Common Clinical Variant Research Articles

OSSN in South India: Clinical presentation, treatment outcomes, and histopathologic correlations.

This study aimed to analyze the clinical presentation, treatment outcomes, and histopathology features of ocular surface squamous neoplasia (OSSN) in a South Indian population and correlate the area of lesions to the histopathological grade/severity of carcinoma in situ (CIN) and squamous cell carcinoma (SqCC) invasive and noninvasive tumors. The study was a retrospective cross-sectional study. The study reviewed electronic medical records (EMRs) of 99 eyes of 99 South Indian patients who underwent en bloc excision and biopsy for tumors in the corneal and conjunctival epithelium with suspicion of OSSN over 1 year from January 2019 to December 2019. Postoperatively, patients were treated with three cycles of topical 0.04% mitomycin C eye drops. Sixty-three had requisite EMR data with a follow-up period of 1 year. Patients had equal gender distribution with an age range of 28-83 years. The most common clinical variant was leukoplakic lesion, and the area of the lesion was the only predicting factor for SqCC and CIN. Bigger (T2) lesions should be strongly suspected for OSSN and promptly excised. Histopathologic analysis should be performed, and post-op topical mitomycin C or interferon alpha 2b is administered to avoid recurrence. In this study, by correlating the area of the lesion, we introduce a new variable that may aid in clinical prognostication alongside the AJCC classification.

Use of the Hospital Anxiety and Depression Scale in Patients with Oral Lichen Planus: An Institutional Experience.

Background Oral lichen planus (OLP) is a chronic inflammatory disorder affecting the oral mucosa. It commonly appears in reticular and erosive forms, among other variants that include bullous, papular, and plaque types. This condition can greatly diminish a patient's quality of life due to prevailing discomfort and anxiety. Materials and methodology A retrospective study was conducted involving patients with OLP in the Department of Oral Medicine and Radiology, Saveetha Dental College and Hospitals, Chennai, India, measuring their anxiety and depression levels using the Hospital Anxiety and Depression Scale (HADS). Patient data were extracted from the private institution's electronic data recording system from June 1, 2023, to June 30, 2024. The retrieved data also included parameters such as age, gender, chief complaint, associated comorbidities, habit history, type of clinical variant, and previous medication history. SPSS Version 26.0 (IBM Corp., Armonk, NY) was employed for data analysis, utilizing Fisher's exact tests, chi-square tests, and Mann-Whitney U tests for comparisons, with a p-value of <0.05 considered as significant. To compare proportions between groups, the chi-square test was applied, and when the expected cell frequency was less than 5, Fisher's exact test was used. Results Out of 1,500 outpatients in the department, 367 were diagnosed with OLP and 212 met the diagnostic criteria for inclusion in a one-year study (June 1, 2023, to June 30, 2024). The most frequently reported age group was 51-60 years, representing 27.4% (n = 58) of the total population, with a female predominance of around 62.7% (n = 133). Patients' associated comorbidities revealed the prevalence of Grinspan syndrome in around 9.4% (n = 20). Additionally, the habit history indicated no significant history in 92% (n = 198) of cases. The majority of the study population was symptomatic, reporting a chief complaint of burning sensation (46.2%) (n = 98). The most common clinical variant reported was reticular (53.8%) (n = 114), followed by the erosive variant (36.8%) (n = 78). Medication history revealed that triamcinolone acetonide 0.1% (42.9%) (n = 91) was the most commonly prescribed medicine, followed by prednisolone 5 mg (32.5%) (n = 69). The HADS score indicated that 48.58% (n = 103) of patients had abnormal anxiety scores (mean of 15.8 ± 2.02), while 42.4% (n = 90) exhibited abnormal depression scores (mean of 16.3 ± 2.07). Notably, patients with the erosive variant showed higher anxiety scores compared to those with the reticular variant, with an average score of 9.3 ± 1.07, with a p-value of 0.041. Conclusion The findings underscore the substantial psychological burden associated with OLP, which affects patient's emotional well-being and treatment adherence. Addressing these psychological concerns through regular assessments and supportive interventions is crucial for improving the standard of living.

