Rapid recovery in a child with febrile ulceronecrotic Mucha-Habermann disease following intravenous immunoglobulin administration.

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.

Self-healing cutaneous nodules with fever and arthritis: worrisome presentation of a benign disorder.

A 4-year-old boy with extensive papules and nodules with arthritis was evaluated and followed up. In spite of the initial worrisome presentation, the lesions showed near-complete resolution over a 2-year follow-up period. Click here for the corresponding questions to this CME article.

Genotype of autosomal recessive congenital ichthyosis from a tertiary care center in India.

BACKGROUND: Autosomal recessive congenital ichthyosis (ARCI) refers to non-syndromic ichthyosis caused by mutations in one of the 13 identified genes. There are limited data on the genotype of ARCI and its phenotypic correlation from India. OBJECTIVES: The aim of this study was to characterize the genotype of ARCI among patients from the Indian subcontinent. METHODS: Twenty-eight patients clinically diagnosed as ARCI were recruited prospectively from September 2017 to June 2019 (21 months). DNA was extracted from peripheral blood and analyzed for the 13 described ARCI genes-TGM1, ABCA12, ALOX12B, ALOXE3, CERS3, CYP4F22, LIPN, NIPAL4, PNPLA1, SDR9C7, SLC27A4, SULT2B1, and CASP14 by next-generation sequencing using an in-house panel. The variants identified were confirmed by Sanger sequencing and compared with known pathogenic variants to establish pathogenicity. We also attempted to correlate the phenotype with the genotype. RESULTS: Among the 28 patients recruited (M = 17, F = 11), we identified phenotypes of congenital ichthyosiform erythroderma in 12 (42.9%), 8 with lamellar ichthyosis (28.6%), 5 with intermediate phenotype (17.9%), and 3 with bathing suit ichthyosis (10.7%). Pathogenic and likely pathogenic variants were identified in 22 (78.6%) patients, involving 7 out of the 13 known ARCI genes while 6 (21.4%) did not have pathogenic variants. These included TGM1 mutation in 6 (21.4%), ALOX12B and ALOXE3 in 4 (14.3%) each, NIPAL4 and PNPLA1 in 3 (10.7%) each, and ABCA12 and CERS3 in 1 (3.6%) patient each. Previously unknown pathogenic variants were found in 59.1 % of patients. CONCLUSIONS: Our patients with ARCI were found to have genotypes as previously described in other populations.

An unusual case of keratinopathic icthyosis: a diagnostic conundrum.

Epidermolytic ichthyosis (EI) is a rare inherited ichthyosis related to heterozygous mutations in the Keratin 1 or Keratin 10 genes. Because of the broad phenotypic spectrum, it is sometimes difficult to differentiate it from other keratinopathic ichthyoses (KI) in clinical practice. We report an intriguing case of KI presenting as generalized ichthyosis in a reticulate pattern surrounding islands of normal skin, epidermolytic hyperkeratosis and binucleate cells on histopathology, and heterozygous mutation in KRT10. Through this case, we would like to demonstrate the importance of genetic studies and genotype-phenotype correlation in diagnosing such challenging cases.

Learning to pop blisters in epidermolysis bullosa with a simple model.

Epidermolysis bullosa (EB) is a genetic disorder with skin fragility resulting in easy blistering of skin and mucous membranes. A plane of cleavage exists even where there is no visible blister, so new blisters should be drained as soon as possible to prevent their expansion. Although, learning how to drain blisters safely and painlessly without introducing infection is essential, it can be a major challenge, especially for new parents and children. To avoid demonstrating the technique directly on patient's skin, we have devised a simple teaching aid simulating a hand and forearm with multiple blisters, created with readily available materials. In our experience, we have found this low-cost model to be extremely useful to teach patients, families, and professional groups, how to drain EB blisters and it provides an effective, low-cost, painless substitute for real-life blisters, empowering parents and engaging children.

Two cases of CARD14-associated papulosquamous eruption from India.

Identification of CARD14-associated papulosquamous eruption (CAPE) is important as it helps in determining prognosis and management of those affected. We report two siblings with genetically confirmed CAPE presenting with treatment-resistant erythroderma in one patient and patterned psoriatic plaques with facial predominance in the other.

Congenital cutaneous lymphadenoma.

Cutaneous lymphadenoma is an uncommon benign neoplasm often considered to be an adamantinoid variant of trichoblastoma. Lesions present in both sexes, between 14 and 87 years of age, and are mainly located on the head and neck. Cases in children are rare and there is only 1 previous case of a congenital lymphadenoma. An 8-year-old Asian girl presented with a congenital lesion on her forehead comprising 4 pink papules, the largest 5 mm in diameter. Microscopy revealed a well-circumscribed tumor within the dermis and subcutis comprising well-demarcated epithelial lobules of basaloid and clear cells with subtle peripheral palisading, growing in a collagenous stroma but lacking retraction artefact. A relatively dense accompanying predominantly lymphocytic inflammatory cell infiltrate including both T-cells (CD3+) and B-cells (CD20+) permeated the nodules and spilled into the stroma. CD68+ histiocytes and CD1a+ Langerhans cells were moderately numerous. This is the second case of congenital lymphadenoma which-in spite of its rarity in childhood-widens the diagnostic possibilities of cutaneous lymphoepithelial tumors in children.

