Child sexual abuse (CSA) is a serious public health issue in India, with long-lasting physical, emotional and psychological consequences. Dermatologists play a crucial, though often underappreciated, role in the identification and management of CSA due to expertise in recognising and interpreting cutaneous signs, which are the most common and visible indicators of abuse. The authors explore the pivotal role of dermatologists in the multidisciplinary approach to CSA, emphasising their involvement in history-taking, physical examination, injury interpretation, and forensic evidence collection. The article also discusses the importance of timely reporting to authorities and adhering to treatment protocols based on the prevalent guidelines. This article attempts to create awareness among practising dermatologists in India about their role in the early detection and comprehensive care of CSA survivors. We also believe that this article will act as a guiding force for them to manage CSA cases effectively.

BackgroundPure neuritic leprosy (PNL) is a distinct form of leprosy characterized by peripheral nerve involvement without skin lesions. Diagnosis is often delayed, and 'silent neuritis' contributes to progressive and irreversible nerve damage. Despite appropriate therapy, many patients develop long-term disability. This study describes the clinical profile, diagnostic patterns, therapeutic outcomes, and predictors of disability in biopsy-confirmed PNL.MethodsWe conducted a retrospective observational cohort study at a tertiary referral centre in South India, enrolling biopsy-confirmed PNL cases from January 2003 to May 2023. Demographic, clinical, electrophysiological, and histopathological data were collected. The primary outcome was the proportion of patients with high disability at follow-up (WHO grade 2). Predictors of disability were identified using multivariate analysis.ResultsNinety-five patients were included (mean age 43.02 years (SD 15.32); 77% male). Over half (55%) presented 1-5 years after symptom onset. Sensory deficits were most common (80%), followed by foot drop (51%), ulnar claw (38%), and trophic ulcers (25%). Electrophysiology revealed mononeuritis multiplex in 52.6% and axonal polyneuropathy in 22.2%. Nerve biopsy showed borderline tuberculoid pathology in 78% and borderline lepromatous in 15.7%. Notably, 6 patients with mononeuropathy had lepromatous pathology. All patients received multidrug therapy; 41 experienced lepra reactions. Higher severity at treatment initiation was significantly associated with persistent disability.ConclusionsPNL often presents late, with many patients already experiencing nerve damage. A substantial subset of clinically mononeuritis patients demonstrated lepromatous pathology, emphasizing the need for nerve biopsy in all suspected cases. Early detection and timely treatment may reduce disability burden. These findings highlight critical gaps in current diagnostic strategies and underscore the importance of aggressive early intervention in PNL.

Recent evidence implicates altered RNA editing and dysregulated type I IFN signaling in immune-mediated diseases, including psoriasis, although the underlying genetic mechanisms remain poorly defined. We investigated four unrelated multiplex families with early-onset plaque psoriasis, with or without psoriatic arthritis, segregating as a monogenic trait and characterized by a strong IFN signature in skin and blood. Whole-exome sequencing identified four rare heterozygous loss-of-function mutations in ADAR1 cosegregating with disease and elevated IFN-stimulated gene expression. Six additional rare variants were detected in an independent cohort of 125 psoriasis patients. Single-cell transcriptomics identified keratinocytes and melanocytes as major IFN sources. Functional studies showed that ADAR1 knockdown or expression of ADAR1G1119R and ADAR1P3A alleles pathogenic variants reduced adenosine-to-inosine RNA editing and increased IFN-stimulated genes and inflammatory cytokines, effects reversed by upadacitinib and deucravacitinib. These findings define a novel IFN-dependent psoriasis subtype caused by inborn defects of ADAR1-mediated RNA editing, with direct implications for precision medicine in psoriatic disease.

ABSTRACT:Neurofibromatosis type 1 (NF1) is a common autosomal dominant neurocutaneous syndrome that affects 1 in 2,500-3,000 births. The phenotypic hallmarks include Lisch nodules, optic nerve gliomas, café-au-lait spots, axillary freckling, and benign neurofibromas. NF1 patients carry an 8-13% lifetime risk of malignant peripheral nerve sheath tumors, the leading cause of NF1 mortality. Current genetic testing detects NF1 variants in 95-97% of cases. In this prospective cohort of 103 cases, we used targeted NF1 sequencing by next-generation sequencing, multiplex ligation-dependent probe amplification (MLPA), and whole-genome sequencing to identify causative variants. Pathogenic or likely pathogenic variants were identified by in-house targeted testing in 93% of cases; six cases had large deletions detected by MLPA, and two had variants identified by whole-genome sequencing. This is the largest genetically confirmed Indian NF1 cohort reported, expanding the known mutational spectrum and demonstrating the utility of whole-genome sequencing for unresolved cases (~2%), as well as highlighting the clinical and genetic heterogeneity of NF1.

