Impact of climate change on atopic dermatitis: A review by the International Eczema Council.

Atopic dermatitis (AD), the most burdensome skin condition worldwide, is influenced by climatic factors and air pollution; however, the impact of increasing climatic hazards on AD remains poorly characterized. Leveraging an existing framework for 10 climatic hazards related to greenhouse gas emissions, we identified 18 studies with evidence for an impact on AD through a systematic search. Most climatic hazards had evidence for aggravation of AD the impact ranged from direct effects like particulate matter-induced AD exacerbations from wildfires to the potential for indirect effects like drought-induced food insecurity and migration. We then created maps comparing the past, present, and future projected burden of climatic hazards to global AD prevalence data. Data are lacking, especially from those regions most likely to experience more climatic hazards. We highlight gaps important for future research: understanding the synergistic impacts of climatic hazards on AD, long-term disease activity, the differential impact on vulnerable populations, and how basic mechanisms explain population-level trends.

Idiopathic Hypereosinophilic Syndrome Presenting with Recalcitrant Oral and Genital Ulcers Responding Well to Thalidomide.

Hypereosinophilic syndrome is a myeloproliferative disorder characterized by abnormal accumulation of eosinophils in the blood or peripheral tissues. It is uncommonly seen in children. We describe a 14-year-old girl diagnosed with idiopathic hypereosinophilic syndrome presenting with recurrent, painful oral and genital ulcers, hepatosplenomegaly along with consistently high eosinophil count and leucocytosis. Genetic studies showed negative for FIPIL-PDGFRA fusion gene. Mucosal ulcers were recalcitrant to conventional therapy and responded well to thalidomide.

Infantile Systemic Hyalinosis Presenting as Pseudo-Paralysis in Infancy: Study of Six Cases.

Infantile systemic hyalinosis is a very rare fatal autosomal recessive genetic disorder with a mutation in capillary morphogenesis gene-2- CMG2 /Human anthrax toxin-2 ANTXR2 resulting in spindle cell proliferation, altered collagen metabolism along with extensive deposition of hyaline material in the skin and several tissues. To date only a few cases have been reported in the literature, hence we reported this series. This study is a retrospective chart review of infants diagnosed with infantile systemic hyalinosis from January 2015 through December 2020 at a tertiary care children's hospital in South India. The mean age of presentation was 9.4 months, with a male to female ratio of 1:5. All children were born of consanguineous marriage except one child. All children had symptoms at birth, painful limb movements, multiple joint stiffness, gingival thickening, skin lesions around perianal, perioral areas, and frog-like position. Three (50%) children had stiff skin. Routine tests including complete blood count, liver function test, renal function test, creatine phosphokinase, nerve conduction studies, and metabolic tests were normal in all children. Skin biopsy showed hyalinized collagenous tissue in the dermis. Genetic study results of two cases revealed pathogenic variants in ANTXR2 gene. Infantile systemic hyalinosis should be considered in infants presenting with painful limb movements. The diagnosis helped in avoiding unnecessary investigations and prognostications. The genetic information from proband mutation helped in prenatal diagnosis in two families.

KIT Gene Mutation Causing Piebaldism Associated with Multiple Café Au-Lait Like Macules and Freckling: Delineating a Cause of this Coexistence.

Piebaldism is a rare genetic disorder of congenital leukoderma caused by mutation in KIT proto-oncogene receptor tyrosine kinase. We present a 10-year-old boy with congenital depigmented macules suggestive of piebaldism associated with café au lait macules and skin fold freckling complicating the diagnosis. A diagnosis of piebaldism was made via exome sequencing that showed a pathogenic variant of KIT gene with no pathogenic variants of NF1 or SPRED1 gene. Our current understanding of the KIT tyrosine kinase function may provide a better explanation into this phenotypic coexistence and does not necessarily represent an overlap with Neurofibromatosis type 1.

Automatic segmentation and quantified analysis of meibomian glands from infrared images.

Purpose: An algorithm for automated segmentation of meibomian glands from infrared images obtained using a novel prototype infrared hand-held imager has been proposed in this study. Meibomian gland dysfunction (MGD) is quantified in terms of five clinically relevant metrics. A comparison of these metrics in patients with MGD has been presented against a sample of the normative healthy population. Methods: This is a prospective cross-sectional observational study. Patients presenting to the clinics were enrolled after written informed consent. The everted eyelids of 200 eyes of patients (of which 100 were healthy and 100 were diagnosed with MGD) were imaged using a prototype hand-held camera. The proposed algorithm was used to process the images using enhancement techniques and the glands were automatically segmented. A comparison of glands of normal eyes versus MGD-affected eyes is performed using five metrics presented in this study: (i) drop-out, (ii) length, (iii) width, (iv) the number of glands, and (v) the number of tortuous glands. Results: The 95% confidence interval for the metrics did not show any overlap between the two groups. In MGD patients, the drop-out ratio was higher than normal. The length and number of glands were significantly lesser than normal. A number of tortuous glands were more in the MGD group. The metrics for MGD versus healthy and cut-off ranges were computed in the results. Conclusion: The prototype infrared hand-held meibographer and the proposed automatic algorithm for gland segmentation and quantification are effective aids in MGD diagnosis. We present a set of five metrics, which are clinically relevant for guiding clinicians in the diagnosis of MGD.