Trichoscopic and Clinico-Morphological Evaluation of Tinea Capitis

Abstract Introduction: Tinea capitis (TC) is a common fungal infection of the scalp, especially in children. Trichoscopy is a noninvasive technique that allows rapid and magnified in vivo observation of the hair with the visualization of morphologic features that are often imperceptible to the naked eye. Aim: This study aimed to evaluate the usefulness of trichoscopy in clinical diagnosis and to study various clinico-morphological patterns of TC. Materials and Methods: This cross-sectional, observational study included 140 clinically diagnosed cases of TC seen during a period of 1 year (April 2021 to March 2022). All patients were evaluated using a dermoscope (DermLite DL4 Multispectral 3 Gen, San Juan Capistrano, CA, USA,10×). Results: The prevalence rate of TC in this study was 2.69 per thousand population. The most common clinical variant was gray patch followed by kerion and black dot, and the most common etiological agent was Trichophyton tonsurans. The characteristic trichoscopic features were as follows: comma hairs (80%), followed by corkscrew hairs (68.6%), bent hairs (54.2%), zigzag hairs (35.7%), and morse code-like hairs (15%). Other findings included scaling (89.2%), followed by black dot (67.1%), broken hairs (42.8%), and crusting and pustules (32.1% each). Comma and corkscrew-shaped hairs were most common in the black dot type, whereas zigzag, bent hairs, and morse code hairs were common in the gray patch type of TC. There was a significant association between trichoscopic findings and type of TC. Conclusion: Trichoscopy can be considered a novel tool for rapid diagnosis and selection of the appropriate therapy and in the monitoring of treatment efficacy in TC.

Molecular and phenotypic characteristics of Bardet-Biedl syndrome in Chinese patients

BackgroundBardet-Biedl syndrome (BBS) is a type of non-motile ciliopathy. To date, 26 genes have been reported to be associated with BBS. However, BBS is genetically heterogeneous, with significant clinical overlap with other ciliopathies, which complicates diagnosis. Disability and mortality rates are high in BBS patients; therefore, it is urgent to improve our understanding of BBS. Thus, our study aimed to describe the genotypic and phenotypic spectra of BBS in China and to elucidate genotype–phenotype correlations.MethodsTwenty Chinese patients diagnosed with BBS were enrolled in this study. We compared the phenotypes of Chinese BBS patients in this study with those from other countries to analyze the phenotypic differences across patients worldwide. In addition, genotype–phenotype correlations were described for our cohort. We also summarized all previously reported cases of BBS in Chinese patients (71 patients) and identified common and specific genetic variants in the Chinese population.ResultsTwenty-eight variants, of which 10 are novel, in 5 different BBS-associated genes were identified in 20 Chinese BBS patients. By comparing the phenotypes of BBSome-coding genes (BBS2,7,9) with those of chaperonin-coding genes (BBS10,12), we found that patients with mutations in BBS10 and 12 had an earlier age of onset (1.10 Vs. 2.20, p < 0.01) and diagnosis (4.64 Vs. 13.17, p < 0.01), whereas patients with mutations in BBS2, 7, and 9 had a higher body mass index (28.35 Vs. 24.21, p < 0.05) and more vision problems (p < 0.05). Furthermore, in 91 Chinese BBS patients, mutations were predominant in BBS2 (28.89%) and BBS7 (15.56%), and the most frequent variants were in BBS2: c.534 + 1G > T (10/182 alleles) and BBS7: c.1002delT (7/182 alleles), marking a difference from the genotypic spectra of BBS reported abroad.ConclusionsWe recruited 20 Chinese patients with BBS for genetic and phenotypic analyses, and identified common clinical manifestations, pathogenic genes, and variants. We also described the phenotypic differences across patients worldwide and among different BBS-associated genes. This study involved the largest cohort of Chinese patients with BBS, and provides new insights into the distinctive clinical features of specific pathogenic variants.

Porokeratoses-A Comprehensive Review on the Genetics and Metabolomics, Imaging Methods and Management of Common Clinical Variants.

