes in the oral cavity that represent the first sign of the disease, or they may occur simultaneously with or later in the course of the disease. Oral findings are mostly non-specific, and therefore further investigations are needed to exclude or confirm possible diagnoses. This article presents the most important diseases in this research area, divides them into meaningful groups, and highlights the importance of examining the oral cavity for possible manifestations.
Subject(s)
Autoimmune Diseases/complications , Autoimmune Diseases/diagnosis , Hereditary Autoinflammatory Diseases/complications , Mouth Diseases/epidemiology , Mouth Diseases/etiology , Mouth Mucosa/pathology , Female , Hereditary Autoinflammatory Diseases/diagnosis , Humans , Incidence , Male , Mouth Diseases/physiopathology , Mouth Mucosa/physiopathology , Risk Assessment , Severity of Illness Index , Slovenia/epidemiologyABSTRACT
Molluscum contagiosum virus (MCV) is the sole member of the Molluscipoxvirus genus and the causative agent of molluscum contagiosum (MC), a common skin disease. Although it is an important and frequent human pathogen, its genetic landscape and evolutionary history remain largely unknown. In this study, ten novel complete MCV genome sequences of the two most common MCV genotypes were determined (five MCV1 and five MCV2 sequences) and analyzed together with all MCV complete genomes previously deposited in freely accessible sequence repositories (four MCV1 and a single MCV2). In comparison to MCV1, a higher degree of nucleotide sequence conservation was observed among MCV2 genomes. Large-scale recombination events were identified in two newly assembled MCV1 genomes and one MCV2 genome. One recombination event was located in a newly identified recombinant region of the viral genome, and all previously described recombinant regions were re-identified in at least one novel MCV genome. MCV genes comprising the identified recombinant segments have been previously associated with viral interference with host T-cell and NK-cell immune responses. In conclusion, the two most common MCV genotypes emerged along divergent evolutionary pathways from a common ancestor, and the differences in the heterogeneity of MCV1 and MCV2 populations may be attributed to the strictness of the constraints imposed by the host immune response.
Subject(s)
Genome, Viral , Genomics , Molluscum Contagiosum/virology , Molluscum contagiosum virus/genetics , Chemotaxis/immunology , Computational Biology/methods , Evolution, Molecular , Genetic Variation , Genomics/methods , Genotype , High-Throughput Nucleotide Sequencing , Humans , Immunity , Killer Cells, Natural/immunology , Killer Cells, Natural/metabolism , Molecular Sequence Annotation , Molluscum Contagiosum/immunology , Molluscum contagiosum virus/immunology , Mosaicism , Phylogeny , Recombination, Genetic , T-Lymphocytes/immunology , T-Lymphocytes/metabolism , Viral LoadABSTRACT
Molluscum contagiosum (MC) manifests as small, umbilicated papules caused by the molluscum contagiosum virus (MCV). The extent of clinical misdiagnosis of MC is unknown. Combined clinical, histopathological, and virological evaluation of 203 consecutive patients with clinical diagnosis of MC treated at a university hospital during a 5-year period showed the correct clinical diagnosis in 188 of 203 (92.6%) patients. All 15 clinically misdiagnosed MC lesions were histopathologically and virologically confirmed as either common or anogenital warts caused by different human papillomaviruses. The MCV1/MCV2 subtypes ratio was 1.54:1, and the distribution of MCV subtypes differed across patients' age and anatomical location of lesions.
ABSTRACT
INTRODUCTION: Data on the effectiveness of biologics in the treatment of nail and scalp psoriasis (PSO) in a routine clinical setting are scarce. The aim of this study was therefore to evaluate the effectiveness of adalimumab in the treatment of nail and scalp psoriatic lesions in routine dermatologic practice. METHODS: Five hundred one patients were analyzed in this observational study; 157 patients had nail involvement (nail PSO set; NPS) and 404 had scalp involvement (scalp PSO set; SPS). Patients treated with adalimumab were observed for up to 12 months. Outcomes were evaluated via changes in the Nail Psoriasis Severity Index (NAPSI), Psoriasis Scalp Severity Index (PSSI), Psoriasis Area and Severity Index (PASI), and QoL (using the Dermatology Life Quality Index). RESULTS: Eighty-four percent of the patients in the NPS and 93.8% in the SPS achieved a good clinical response upon treatment with adalimumab. Complete clearing of local symptoms was achieved by 33.3% of the patients with nail involvement and 66.7% of the patients with scalp involvement. There was also a marked improvement in QoL. CONCLUSION: Adalimumab appears to be an effective treatment for scalp and nail PSO in patients with moderate to severe plaque PSO. No new clinical concerns were established.
