The use of immunofluorescence antigen mapping in the diagnos
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A 15-year-old female born out of nonconsanguineous parentage presented with complaints of recurrent fluid-filled lesions at sites of trauma that healed with scarring, since 6 months of age. The patient gave a history of gradual reduction in the severity of blistering with age. Family history was negative.

The patient was of average built and nourishment, with height measuring 151 cm and weight measuring 52 kg. Local examination revealed few flaccid bullae, multiple painful erosions with reddish granulation tissue, and atrophic scars present over the buttocks, back, and bilateral upper and lower limbs, with predominance over the bony prominences of the elbows and knees. Multiple focal yellowish hyperkeratotic plaques interspersed with atrophic scarring were present on the palms and soles. All fingers and toes showed anonychia along with resorption of great toes. Postinflammatory hyperpigmentation was present predominantly over thighs, legs, back, buttocks, and around elbows. Dental examination revealed enamel hypoplasia along with yellowish discoloration of the teeth and pitting. The systemic examination was normal.

Clinical differential diagnoses in this patient included JEB (generalized intermediate), JEB (generalized severe) followed by dystrophic EB and EB simplex. Routine blood investigations were normal. Urine for porphyrins was negative. A 3-mm shave biopsy was taken from an artificially induced blister over the lower back, produced by gentle rubbing of the skin, until mild erythema was noted. The biopsy specimen was then placed in Michel's medium and transported to the laboratory for antigen mapping.

Immunofluorescence antigen mapping revealed a subepidermal split with marked reduction in staining with laminin 332. There was normal K14 staining. Staining with Type IV and Type VII collagen was seen on the floor. Based on the above clinical and investigatory findings, a diagnosis of JEB (generalized intermediate) was made. An intensive preventive program including wound care, avoidance of trauma, oral hygiene, and genetic counseling was instituted. The patient is under regular follow-up.

source: https://www.ijpd.in/article.asp?issn=2319-7250;year=2020;volume=21;issue=4;spage=287;epage=293;aulast=Dhingra
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