A case of congenital absence of skin secondary to the self-i
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The self-improving subtype of dystrophic EB (SI-DEB), previously known as bullous dermolysis of the newborn, is a rare form characterized by generalized blisters at birth that rapidly improves during the first days or months of life.

A newborn, African-American female was evaluated for the absence of skin on the left lower extremity following uncomplicated pregnancy and delivery at 36 weeks. She has three half-siblings on her paternal side with no history of skin or blistering disorders.

At birth, she had absence of skin on the anteromedial left lower leg extending down through the dorsum of the foot and toes. She also had several ulcerations on the face, anterior right wrist, dorsum of the left hand, and abdomen. The primary lesion on her leg was treated conservatively with antibiotic ointment and gentle wound care. On Day 15, multiple new erosions appeared on her face, trunk, hands, and feet. IF mapping studies on a biopsy of an induced lesion revealed cytoplasmic granular deposits of type VII collagen in basilar and suprabasilar cells. On day 36, keratinization was noted in the primary leg lesion.

From infancy through age five, she had recurring blistering episodes on her bilateral lower extremities 3-4 times per year. The lesions tend to develop following minor mechanical trauma and typically self resolve with minimal scarring. In sum, the initial presentation at birth, biopsy with immunofluorescence mapping, and subsequent clinical course favors a diagnosis of CAS secondary to SI-DEB with recurrent blisters throughout childhood. Her family was offered but refused genetic sequencing.

Source: https://www.jaadcasereports.org/article/S2352-5126(20)30826-2/fulltext?rss=yes
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