Filaggrin gene polymorphisms in Indian children with atopic dermatitis: A cross-sectional multicentre study.

Background Filaggrin (FLG) gene encoding the protein filaggrin plays an important role in barrier function of the skin and its alteration is a predisposing factor for atopic dermatitis. FLG gene variants result in absent or decreased filaggrin protein. Worldwide, the prevalence of FLG variants ranges from 14 to 56%. FLG null variants are distinct in each population. Objectives To study the FLG gene polymorphisms in Indian children and attempt a genotype-phenotype correlation in atopic dermatitis. Methods This was a cross-sectional, multicentre study conducted on 75 Indian children. Demographic details, clinical features and identified FLG null variants were recorded. We performed a whole gene sequencing of the entire FLG coding region using next-generation sequencing technology. Results The prevalence of FLG null variants was 34.7%. A total of 20 different FLG loss of function variants in 26 children were documented. Sixteen (80%) variants were novel and four (20%) were previously reported in Asian and European populations. We found a statistically significant association between FLG variants with early age of onset of atopic dermatitis (P = 0.016) and elevated serum IgE levels (P = 0.051). There was no significant difference between atopic dermatitis phenotypes in children having one variant as compared to children harbouring two or more null variants. Limitation Small sample size. Conclusion Our study reports a unique set of FLG variants different from Asian and European populations, with these variants being significantly associated with an early age of onset of atopic dermatitis and elevated serum IgE levels.

Recurrent Bilateral Lower Motor Neuron Type of Facial Palsy with Hearing Impairment: Hyperphosphatemic Familial Tumoral Calcinosis.

Hyperphosphatemic familial tumoral calcinosis (HFTC) presents with varied neurological manifestations that have been reported in the literature like facial palsy, vision and hearing impairment, stroke, and headache. In this article, we reported a 12-year-old girl child patient with recurrent facial weakness with bilateral hearing impairment and multiple ulcerative lesions on lower limbs and elbows. On examination, she had lower motor neuron (LMN) facial palsy with conductive hearing loss. The investigations showed hyperphosphatemia (9.3 mg/dL) with normal serum calcium (10.4 mg/dL), alkaline phosphatase (147.9 U/L), parathyroid hormone (23.12 pg/mL), and renal function tests. Elevated serum calcium and phosphorus product (96.72 mg 2 /mL 2 ) and elevated renal tubular reabsorption of phosphate (TMPxGFR) value (9.16) were noted. Skeletal survey showed hyperostosis in the long bone diaphysis, vertebrae, ribs, pelvic bone, skull, and facial bones with narrowing of cranial ostium, characteristically without any peri-articular soft tissue calcifications. An angiogram showed multiple intravascular calcifications. She was managed with a low-phosphate diet, sevelamer, niacinamide, acetazolamide, sucroferric oxyhydroxide to lower serum phosphate level, and topical sodium thiosulfate ectopic cutaneous calcification. Exome sequencing showed novel homozygous inframe deletion of ACG in FGF23 gene exon 3 at c.374_376 delins position (p. Asp125del) in the proband and a mutation in the heterozygous state in the mother and elder sibling, thus confirming a molecular diagnosis of HFTC. Our case had a unique neurological presentation of recurrent bilateral lower motor nerve facial palsy, hearing loss, multiple ectopic cutaneous calcifications without peri-articular deposits, multiple intravascular, intracranial, and vertebral endplate calcification, which has not been reported earlier. The proband showed a novel pathogenic variant suggesting an expanding phenotype of HFTC.

Psoriasis in Pediatric Age Group.

Psoriasis is a common, chronic, immune-mediated, multisystem, inflammatory disorder. It affects all age groups, including infancy. In one-third of the cases, the onset of the disease is in the first and second decades of life. Childhood psoriasis significantly affects the quality of life of the child as well as that of the entire family. Pediatric psoriasis has distinct clinical presentations and evolves with time. Like in adults, chronic plaque psoriasis has been found to be the most common type of childhood psoriasis. Psoriatic plaques in children are less pruritic, smaller and thinner with less prominent scaling. In pigmented skin, the erythema is less prominent and plaques appear violaceous or hyperpigmented. Pediatric psoriasis can be associated with arthritis, metabolic syndrome, depression and anxiety. Hence all children should be screened routinely for associated comorbidities. Management of pediatric psoriasis is challenging owing to the limitation of approved therapies. 'Proactive therapy' is a recent approach in childhood-onset psoriasis that would help to prevent the severity of flare-ups, thus improving the quality of life.