Porokeratosis is a heterogeneous group of keratinising disorders characterised by the presence of particular microscopic structural changes, namely the presence of the cornoid lamella. This structure develops as a consequence of a defective isoprenoid pathway, critical for cholesterol synthesis. Commonly recognised variants include disseminated superficial actinic porokeratosis, disseminated superficial porokeratosis, porokeratosis of Mibelli, palmoplantar porokeratosis (including porokeratosis palmaris et plantaris disseminata and punctate porokeratosis), linear porokeratosis, verrucous porokeratosis (also known as genitogluteal porokeratosis), follicular porokeratosis and porokeratoma. Apart from the clinical presentation and epidemiology of each variant listed, this review aims at providing up-to-date information on the precise genetic background, introduces imaging methods facilitating the diagnosis (conventional and ultraviolet-induced fluorescence dermatoscopy, reflectance confocal microscopy and pathology), discusses their oncogenic potential and reviews the literature data on the efficacy of the treatment used, including the drugs directly targeting the isoprenoid-mevalonate pathway.

Clinico-mycological study of dermatophytosis in children

The picture of dermatophytosis in pediatric population is changing and requires data from different geographical locations. The present study was conducted to assess the clinico-mycological characteristics of dermatophytosis in children presenting to our department. Aim of the study was to assess the clinico-mycological characteristics of dermatophytosis in children We included patients aged 18 years or less with suspected dermatophytosis infectionand a complete physical examination of the skin, including nails and hair, was performed on all children. All the children were subjected to potassium hydroxide (KOH) examination and culture on Sabouraud’s Dextrose Agar. 150 patients were included, 104 were aged more than 10 years, 81 out of 150 were males and most common clinical variant was that of Tinea cruris (48.7%) followed by corporis (35%). KOH positive patients were fungal culture positive. Most common species on culture was Trichophyton rubrum followed by Trichophyton mentagrophyte. 55 patients were using topical corticosteroids and it was found that KOH positivity was higher among the patients not using topical corticosteroids (91.6%) n=87 compared to those using corticosteroids (67.30%) n=37.: Our study represents a changing clinical scenario of paediatric dermatophytosis in western India. Education and counselling the parents regarding hygiene practices are very important and should be included in the management strategy.

Clinical and laboratory features of autoimmune thyroiditis in subjects of the cohort according to the results of screening

Resume A retrospective analysis of the screening results was carried out (970 subjects of the cohort underwent an in-depth (4-fold) examination (at each visit: ultrasound examination of the thyroid gland, determination of the levels of thyroid-stimulating hormone (TSH) in the blood serum and antibodies to thyroid peroxidase (TPOAb), examination by an endocrinologist) for thyroid diseases. Medical examinations (visits) were carried out every 2 years.It was noted that within the cohort subjects, the most common clinical and laboratory variant of AIT was subclinical with preserved size and function of the thyroid gland or its transient decrease. The frequency of occurrence of the atrophic form of AIT is minimal (only 2/71 patients had a thyroid volume less than 6 ml) as well as the hypertrophic form (in 5/71 cases of AIT the thyroid volume exceeded 24 ml).Analysis of the combination of laboratory and instrumental criteria showed the dependence of the diagnosis of AIT on one of two examinations: Ultrasound (decreased echogenicity) or increased TPOAb. The proportion of each criterion was almost equal (echogenicity was decreased in 10 cases – 14,1%; TPOAb was increased in 16 cases – 22,5%). In most cases (43 cases – 60,6%) there was a combination of two criteria (decreased echogenicity and increased TPOAb). In one case (1,4%), against the background of an increased ratio of antibodies to thyroid peroxidase, an increased level of TSH was noted; ultrasonographic signs were normal. In the second case, against the background of decreased echogenicity of the thyroid gland and low TSH levels, ratio of antibodies to thyroid peroxidase is increased. In all cases, the patients did not report any clinical symptoms, i.e. it manifested as a subclinical form. The TSH level (in 70/71 cases) was within the normal range (0,3-4,0 mIU/l), but its level was significantly higher in patients with AIT (2,4±0,12 mIU/l) than in healthy individuals (TPOAb – normal and thyroid echogenicity – normal) 1,6±0,02 mIU/l; p&lt;0,001.The simultaneous presence of high concentrations of TPOAb in the blood serum and sono -graphic criteria of AIT, including decreased echogenicity of the thyroid gland, increases after 2 years the risk of primary hypothyroidism (PHT) by 12,8 (5,19-31,61) times (p&lt;0,001), in the case of TPOAb content in the blood serum – 29,9 IU/ml and higher, 9,4 (3,86-23,11) times – when the concentration of these autoantibodies TPOAb is more than 60 IU/ml.

