Vitamin D Dependent Rickets 2A With Alopecia: Three Cases With Novel Genetic Variants.

Vitamin D-dependent rickets type 2A (VDDR2A) is a rare cause of infantile-onset alopecia, characterized by severe hypotrichosis, small cutaneous cysts, early-onset treatment-resistant rickets, and hypocalcemia. Alopecia, often starting a few weeks to months after birth, may be the presenting feature. We present three cases of VDDR2A with genetic variants in the vitamin D receptor (VDR) gene, their clinical features and biochemical parameters.

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.

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.

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.

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.

Homozygous variant presenting as infantile erythroderma.

A wide range of inherited and acquired conditions can manifest as infantile erythroderma, among which -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.

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.

Reliability and Validity of the Adolescence Stress Scale (ADOSS) for Indian Adolescents.

Background: Stress levels increase tremendously in adolescence. Indian adolescents derive much of their stress from school and family pressures. Developing a standardized tool to assess adolescent stress can help early diagnosis.

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.

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.

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.

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.

Clinicopathological Profile of Childhood Onset Cutaneous Mastocytosis from a Tertiary Care Center in South India.

Background: Mastocytosis is characterized by clonal proliferation of mast cells in various organs and can have isolated cutaneous or systemic involvement. Childhood-onset mastocytosis (COM) is usually cutaneous and regresses spontaneously, while adult-onset mastocytosis (AOM) is often persistent with systemic involvement. There is limited data on COM from India.

Paraneoplastic Autoimmune Multiorgan Syndrome: A Retrospective Study from a Tertiary Care Center in South India.

Background: Paraneoplastic autoimmune multiorgan syndrome (PAMS), first described as paraneoplastic pemphigus (PNP) is a heterogeneous autoimmune syndrome with a diverse spectrum of clinical and immunopathological features associated with an internal neoplasm.

Materials And Methods: The details of the patients diagnosed with PAMS/PNP from an Indian tertiary center between January 2010 to December 2019 were retrieved from the hospital database. The clinical manifestations, histopathological features, immunofluorescence findings, and other relevant clinical details were obtained.

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.