Kittu Malhi

• Doctor of Medicine
• Junior Resident at Post Graduate Institute of Medical Education and Research

We present a compelling case of Vitamin D-dependent rickets type IIA (VDDR2a) in a young boy, emphasizing the challenges in diagnosing genetic forms of rickets, particularly in developing nations like India where nutritional rickets are prevalent. VDDR2a, stemming from VD receptor gene mutations, showcases a unique instance of tissue resistance to...

CosmoDerma 2024 • 4(137) | 1 is is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. Dear Sir...

Background Prospective research is lacking on the utility of plucked hair outer root sheath direct immunofluorescence (ORS DIF) in the prediction of relapse in pemphigus vulgaris (PV) and the correlation of ORS DIF positivity with serum desmoglein antibody titers. Methods We performed a prospective cohort study enrolling 80 PV patients in complete...

CosmoDerma 2024 • 4(65) | 1 is is an open-access article distributed under the terms of the Creative Commons Attribution-Non Commercial-Share Alike 4.0 License, which allows others to remix, transform, and build upon the work non-commercially, as long as the author is credited and the new creations are licensed under the identical terms. A 24-year...

Our case presents a rare case of verrucous discoid lupus erythematosus in a pediatric patient, with a focus on clinical and histopathological features. Our manuscript also discusses differential diagnoses, including papulonecrotic tuberculid, verrucous psoriasis, and pityriasis rubra pilaris, with a focus on histopathological clues for differentiat...

Ectodermal dysplasias are a heterogeneous group of disorders that are characterized by abnormal development of ectodermal structures like hair, teeth, nails, and sweat glands. Alhough they were earlier classified according to the structures affected and hence the clinical manifestations, recent developments inch towards a genetic basis for classifi...

Dear Editor, Leprosy, primarily affecting skin and nerves, is a slowly progressing infectious disease caused by Mycobacterium leprae and Mycobacterium lepromatosis.¹ Diagnosis is typically based on WHO cardinal signs, including hypopigmented or erythematous lesions with sensory loss, nerve thickening with impaired function, and acid fast bacilli (A...

This letter discusses an unusual presentation of Papillon–Lefèvre syndrome (PLS) in a 23-year-old male, featuring recalcitrant pyoderma gangrenosum-like ulcers, a symptom not previously associated with PLS. Genetic testing identified a novel homozygous pathogenic variant in the Cathepsin C (CTSC) gene responsible for PLS, highlighting the importanc...

Pemphigus vulgaris (PV) is a potentially lethal chronically relapsing autoimmune bullous disorder with intraepithelial lesions affecting the skin and mucous membranes. The prediction of clinical relapse has been studied with conventional skin biopsy and plucked hair direct immunofluorescence (DIF; Daneshpazhooh M, Naraghi ZS, Ramezani A et al. Dire...

Tuberous sclerosis (TS) has varied manifestations. We report a unique association of TS with piebaldism, capillary malformation and epidermoid cyst.