Gaucher Disease in Internal Medicine and Dentistry

Gaucher disease (GD) is a lysosomal storage pathological condition, characterized by a genetic autosomal recessive transmission. The GD cause is the mutation of GBA1 gene, located on the chromosome 1 (1q21), that induces the deficiency of the lysosomal enzyme glucocerebrosidase with consequent abnormal storage of its substrate (glucosylceramide), in macrophages. The GD incidence in the general population varies from 1:40,000 to 1:60,000 live births, but it is higher in the Ashkenazi Jewish ethnicity (1:800 live births). In the literature, five different types of GD are described: type 1, the most common clinical variant in Europe and USA (90%), affects the viscera; type 2, characterized by visceral damage and severe neurological disorders; type 3, in which the neurological manifestations are variable; cardiovascular type; and, finally, perinatal lethal type. The most affected tissues and organs are the hematopoietic system, liver, bone tissue, nervous system, lungs, cardiovascular system and kidneys. Another aspect of GD is represented by oral and dental manifestations. These can be asymptomatic or cause the spontaneous bleeding, the post oral surgery infections and the bone involvement of both arches through the Gaucher cells infiltration into the maxilla and mandibular regions. The pharmacological treatment of choice is the enzyme replacement therapy, but the new pharmacological frontiers are represented by oral substrate reduction therapy, chaperone therapy, allogeneic hematopoietic stem cell transplantation and gene therapy.

A CLINICO-EPIDEMIOLOGICAL STUDY OF PSORIASIS IN TERTIARY CARE CENTRE: A RETROSPECTIVE ANALYSIS

Background: Psoriasis is an immune-mediated chronic proliferative skin disorder, predominantly involves skin, nails, and joints This research was conducted to study the clinical presentation, and management of psoriasis among patients in tertiary care hospital in South India The medical records of 257 psoriasis pati Methods: ents over the past one year (from January 2022 till December 2022) were examined by the investigators. Data were collected using a semi-structured form. Total 257 patients were Results: included in this study. Majority of patients were belonging to 50 and above age group. Male predominance (63%). Most common clinical variant was chronic plaque psoriasis (65.7%) followed by palmoplantar psoriasis (15.9%). Relapse of psoriasis was seen more among patients with a history of disease exacerbation in winter and in rainy season. Co-morbidities like diabetes mellitus and complications like PsA were associated with greater disease durations among the patients. In the current study, the proporti Conclusion: on of patients with chronic plaque psoriasis was high, most likely due to delayed diagnosis, followed by palmoplantar psoriasis and scalp psoriasis. Topical steroids for psoriasis in limited areas, oral methotrexate, and phototherapy for extensive psoriasis.

Clinico-Mycological Study of Onychomycosis in Indian Diabetic Patients

Background: Onychomycosis (OM) is the most common nail disorder accounting for 40–50% of all onychopathies. Onychomycosis is caused by dermatophytes in majority, mostly Trichophyton (T.) rubrum followed by T. mentragrophytes var. interdigitale. However, there is a variation in the etiological profile with the subset of population, time, and geographical location. In immunocompromised hosts, non-dermatophytic molds (NDMs) and yeasts like Candida albicans and Candida parapsilosis are the main causative agents. Diabetes mellitus (DM) is a well-established risk factor for OM. Aim and Objectives: This study was conducted to determine the clinical and mycological characteristics of OM in diabetic patients and to evaluate the clinico-etiological correlation, if any. Materials and Methods: Three hundred consecutive diabetic patients were screened, of whom 102 (34%) patients were diagnosed with OM based on clinical, mycological, dermoscopic, and histological criteria. Results: Distal lateral subungual onychomycosis was the most common clinical variant seen in 80 (78.43%) patients. Fungal culture was positive in 57 (55.88%) of which NDMs constituted approximately half (47.61%) of the isolates, followed by Candida species (30.15%) and dermatophytes (22.22%). The clinico-mycological correlation was performed to look for the association of various fungi with the clinical type of OM. Distal lateral subungual onychomycosis was majorly caused by NDMs (51.02%), followed by Candida species (28.57%), and dermatophytes (20.40%). Conclusion: Non-dermatophytic molds are increasingly incriminated as the causative organisms for OM in DM and must be considered as potential pathogens in the present scenario, thus necessitating the change in the treatment options accordingly.