Subject(s)
Adalimumab/therapeutic use , Anti-Inflammatory Agents/therapeutic use , Nail Diseases/drug therapy , Psoriasis/drug therapy , Scalp Dermatoses/drug therapy , Adult , Female , Humans , Male , Middle Aged , Quality of Life , Severity of Illness Index , Treatment OutcomeABSTRACT
BACKGROUND: Previous studies carried out in Slovenia revealed a high frequency of cases of hereditary diffuse palmoplantar keratodermas (DPPK). The relatively small total population of about two million in a small territory and an efficient public health service were favorable preconditions for such a study. METHODS: Existing hospital and outpatient department records served as starting points. Patients were invited to come for a follow-up examination, and visiting the patients at their homes enabled us to gather further data. Thus efforts were made to include all patients with hereditary DPPK in Slovenia. RESULTS: Altogether 170 DPPK patients were detected, giving a prevalence of 8.3 per 100,000 inhabitants. The patients originated from remote, mostly mountainous districts, where the local DPPK prevalence highly significantly exceeded the average Slovene prevalence. The segregation ratio showed an autosomal dominant mode of inheritance. The percentage of persons affected was 34.4% (95% confidence interval 29.8-39.4), lower than expected for autosomal dominant inheritance (the difference is highly significant, P < 0.00001; exact binomial test). CONCLUSION: One autosomal dominant gene alone does not fully explain the transmission of the disorder to siblings. Evidence is produced that additional factors are necessary for the transmission of this genetic condition. The degree of consanguinity and the physical pressure on palms and soles seem to play an important part. It is reasonable to expect that molecular-biology studies linked to the epidemiological data could contribute to the solution of the problem.
Subject(s)
Keratoderma, Palmoplantar, Diffuse/congenital , Keratoderma, Palmoplantar, Diffuse/epidemiology , Risk Assessment/methods , Rural Population/statistics & numerical data , Genetic Predisposition to Disease/epidemiology , Genetic Predisposition to Disease/genetics , Humans , Keratoderma, Palmoplantar, Diffuse/genetics , Population Surveillance , Prevalence , Risk Factors , Slovenia/epidemiologySubject(s)
Hyperpigmentation/diagnosis , Lichenoid Eruptions/diagnosis , Prurigo/diagnosis , Skin Diseases, Vesiculobullous/diagnosis , Adult , Anti-Bacterial Agents/therapeutic use , Diagnosis, Differential , Doxycycline/therapeutic use , Drug Administration Schedule , Humans , Hyperpigmentation/drug therapy , Hyperpigmentation/pathology , Keratinocytes/pathology , Lichenoid Eruptions/drug therapy , Lichenoid Eruptions/pathology , Male , Necrosis , Prurigo/drug therapy , Prurigo/pathology , Skin/pathology , Skin Diseases, Vesiculobullous/drug therapy , Skin Diseases, Vesiculobullous/pathology , ThoraxABSTRACT
BACKGROUND: Mycobacterium marinum is a human opportunistic pathogen that is known to inhabit swimming pools, home aquariums, and natural bodies of salt and fresh water. Epidemic cases involving swimming pools are easily recognized, but sporadic cases are frequently misdiagnosed. OBJECTIVE: A 42-year-old male presented with a 2-month history of the appearance of livid, verrucous, painless nodules on his right upper extremity. He had cleaned an aquarium with tropical fish for the past 2 years. METHODS: A histopathological examination suggested a granulomatous inflammation. After incubation on Löwenstein-Jensen medium, Mycobacterium marinum was identified using biochemical methods and the PCR technique. RESULTS: Systemic therapy with rifampicin, ethambutol, and clarithromycin over a period of 6 months led to complete resolution of the skin lesions with some residual scars. CONCLUSION: Knowledge of this condition is very important to avoid unnecessary diagnostic procedures and improper treatment.