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.

Perineal warty plaques: A case of verrucous porokeratosis.

Nonvenereal genital dermatoses form an important category of disorders, and verrucous porokeratosis is a rare and less recognized entity among the same. We present the case of a young adult male with warty growths over scrotum and buttocks for a year. Characteristic cornoid lamellae with typical differentiating features were seen in the histopathology, establishing the diagnosis.

Relevant diagnostic implications of the therapeutic challenge with antitubercular therapy in an unusual case of sarcoidosis mimicking lupus vulgaris.

Cutaneous manifestations in sarcoidosis are seen in 25-35% of patients with systemic disease and may be the sole manifestation in few patients. It is known that isolated cutaneous sarcoidosis is a great mimicker and can be easily misdiagnosed as other granulomatous conditions especially lupus vulgaris in regions with high burden of tuberculosis (TB). Here we present a case with cutaneous sarcoidosis who was initially misdiagnosed and treated as bifocal lupus vulgaris with antitubercular therapy (ATT) for 6 months.

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.