Mapping behavioural, cognitive and affective transdiagnostic dimensions in frontotemporal dementia.

Two common clinical variants of frontotemporal dementia are the behavioural variant frontotemporal dementia, presenting with behavioural and personality changes attributable to prefrontal atrophy, and semantic dementia, displaying early semantic dysfunction primarily due to anterior temporal degeneration. Despite representing independent diagnostic entities, mounting evidence indicates overlapping cognitive-behavioural profiles in these syndromes, particularly with disease progression. Why such overlap occurs remains unclear. Understanding the nature of this overlap, however, is essential to improve early diagnosis, characterization and management of those affected. Here, we explored common cognitive-behavioural and neural mechanisms contributing to heterogeneous frontotemporal dementia presentations, irrespective of clinical diagnosis. This transdiagnostic approach allowed us to ascertain whether symptoms not currently considered core to these two syndromes are present in a significant proportion of cases and to explore the neural basis of clinical heterogeneity. Sixty-two frontotemporal dementia patients (31 behavioural variant frontotemporal dementia and 31 semantic dementia) underwent comprehensive neuropsychological, behavioural and structural neuroimaging assessments. Orthogonally rotated principal component analysis of neuropsychological and behavioural data uncovered eight statistically independent factors explaining the majority of cognitive-behavioural performance variation in behavioural variant frontotemporal dementia and semantic dementia. These factors included Behavioural changes, Semantic dysfunction, General Cognition, Executive function, Initiation, Disinhibition, Visuospatial function and Affective changes. Marked individual-level overlap between behavioural variant frontotemporal dementia and semantic dementia was evident on the Behavioural changes, General Cognition, Initiation, Disinhibition and Affective changes factors. Compared to behavioural variant frontotemporal dementia, semantic dementia patients displayed disproportionate impairment on the Semantic dysfunction factor, whereas greater impairment on Executive and Visuospatial function factors was noted in behavioural variant frontotemporal dementia. Both patient groups showed comparable magnitude of atrophy to frontal regions, whereas severe temporal lobe atrophy was characteristic of semantic dementia. Whole-brain voxel-based morphometry correlations with emergent factors revealed associations between fronto-insular and striatal grey matter changes with Behavioural, Executive and Initiation factor performance, bilateral temporal atrophy with Semantic dysfunction factor scores, parietal-subcortical regions with General Cognitive performance and ventral temporal atrophy associated with Visuospatial factor scores. Together, these findings indicate that cognitive-behavioural overlap (i) occurs systematically in frontotemporal dementia; (ii) varies in a graded manner between individuals and (iii) is associated with degeneration of different neural systems. Our findings suggest that phenotypic heterogeneity in frontotemporal dementia syndromes can be captured along continuous, multidimensional spectra of cognitive-behavioural changes. This has implications for the diagnosis of both syndromes amidst overlapping features as well as the design of symptomatic treatments applicable to multiple syndromes.

Gastroenterological masks of chronic yersiniosis in children: comprehension of experience

Chronic yersinioses are “therapeutic” infections with predominant symptoms of a somatic pathology while the typical manifestations of the infectious process are absent. Рurpose . Тo analyze the features of clinical manifestations of chronic yersinioses in children and to evaluate the eff ectiveness of diagnostic methods for detecting the disease. Characteristics of children and research methods. Laboratory confi rmation of the diagnosis of yersiniosеs was the criterion for including patients in the study group. As a result the group of patients with chronic yersiniosis infection included 131 children, 68 boys and 63 girls aged 2 years 8 months to 17 years 11 months (the average age of the group was 10 years) with typical gastroenterological pathology Laboratory confi rmation of the diagnosis of pseudotuberculosis and intestinal yersiniosis was carried out using the PCR to detect pathogenic yersinia in feces, specifi c antibodies were determined by a set of methods. Results . The article describes the clinical variants of chronic yersiniosis infections in children caused by Yersinia pseudotuberculosis and pathogenic Yersinia enterocolitica. Мost organs of the gastrointestinal tract (stomach, pancreas, liver, small and large intestines, mesenteric lymph nodes) can be aff ected in the course of chronic yersiniosis infection in children. A recurrent course of chronic yersiniosis infection is possible in children with hypogammaglobulinemia A. Conclusion . The chronic yersinioses can be suspected in the absence or insignifi cant eff ect of standard therapy of somatic pathology (gastritis, pancreatitis, irritable bowel syndrome, functional dyspepsia, etc.). The irritable bowel syndrome and functional dyspepsia are most common clinical variants of chronic yersiniosis infection in children. The immunoblotting is the most effective method to confi rm the diagnosis of chronic yersinioses.