Cross-cultural Adaptation and Validation of the Vocal Performance Questionnaire into Kannada.

BACKGROUND/OBJECTIVES: Vocal Performance Questionnaire (VPQ) is a short and convenient tool with one-dimensional consistency to evaluate the vocal performance. Developing the Kannada version of VPQ can be a useful self-assessment clinical tool for evaluating dysphonia symptoms in Kannada-speaking patients. Hence, the objective of the study was to translate the VPQ into Kannada and to evaluate the psychometric properties and the cutoff scores for the Kannada version of the VPQ (VPQ-K). STUDY DESIGN: This investigation deployed a non-randomised, prospective standard group comparison. METHODS: VPQ was translated to Kannada and administered to 71 participants (37 males and 34 females) diagnosed with voice disorder with a mean age of 43.94 ± 15.31 years and 71 age and gender-matched participants with a clinically normal voice. RESULTS: The test-retest reliability of the VPQ-K was measured through Intra class correlation, and the results indicated excellent test-retest reliability. The Internal consistency of VPQ-K was determined using the Split half reliability by calculating the Spearmen-Brown coefficient, and the results revealed that VPQ-K had very strong internal consistency. Results also indicated that the participants in the control group had significantly lower VPQ-K scores compared to the participants in the study groups, indicating that VPQ-K had good construct validity. Receiver Operating Characteristic (ROC) curve analysis showed a cutoff point of 18.50 for VPQ-K. CONCLUSIONS: As VPQ-K is a quick, easy to fill and low-burden self-assessment tool, VPQ-K can be proposed as a sensitive clinical tool to assess the vocal performance in Kannada-speaking patients with voice disorders and to evaluate the treatment outcome.

Grossly Depressed Frontal Bone Fracture in a Paediatric Patient: A Case Report.

This study highlights the management of a grossly depressed frontal bone fracture with obvious deformity in a paediatric patient as facial fracture management is frequently intricate and challenging, particularly within the paediatric population as compared to adult. Paediatric fractures have a greater capacity to remodel, but the paediatric brain and craniofacial skeleton are still developing which puts the children at risk for unique complications, such as growing skull fractures.

Scrotal ulcers in an infant with multisystem inflammatory syndrome in children associated with severe acute respiratory syndrome coronavirus 2 infection.

The majority of cases of multisystem inflammatory syndrome in children (MIS-C) manifest non-specific mucocutaneous features. We report the case of a 3-month-old infant presenting with purpura, acral desquamation, and scrotal ulcers. Scrotal ulcers have not been previously reported in MIS-C and add to the spectrum of cutaneous findings associated with the disorder.

Real-World Effectiveness and Safety of Dupilumab for the Treatment of Moderate to Severe Atopic Dermatitis in Indian Patients: A Multi Centric Retrospective Study.

INTRODUCTION: Treatment of moderate to severe atopic dermatitis (AD) is a real challenge for the dermatologists. Dupilumab is the first targeted biologic therapy approved for the treatment of children and adults with moderate-to-severe AD. The efficacy and safety of dupilumab in Indian patients is limited to date, it is necessary to assess the performance of this treatment in real clinical practice in the Indian context. METHODOLOGY: Patients from three centers of India, two from Kolkata and one from Bangalore were included in the study for retrospective chart analysis. Efficacy was assessed by comparing the SCORAD and EASI and impact on quality of life was assessed by DLQI scores. All patients received standard doses of Dupilumab. Any side effect of the treatment was noted in the bi-weekly follow-up visit. RESULTS: Twenty-five patients who were treated with dupilumab for at least 6 months were retrospectively included to study. The mean EASI score improved from 19.48 at baseline to 4.84 at six months. Seventeen patients (68%) achieved EASI 75 (≥75% improvement from baseline) at the end of 6 months of treatment. All these patients were earlier treated with at least one systemic immunomodulator without any significant improvement. The mean SCORAD score also improved with dupilumab treatment from 37.32 at baseline to 8.04 at six months. The improvement were found to be statistically significant (P < 0.001). The quality of life also improved significantly (P < 0.001) from a baseline mean of 17.08 at baseline to 6.52 at 6 months. CONCLUSIONS: We observed significant efficacy, tolerability, and safety of dupilumab in Indian patients with AD in a real-world setting, which was similar to that shown in clinical trials in the western populations.