Clinical profile of childhood-onset psoriasis and prevalence of HLA-Cw6: a hospital-based study from India.

BACKGROUND: Childhood-onset psoriasis (COP), a distinct clinical entity, may be associated with HLA-Cw6 positivity and metabolic and cardiovascular complications. There is some evidence that HLA-Cw6 positivity is associated with more extensive or severe disease and that positivity is lower in Asian patients than in Caucasians. We describe the clinical profile, prevalence of the HLA-Cw6 allele, metabolic syndrome (MetS) and vitamin D deficiency in Indian patients with COP. METHODS: In this cross-sectional hospital-based study over 15 months (June 2010-August 2011), 108 consecutive patients with disease onset ≤16 years were enrolled. Demographic, clinical and laboratory data were collected. Patients were categorised as children with COP (CCOP; n=69) or adults with COP (ACOP; n=39). Disease severity was assessed using body surface area (BSA) involved and Psoriasis Area and Severity Index (PASI) score. RESULTS: The most common morphological type was chronic plaque psoriasis; follicular psoriasis was seen only in children. Adults with disease onset in childhood, when compared with CCOP, had later disease onset (11.0±4.0 vs 6.9±3.8 (mean±SD) years; p<0.0001) of greater severity (p=0.021) based on BSA involved. PASI scores were, however, similar in ACOP and CCOP. Body mass index was not associated with disease severity. Of the 83 who underwent HLA-C typing, 46 (55.4%) were positive; positivity was associated with guttate lesions (p=0.031), scalp involvement (p=0.004), greater BSA involvement (p=0.002) and higher PASI scores (p=0.013). Vitamin D deficiency, obesity and MetS were present in 77.4%, 10.7% and 14.5% of patients, respectively. CONCLUSIONS: Among Indian patients, CCOP have earlier disease onset than ACOP. HLA-Cw6 was associated with guttate psoriasis, scalp involvement and disease severity. Vitamin D deficiency was common.

Metabolic Comorbidities in Pediatric Psoriasis-A Comparative Cross-Sectional Study in South-Asian Children.

Background: There is only limited data on the association between psoriasis and metabolic comorbidities in South-Asian children. Objective: To examine metabolic comorbidities among South-Asian children with and without psoriasis. Materials and Methods: A hospital-based, comparative, cross-sectional study was conducted in children with and without psoriasis over 19 months. Anthropometric, clinical, and metabolic comorbidity details (including disease extent and severity scores, obesity, systemic hypertension, diabetes mellitus, lipid abnormalities, and metabolic syndrome) were obtained in both groups according to standard criteria. Results: Fifty-eight children with psoriasis (25 males/33 females, age 11.3 ± 3.0 years, range 4 to 17 years) and 62 children without psoriasis (37 males/25 females, age 11.0 ± 3.6 years, range 4 to 18 years) were recruited. The prevalence of obesity (31.0% versus 14.5%, P = 0.031, odds ratio 2.65) and metabolic syndrome (18.6% versus 4.6%, P = 0.044, odds ratio 4.68) were higher in children with psoriasis than without. The prevalence of other metabolic comorbidities (systemic hypertension, pre-diabetes, lipid abnormalities, elevated serum alanine aminotransferase, and non-alcoholic fatty liver disease) was not different between children with and without psoriasis and between obese and non-obese children with psoriasis. Among children with psoriasis, those with abdominal obesity had significantly lower disease severity and extent scores than those without. Conclusion: Psoriasis is associated with a significantly higher prevalence of obesity and close to significantly higher prevalence of metabolic syndrome in South-Asian children. Screening for metabolic comorbidities is essential even in non-obese children with psoriasis. Disease extent and severity are less in obese compared to non-obese South-Asian children with psoriasis.

Homozygous CARD14 variant presenting as infantile erythroderma.

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.

Algorithmic approach toward diagnosis of patients with congenital photosensitivity disorders and review of literature.

The congenital photosensitivity disorders present as cutaneous signs and symptoms secondary to photosensitivity, extracutaneous manifestations, and a predisposition to malignancy. Diagnosis of these conditions mainly depend on clinical findings as the molecular analysis is not always feasible. A review of all the related articles collected after a thorough literature search using keywords, "congenital AND photosensitivity NOT acquired" and the individual diseases was done. A total of 264 articles were included in the review. An algorithm for diagnosis of the different congenital photosensitivity disorders based on the various clinical presentations has been proposed. An early suspicion and diagnosis of the different congenital photosensitivity disorders is the cornerstone behind prompt institution of prevention and treatment, and decreasing the associated morbidity.

Biomarkers in Psoriasis: The Future of Personalised Treatment.

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.