Guillain-Barré syndrome following SARS-CoV-2 vaccination in the UK: a prospective surveillance study

ObjectiveTo investigate features of Guillain-Barré syndrome (GBS) following SARS-CoV-2 vaccines and evaluate for a causal link between the two.MethodsWe captured cases of GBS after SARS-CoV-2 vaccination through a national, open-access,...

Clinicoepidemiological characteristics of cutaneous tuberculosis in 1458 Indian patients: a retrospective analytical study from a tertiary care center.

Tuberculosis (TB) has been one of the most challenging infectious diseases globally. Cutaneous tuberculosis (CTB) accounts for 0.5-2% of extrapulmonary TB and is often missed owing to its varying morphology and paucibacillary nature. In this retrospective analytical study, we share our 22-year experience to describe the clinicoepidemiological features and treatment response of CTB in 1458 Indian patients. In each patient, detailed history was followed by clinical examination, hematological and biochemical investigations, Mantoux testing, chest x-ray, and other specialized investigations to detect coexisting systemic foci. Clinical diagnosis of CTB was confirmed on histopathology/cytology and response to standard antitubercular treatment (ATT). All details were recorded on a predesigned proforma. Of 1458 eligible patients, 803 were children. The mean disease duration was 15.3 months. Lupus vulgaris (40.4%) was the most common clinical variant, followed by scrofuloderma (32.7%) and lichen scrofulosorum (15.2%). Other variants included tuberculosis verrucosa cutis, gumma, tuberculids, and inoculation TB. Multiple clinical variants were observed in 3.6% of patients. A total of 41.4% of patients had coexistent systemic foci; in lymph nodes (50.4%), lungs (35.6%), bone (10.3%), and abdomen (5.8%). TB foci were also observed at uncommon locations like the eye, central nervous system, and genital organs. Treatment response to ATT was favorable in 99.2%. The burden of CTB still persists in developing countries. The diagnosis is often missed due to the wide spectrum of clinical and histological presentations. Awareness among clinicians of varying aspects of CTB is of paramount importance for early diagnosis and management and will significantly prevent morbidity and disease complications.

Role of co-pathology in the clinical presentation of Alzheimer's disease.

The classic most common clinical variant of Alzheimer´s Disease(AD) is the progressive amnestic-dysexecutive predominant syndrome. Atypical or focal cortical AD clinical presentations are characterized by unusual symptoms that include corticobasal syndrome(CBS), logopenic variant primary progressive aphasia(lvPPA), posterior cortical atrophy syndrome(PCA), and a frontal variant AD(fvAD). Atypical phenotypes are more frequently observed in men, at a younger age and tend to be less associated with apolipoprotein E(APOE) ɛ4 allele genotype than typical amnestic-dysexecutive cases. Atypical variants show a differential pattern of atrophy and tau accumulation but, until now, the neuropathological basis that differentiates typical from atypical AD remains unclear. The role that copathology plays in selective vulnerability of the regions affected by atypical variants remains understudied. We aimed to elucidate whether the presence, severity, or number of copathologies were associated with the clinical phenotype of AD. We searched the Neurodegenerative Diseases Brain Bank database of the University of California, San Francisco to identify cases with a primary pathological diagnosis of AD. All individuals had undergone in/depth clinical assessment, neuropsychological testing, and genotyping. The presence and number of the following copathologies were considered as a categorical or a continuous variable respectively: Lewy body disease, TDP-43 proteinopathy, argyrophilic grain disease, hippocampal sclerosis, vascular brain injury, cerebral amyloid angiopathy, and argyrophilic thorny-shaped astrocyte clusters. Copathologies we considered as ordinal according to severity. APOε4, was categorized as positive if at least one allele was present. Sociodemographic variables were also collected. We used non-parametric statistical tests to analyze the association between copathology and typical and atypical AD. In total, 137 participants were analyzed. The 45 with atypical AD were predominantly men(p=0.012), had a younger age of onset(p=0.004), and died younger(p=0.005). The presence APOε4 alleles was higher in participants with typical AD(0.012). We did not observe any associations when copathology was tested against the clinical phenotype as a dichotomic variable or a continuous one (Table 1) or severity (Figure 1). Copathology did not show an association with the clinical phenotype of AD. Age of onset and APOε4 status showed to be more related to selective vulnerability of brain regions of patients with atypical AD.

