Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.

Background: Dystrophic epidermolysis bullosa (DEB) is due to variation in the COL7A1 gene. The clinical phenotype and severity depends on the type of variation and domain of the affected protein.

Objectives: To characterize the spectrum of COL7A1 variations in a cohort of DEB patients from India, to correlate these findings with clinical phenotypes and to establish a genotype-phenotype correlation.

Clinical heterogeneity in epidermolysis bullosa simplex with plectin (PLEC) mutations-A study of six unrelated families from India.

Epidermolysis bullosa simplex (EBS) with plectin mutations is a very rare subtype of EB usually associated with pyloric atresia (PA) or muscular dystrophy (MD). We report six unrelated children between ages 4 and 14 years from India with varied clinical manifestations. Only one had PA, and none has developed MD to date.

Silvery hair with dyschromatosis: Griscelli syndrome type 3 or familial gigantic melanocytosis.

We herein illustrate a case of an adult male presenting with silvery hair and generalized guttate hypopigmented macules on a background of diffuse cutaneous hyperpigmentation, since birth. Histopathology showed enlarged melanocytes with abundant melanin. Based on these clinicopathological features, differential diagnoses considered were Griscelli syndrome 3 (GS3) and familial giagantic melanocytosis.

Fluoroscopy-induced chronic radiation dermatitis masquerading as morphea: A diagnostic pitfall.

Chronic radiodermatitis is a rare complication of fluoroscopy-guided procedures. The diagnosis of fluoroscopy-induced chronic radiation dermatitis is challenging because of its rarity, late insidious onset, and close clinicopathological resemblance to morphea. We report two cases of fluoroscopy-induced chronic radiodermatitis following cardiac procedures to highlight the clinicopathological features.

Lymphocutaneous Sporotrichosis Treated with Potassium Iodide with Development of Subclinical Hypothyroidism: Wolff-Chaikoff Effect?

Sporotrichosis is a subcutaneous mycotic infection caused by that is acquired by traumatic implantation. The diagnosis is established by demonstration of fungal elements on histopathology and culture. Potassium iodide, azole antifungals, and terbinafine are the treatment options available.

A rare case of unilateral discoid lupus erythematosus mimicking lupus vulgaris.

Discoidlupus erythematosus (DLE) is a chronic type of cutaneous lupus erythematosus which can present in various morphologies, and the diagnosis can be rather confounding. Prompt evaluation and treatment is necessary to prevent disfigurement and systemic involvement associated with DLE. The following case presented a diagnostic dilemma as the lesion mimicked lupus vulgaris.

Tumor of follicular infundibulum: an unsuspected cause of macular hypopigmentation.

We present three cases of a rare eruptive variant of tumor of follicular infundibulum. Two patients presented with hypopigmented macules. The clinical differential diagnoses considered in these two cases were vitiligo, lichen sclerosus et atrophicus, and idiopathic guttate hypomelanosis.

Argyria an unrecognized cause of cutaneous pigmentation in Indian patients: a case series and review of the literature.

Argyria is an uncommon grey-blue pigmentation of skin and mucous membranes caused by prolonged silver exposure. The impetus behind this review is our experience with cases of generalized argyria resulting from a uniquely Indian socio-cultural practice and belief that it is under reported. Our objective is to increase the awareness for this esoteric entity through a review of the pertinent literature and to highlight clinical and histological features using our four well worked-up cases as examples.

Etiology and risk factors associated with a pruritic papular eruption in people living with HIV in India.

Introduction: Papulopruritic eruption (PPE) occurs in people living with HIV in India. Understanding the risk factors associated with this disease may help decrease the prevalence of PPE.

Methods: This study was a case-control study performed at the Government Hospital of Thoracic Medicine, a tertiary care hospital in Chennai, India.

Clinicopathological correlation of acquired hypopigmentary disorders.

Acquired hypopigmentary disorders comprise a significant group of disorders that affect Indians and Asians. The pigment disturbance in darker skin individuals can be very distressing to the patient and the family. These disorders cover a wide array of pathologies including infections, autoimmune processes, lymphoproliferative disorders, and sclerosing diseases.

Clinicopathological correlation of acquired hyperpigmentary disorders.

Acquired pigmentary disorders are group of heterogenous entities that share single, most significant, clinical feature, that is, dyspigmentation. Asians and Indians, in particular, are mostly affected. Although the classic morphologies and common treatment options of these conditions have been reviewed in the global dermatology literature, the value of histpathological evaluation has not been thoroughly explored.

Porokeratotic eccrine ostial and dermal duct nevus.

Porokeratotic eccrine ostial and dermal duct nevus (PEODDN) is a rare variant of porokeratosis with characteristic histological feature of cornoid lamella involving the acrosyringium. We report a classic case of a 20-year-old male, who clinically presented to us with keratotic papules and plaque with pits, few having comedo like plugs, on right palm and sole since 1 year of age. A punch biopsy from palm was diagnostic as well as confirmatory showing cornoid lamella involving an eccrine duct which is the characteristic histopathological feature of PEODDN.