Background: Filaggrin deficiency causes early-onset atopic dermatitis (AD), extrinsic AD, persistent and severe disease, palmoplantar hyper linearity, keratosis pilaris, and increased risk of hand eczema. There is a paucity of data on the prevalence and types of variation in the filaggrin gene (FLG) in the Indian population. Aim and Objectives: To study the prevalence and characteristics of filaggrin mutations in Indian children affected with AD and to attempt a genotype-phenotype correlation. Materials and Methods: A pilot study was done among Indian children with AD aged 4-16 years, attending the Pediatric Dermatology outpatient department between February and September 2022 (7 months). Long-range polymerase chain reaction target enrichment and next-generation sequencing were used to sequence the complete FLG gene from peripheral blood samples. The identified variants were analyzed and categorized. Results: Among the 30 recruited children with AD, 28 genetic variants in exon 3 of FLG were found in 19 (63%) patients. These variants were classified as pathogenic (6, 21.4%), likely pathogenic (3, 10.7%), benign (16, 57.1%), and variant of uncertain significance (3, 10.7%). Among the 9 significant variants, 4 (45%) were novel. Although the patients with filaggrin variants had a higher prevalence of positive family history of atopy, other allergic diseases in the child, higher IgE levels, and a higher percentage of severe AD, the difference was not statistically significant. Limitation: Small sample size. Conclusion: Significant FLG null variants were identified in 23% (among which 45% were novel) of Indian children with AD. The spectrum of identified variants did not reflect the known FLG hotspots from other ethnicities, indicating the need for larger studies to determine the relevant hotspots in the Indian population.

Background Atopic dermatitis (AD) is a chronic, relapsing inflammatory skin disorder with a significant impact on psychosocial health and quality of life. Despite growing prevalence in India, particularly among adults, a comprehensive, India-specific guideline incorporating recent advances is lacking. Objective To develop a standardised, evidence-based consensus on the diagnosis and management of paediatric and adult AD in India through a modified Delphi methodology. Methods A total of 14 dermatology experts across India, with over 15 years of clinical and academic experience, formed the Special Interest Group of Paediatric Dermatology under IADVL. A systematic literature review was conducted using databases such as PubMed, Embase, and Cochrane, focusing on Indian and global literature up to December 2024. Based on this, 29 draft statements were generated covering domains of diagnosis, severity assessment, non-pharmacological measures, and topical and systemic therapies. A two-round, web-based, modified Delphi process was conducted anonymously to reach consensus. Statements with ≥75% agreement were retained. Results Consensus was achieved on all 29 statements. Thirteen statements were finalised after the first round, and 16 were refined and approved in the second round. Key recommendations included the use of modified Hanifin and Rajka criteria for diagnosis, SCORAD and IGA for severity assessment, therapeutic patient education, and individualised use of moisturisers, topical corticosteroids, and topical calcineurin inhibitors. For systemic therapy, cyclosporine remains first-line for moderate-to-severe AD, with conditional recommendations for methotrexate, mycophenolate, and JAK inhibitors such as abrocitinib. Emerging therapies like topical tofacitinib and crisaborole were discussed with caution due to limited Indian data. Limitation Although several new therapies—such as abrocitinib and dupilumab—have been approved for pediatric atopic dermatitis, consensus among Delphi panelists remains limited. There is lack of sufficient clinical experience and pediatric-specific data on these agents, highlighting the urgent need for more robust studies to inform expert alignment and clinical practice. Conclusion This updated Indian consensus guideline provides comprehensive, evidence-based, and context-sensitive recommendations for diagnosing and managing AD across age groups. It addresses previously unmet needs in adult AD. This consensus is expected to enhance clinical outcomes and standardise AD management nationally.