The clinical course of cutaneous mastocytosis in a prospective group of 163 children according to electronic parent survey

Introduction. Mastocytosis occurs due to clonal mast cells proliferation and may have different clinical course. As the disease only rarely occurs in pediatric population there are very few clinical observations describing its symptoms, prognosis and therapy response in pediatric cohorts.Aim of the study — characterization of gender, sympthoms, prognosis and therapy in children with mastocytosis using data obtained by electronic parent survey.Methods. The study data was collected from November 2014 till August 2020 from parents referring for consultation of hematologist via “Vkontakte” social network. All parents completed two surveys. The first one was performed right after the referral, the second one was performed from May 2020 to August 2020. The data on age at symptoms onset, family history, symptoms, rash distribution, serum tryptase concentrations, sunlight sensitivity and clinical course was obtained and analyzed.Results. The data on 163 children was obtained, 86 (52.7 %) of them were boys and 77(47.3 %) were girls. The median age was 6 (0.5—22) years. At the end of survey the median observation time was 61.5 (2—276) months. The most common mastocytosis clinical variant was urticaria pigmentosa (n = 129; 79.1 %), mastocytoma in 18 (11 %) and in 15 (9.9 %) an unknown variant was observed. The diagnosis was based on skin biopsy in 19 patients (11.6 %). Characteristic symptoms were seen in 123 (75.4 %) children. The main complaints were skin reaction triggered by various factors (n = 89; 72.3 %) and itching (n = 78; 63.4 %). Most patients took antihistamines (n = 64; 61 %) and ketotifen (n = 22; 21 %). The second survey was conducted in 139 (85.2 %) pts. At the time of survey symptoms progression was seen in 4 (2.9 %) patients, while in 42 (30.2 %) cases stabilization, and in 93 (66.9 %) cases improvement were observed.Conclusion. The symptoms onset mostly occurs in the first year of life. Most frequents symptoms are itching and rash in response to various triggers. Antihistamine drugs led to symptoms mitigation. The clinical course is benign in most children.

A cross-sectional observational study of clinicodermatoscopic features in cutaneous lichen planus in Indian skin

Background: Lichen planus (LP) is a papulosquamous skin disorder characterized by violaceous polygonal papules and plaques associated with itching. Dermoscopy in LP shows variable forms of whitish structures that correlate with Wickham striae (WS), vascular structures, and pigmentary changes that aid in its diagnosis. Aim: To study the correlation between clinical and dermatoscopic features in cutaneous variants of LP in Indian skin. Method: Patients with LP presenting over a period of 1 year were included. Dermoscopy of the lesions in polarized mode was done using video dermatoscope − Dino-Lite Premier AM4113ZT model. Both clinical and dermoscopy findings were photographed, recorded, and studied. Result: Fifty-six percent patients (39/70) had classical LP (CLP), 14% patients (10/70) had hypertrophic LP which were the most common clinical variants. Reticulate pattern of WS was the most common pattern observed in 40% (28/70) cases and a new rosette pattern of WS was observed in 13% (9/70) cases. Nonvascular findings such as WS, comedo-like openings, and grey blue dots showed statistically significant association with CLP. Among the pigmentary findings, pepper-like pigmentation was seen in 64% (25/39) CLP and reticulate pattern of pigmentation in 85% (6/7) cases of LP pigmentosus. Perifollicular pigmentation showed statistical significance in 100% cases of lichen planopilaris. Conclusion: In view of consistent dermoscopic features observed in LP, it aids as a valuable noninvasive diagnostic tool, many a times obviating the need for skin biopsy. Limitations: Small sample size and the exclusion of lesions of LP over the nails, genitals, and oral mucosa.

Clinical variants of mycosis fungoides in a cohort.

