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The index case, a resident of Chandigarh, presented at 2 years age with history of blistering skin lesions from day 2 of life. The blisters contained clear or blood-tinged fluid, 7–10 lesions developed every week, and these ruptured spontaneously, and did not involve cheeks, chin, soles or genitalia. Healing resulted in scarring and depigmentation. There was also dysphagia to solids, delayed developmental milestones and breath-holding spells. Her weight was 7.8 kg (<3rd centile) and height was 79 cm (<5th centile). She …
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