Psoriasis is a chronic and complex immune-mediated papulosquamous disease affecting almost 2% of the world population. The interaction between a genetically predisposed individual and environmental triggers leads to a vicious cycle involving autoreactive T cells, dendritic cells, keratinocytes and dermal cells. Up to 40% of the psoriasis cases develop disabling psoriatic arthritis and an equal number of patients also tend to develop metabolic syndrome as well as cardiovascular comorbidities; hence, this is no more considered to be a disease limited to skin only. Being a systemic disease, there is an urgent need to develop potential biomarkers for the assessment of disease severity, prediction of outcome of the therapeutic intervention and association with various systemic comorbidities. Diverse genetic markers not only function as predictors of diseases pathogenesis, but also help to predict development of psoriasis and psoriatic arthritis. Personalised medicine is customising the therapeutic needs of a psoriasis patient and improving the outcome as per the hints we receive from the various biomarkers. This review deals with the list of potential biomarkers proposed to be useful in psoriasis, though there is limited data validating their routine use in clinical practice and the progress so far made in the field of precision medicine for psoriasis.

Psoriasis is a common chronic, immune-mediated inflammatory skin disease associated with various comorbidities. Managing psoriasis is often challenging as the therapy is decided based on the area of the disease, associated comorbidities and impairment in quality of life, besides the patient's preference. Making progress in the development of new molecules that can be used topically or orally, effectively controlling the disease with minimal side effects and providing long-lasting remissions are the needs of the hour. Recent developments in understanding the complexities of the pathogenesis of psoriasis have resulted in the reinforcement of treatment modalities, leading to the evolution of various biologics and small-molecule inhibitors. In comparison with biologics, both patients and treating physicians prefer small molecules for various reasons such as avoiding injections and side effects that are associated with biologics biologics. Moreover small molecules are economical than biologics. Newer small molecules, both topical and oral, are promising additions to the therapeutic arsenal in the management of psoriasis in the future.

Sorafenib is a multikinase inhibitor used in the treatment of various solid tumors. Mucocutaneous adverse events are experienced by 70 to 90% of the patients receiving sorafenib, underscoring the importance of awareness among oncologists and dermatologists. Spiny follicular hyperkeratosis (SFH) is a benign and rarely reported skin reaction linked to sorafenib. It is characterized by flesh-colored or white, follicular hyperkeratotic spicules, preferentially involving the face, scalp, upper trunk, and upper arms. Besides being acknowledged as a paraneoplastic cutaneous manifestation of multiple myeloma, SFH has also been linked to a few diseases and drugs, other than sorafenib. However, the precise etiopathogenesis remains to be elucidated. We report an interesting case of SFH in a 14-year-old child, 1 week following the initiation of sorafenib. Trichodysplasia spinulosa, multiple minute digitate hyperkeratosis, keratosis pilaris, filiform warts, and pityriasis rubra pilaris are morphologically similar conditions that were excluded by clinicopathological correlation. A complete resolution of skin rash following sorafenib dose reduction further reinforced our diagnosis. Our patient also developed hand-foot skin reaction, facial erythema, and eruptive nevi during treatment. The regrowth of curly hair following chemotherapy-induced anagen effluvium was an interesting development in our case. We report this case to familiarize clinicians with this rare entity.

Febrile ulceronecrotic Mucha-Habermann disease (FUMHD), a lymphocyte-mediated inflammatory skin disorder, is considered a severe variant of pityriasis lichenoides et varioliformis acuta that can lead to a fatal outcome if not managed in a timely fashion. Children with FUMHD can have systemic complications involving various organs. The scarcity of reported cases and the absence of well-designed studies or randomized clinical trials to evaluate different therapeutic modalities pose a major challenge in treating this potentially life-threatening disorder. We report a five-year-old child with FUMHD and seizures treated unsuccessfully with a combination of systemic steroids, methotrexate, dapsone, and oral erythromycin, who improved rapidly and achieved disease control with just a single infusion of low-dose intravenous immunoglobulin.

Pustular psoriasis is a specialized variant of psoriasis which can be life threatening if not treated at the earliest. The pathogenesis has been recently linked to the role of interleukin 36. Apart from the corticosteroids, systemic antipsoriatics like acitretin, cyclosporine and methotrexate have been used with some success though unpredictable. With recent identification of role of IL-36 in the pathogenesis of pustular psoriasis, biologics targeting the IL-36 receptors have been used to manage the situation with high degree of success. This narrative review deals with the recent concepts of pathogenesis of pustular psoriasis as well as the current management scenario.