Mycosis fungoides (MF) is the most common primary skin T-cell lymphoma, which is characterized for a heterogeneous clinical expressivity. To report clinical variants and sociodemographic characteristics in patients with MF under the care of a dermatological hospital. 290 patients with MF clinical and histopathological diagnosis attended to over the course of 11 years were included. Sociodemographic description of patients was made, who were classified according to clinical and histopathological variants. MF was recorded in 57.9 % of women and 42 % of men. The most common clinical variant was the classic type in 46.2 %; dyschromic variants accounted for 35.2 %, out of which hypopigmented MF was the most representative (17.6 %); poikilodermatous MF accounted for 4.1 %, and folliculotropic, for 3.1%. The papular variant occurred in six patients (2.1 %), the single-plaque variety in three (1%), and the ichthyosiform, syringotropic and granulomatous slack skin varieties occurred in one patient each. The granulomatous variant was found in 0.7 %, and 1.4 % had erythroderma. The most common MF clinical variant was classic plaque stage, followed by dyschromic variants. Other clinical variants accounted for 18.6 %.

The Role of Frontal Assessment Battery and Frontal Lobe Single-Photon Emission Computed Tomography in the Differential Diagnosis of Progressive Supranuclear Palsy Variants and Corticobasal Syndrome—A Pilot Study

Progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS) are clinical syndromes classified as atypical parkinsonism. Due to their overlapping symptomatology, recent research shows the necessity of finding new methods of examination of these clinical entities. PSP is a heterogenic disease. PSP Richardson-Steele Syndrome (PSP-RS) and parkinsonism predominant (PSP-P) are the most common clinical variants of progressive supranuclear palsy syndrome. The different clinical course and life expectancy of PSP-RS and PSP-P stress the need of efficient examination in the early stages. The aim of the study was to evaluate the possible feasibility of the combined use of frontal assessment battery (FAB) and single-photon emission computed tomography (SPECT) in the differentiation of PSP-RS, PSP-P, and CBS. The findings show that FAB may be interpreted as a possible supplementary tool in the differential diagnosis of PSP-P and PSP-RS. The differences in SPECT are less pronounced. The study does not show any advantages of performing combined frontal SPECT and FAB in the differential examination of PSP and CBS. Moreover, PSP-RS and CBS, in a detailed evaluation of the frontal lobe, do not show any significant differences. This is a relatively small study which, however, highlights the relevant features of clinical examination of these rare entities.

Efficacy of long-term prednisone therapy in patients with chronic inflammatory demyelinating polyneuropathy (CIDP): a retrospective cohort study.

Patients with CIDP respond adequately to steroid therapy and intravenous immunoglobulin (IVIG). However, few patients have access to IVIG in developing countries. Little information exists about the clinical response to steroid therapy in Latin American countries. to describe the long-term functional clinical response (24 months) to prednisone therapy in CIDP patients. A retrospective cohort was conducted. Selection included patients with definitive CIDP diagnosis according to European criteria from the Neuromuscular Diseases clinic of the National Institute of Neurology and Neurosurgery between January 2016 and December 2020. Good response to steroid therapy was defined as with improvement in at least one point on the GBS disability score. Poor response to steroid therapy was defined as patients who did not show improvement in at least one point on the GBS disability score. Patients were evaluated at 3, 6, 12, 18 and 24 months. Forty-seven patients with CIDP were included. Half of them were male and mean age was 46±15 years. Mean time since symptom onset to diagnosis was 6 (IQR 2-12) months. The most common clinical variant was sensory-motor 57.4%, followed by acute-onset CIDP 21.3% and atypical variants 21.2%. At diagnosis our patients presented: mean GBS disability score of 3 (2.25-4) points, MRC score 39.5 ± 12 points, independent gait in 17%, mean prednisone dose of 50 mg (32.5-50). Twenty-four months after prednisone therapy, a less mean GBS disability score -1(0-2) points-, mean MRC score 56.3 ± 5.1 points, independent gait 93% and prednisone dose 1 (0-5) mg. Patients with poor three-month functional clinical response had a delay in diagnosis > 6 months (64.7% vs 27.5%) and atypical clinical variants (47% vs 6.8%). CIDP patients treated with prednisone have good long-term functional clinical response. Delay in diagnosis and atypical variant are common clinical characteristics for poor functional clinical response in treatment with prednisone.