Small Molecules in the Management of Psoriasis and Psoriatic Arthritis.

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.

Management of Pustular Psoriasis; The Way Ahead.

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.

PHACES syndrome with moyamoya vasculopathy - a case report.

"PHACES" (OMIM 606519) is a neurocutaneous disorder, and facial hemangiomas are the hallmark of this syndrome. The syndrome encompasses posterior fossa brain malformations, facial hemangiomas, arterial anomalies, aortic coarctation, cardiac anomalies, eye abnormalities, and sternal defects.

Coronavirus disease 2019 vaccination in patients with psoriasis: A position statement from India by SIG psoriasis (IADVL Academy).

Coronavirus disease 2019 (COVID-19) pandemic has affected every sphere of life including management of psoriasis. The availability of COVID-19 vaccines has given rise to hope and at the same time some apprehensions as well. With the general population becoming eligible for vaccination, there is some confusion, on the eligibility of patients with different medical conditions and patients on immunosuppressive or immunomodulating medications for COVID-19 vaccination. Dermatologists treating psoriasis patients frequently face questions from them, whether they can undergo coronavirus disease 2019 vaccination. A PUBMED search was performed using the following strategy: 'COVID-19' AND 'Vaccine' AND 'Psoriasis'. We also performed a PUBMED search using the following strategy: 'SARS-CoV-2' AND 'Vaccine' AND 'Psoriasis'. All articles irrespective of language and publication date were included to arrive at this position statement. This position statement deals with the safety, eligibility and modifications of treatment, if needed among psoriasis patients with regards to the coronavirus disease 2019 vaccines currently available in India.

Upward trends of syphilis in the non-pregnant adults: A six-year report on clinical and epidemiological profile of syphilis from a tertiary care center, India.

Since 2000, a resurgence of syphilis has been noted in many developed and developing countries, especially among men who have sex with men (MSM). Incidence and prevalence of syphilis in pregnant women have been reduced drastically by mandatory screening in early pregnancy. Insufficient data in other populations especially from developing countries limit targeted public health interventions. This study aimed to describe the clinical and epidemiological profile of serologically confirmed syphilis cases among the non-pregnant high-risk group reporting to a tertiary care center in Southern India. A retrospective study was carried out in a tertiary care center in Southern India for 6 years from 2015 to 2020. A total of 265 serologically confirmed syphilis patients were included. A statistically significant increase in positivity from 0.52 to 2.1% was observed in this study (2015 to 2020). Among risk factors, high-risk behavior with multiple heterosexual partners was the commonest (51.3%), followed by marital partners who tested positive (9.4%) and MSM (7.5%). The majority of the patients were diagnosed at the latent stage (79%), followed by secondary syphilis (10%) and tertiary syphilis (8%). A quarter of patients (23%) were coinfected with HIV. Serological non-responsiveness was more common among HIV infected (47 vs. 24%). Sixteen had neurosyphilis and six had ocular involvement. HIV co-infection complicated 50% (8/16) of neurosyphilis patients. Syphilis is still prevalent, especially in high-risk groups including those are attending STI clinics. Further prospective multicentric studies are needed to identify and implement public health measures.

The Role of Frozen Section in the Rapid Diagnosis of Severe Cutaneous Adverse Drug Reactions.

CONTEXT: Early diagnosis is the mainstay in the management of severe cutaneous adverse reactions (SCARs) to drugs. AIMS: To study the role of frozen section in the rapid diagnosis of SCARs and the impact on outcome of the affected patients. SETTINGS AND DESIGN: A single-blind, hospital-based study was conducted from December 2014-July 2016. METHODS AND MATERIAL: We biopsied 32 adults with SCARs diagnosed by clinical features and standard criteria. The histopathological features seen on frozen sections were compared to that of paraffin blocks. The impact of rapid diagnosis on the clinical outcome was studied in toxic epidermal necrolysis (TEN), Stevens-Johnson syndrome (SJS), drug rash with eosinophilia and systemic symptoms (DRESS) and acute generalized exanthematous pustulosis (AGEP). STATISTICAL ANALYSIS: Z test was used to compare two proportions. Kappa statistic, sensitivity, specificity, positive predictive value, and negative predictive value of the frozen section diagnosis were calculated in TEN/SJS and DRESS using MedCalc software. RESULTS: Frozen and paraffin sections were done in TEN/SJS spectrum (13), DRESS (17), and AGEP (2). The sensitivity, specificity and kappa values for frozen section diagnosis in SJS/TEN and DRESS were 91.7%, 95%, 0.867 and 94.4%, 100%, 0.937 respectively. The concordance between frozen and paraffin section diagnosis was 100% in TEN, SJS, DRESS and AGEP. All the 6 patients with TEN and 2 with AGEP survived. Taking the worst-case scenario, the mortality in SJS was 28.6%. The mortality among patients with DRESS was 11.8%. CONCLUSIONS: Frozen section helps in the rapid diagnosis and early treatment of SCARs and differentiates it from diseases that mimic it.