Background: Direct immunofluorescence (DIF) including salt split skin technique is quintessential in the diagnosis of subepidermal bullous disorders. These techniques are expensive and require technical expertise, limiting their diagnostic utility. The property of periodic-acid–Schiff to stain the basement membrane and the patterns produced by it was observed in a cohort of subepidermal bullous disorders, to see if it offers an alternative cost-effective testing method. Materials and Methods: This was a retrospective, observational study conducted in the department of general pathology, in a tertiary care medical center, over a period of 4 years. Only those cases for which paraffin sections, DIF and direct salt split skin immunofluorescence technique were available were included. The levels of anti-bullous pemphigoid (BP) antibodies were collected where available. Results: Of the 21 cases analyzed, 15 were BP, two each of epidermolysis bullosa acquisita (EBA) and lichen planus pemphigoides (LPP), one each of porphyria cutanea tarda (PCT), and bullous systemic lupus erythematosus (SLE). All the cases of BP, LPP and EBA showed a floor pattern of staining with periodic acid–Schiff (PAS) stain. Roof pattern of staining was observed in bullous SLE and PCT. PAS was found to be useful in diagnosing BP, especially in conjunction with an eosinophil rich bulla and anti-BP antibodies. Conclusion: We found that PAS stain could be an adjunct to hematoxylin and eosin stain when the diagnosis of BP is in doubt. However, larger sample size is needed to study its utility in other subepidermal bullous disorders.

A wide range of inherited and acquired conditions can manifest as infantile erythroderma, among which CARD14-associated papulosquamous eruption (CAPE) is a rare cause. An infant boy presented with a psoriasiform rash that progressed to erythroderma and was unresponsive to topical steroids and cyclosporine. The early onset of the disease, its severity and resistance to conventional treatment were suggestive of a genetic cause. Genetic evaluation revealed a homozygous CARD14 variant of uncertain significance establishing the diagnosis of CAPE, and his parents were heterozygous carriers. There was only minimal improvement in the condition with supportive management and treatment with acitretin. Unfortunately, the child succumbed to sepsis and metabolic complications following a sudden worsening of skin disease. This case highlights the significance of genetic studies in diagnosing treatment-refractory cases of infantile erythroderma and emphasises the importance of early recognition of this rare condition.

Background:Pyoderma gangrenosum (PG) is a reactive neutrophilic inflammatory dermatosis with a varied clinicopathologic presentation. It commonly manifests as rapidly progressive painful ulcers, mimicking varied conditions including infections, vasculitis, and malignancies, and is a diagnosis of exclusion. There are scarce data on PG from the Indian subcontinent. Aim and Objectives:The aim of the study was to study the clinicopathologic profile of patients with PG and their underlying systemic associations. Materials and Methods:A retrospective observational study was done between 2011 and 2021, and patients diagnosed as PG based on the diagnostic tool proposed by Maverakis et al. were recruited and their demographic, clinical, and histological findings were obtained. Results:Among 54 patients with suspected PG, 17 patients (eight males and nine females) fulfilled the diagnostic criteria, and the mean age of disease onset was 32.1 years (range: 3-60 years). Ulcerative variant was the most common type (9/17, 52.9%), and 29.4% had systemic associations including autoinflammatory syndromes. The onset at atypical sites such as face and hand were noted in one patient each. Histopathology revealed a polymorphous dermal infiltrate with neutrophilic predominance in the majority (94.1%). Systemic steroids (dose ranging from 0.5-1 mg/kg prednisolone equivalent) were used in 11/17 (64.7%) patients. The commonly used alternative drugs included clofazimine (47%), minocycline (29%), thalidomide (23.5%), adalimumab and mycophenolate mofetil in 17.6% each, dapsone and ciclosporine in 11.7% each. Remission was achieved between two weeks and three months in 10 (58.8%) patients after treatment initiation and two mortalities (11.7%) were recorded. Conclusion:PG can affect any age group and may be localized to rarer, atypical sites. The possibility of underlying autoinflammatory conditions should be considered in addition to the evaluation of other disorders like inflammatory bowel disease, hematological disorders, and rheumatological disorders.