case_images: PMC11762244_01
case_images: Clinical manifestation: Reddish papules and blisters scattered on both upper limbs (A and B) and legs (C), some densely clustered and covered with a few scales.
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case_images: Physical examination revealed scattered reddish papules and blisters on her upper and lower limbs (Figure 1).
case_images: Histopathological images of lower extremity skin lesions (Hematoxylin and Eosin): local epidermal atrophy with mild hyperkeratosis and subepidermal blister formation, hypodermal fibrous tissue hyperplasia with collagenization.
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case_images: Pathological examination of lower extremity skin lesions revealed subepidermal blister formation (Figure 2).
case_images: Immunohistochemistry: (A) Type IV collagen staining is located at the top of the blister, indicating that the fissure is located below the lamina densa. (B) Negative C4d staining.
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case_images: Skin immunohistochemistry showed that Type IV collagen staining indicated cracks beneath the dense plate (Figure 3A), and C4d staining was negative (Figure 3B).
case_images: The sequencing map: the black arrow indicates the mutation site.
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case_images: This finding was verified by Sanger sequencing of COL7A1 (Figure 4).
case_images: Protein structure prediction model: the black arrow indicates the mutation site (AlphaFold protein structure database).
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case_images: So, we showed the location of the variation of this protein in the mouse protein structure from the AlphaFold protein structure database (https://alphafold.ebi.ac.uk/entry/D3ZE04) (Figure 5).
case_images: Clinical manifestation: After 4 months of treatment, papules and blisters on both upper limbs (A and B) and legs (C) were significantly reduced, and some remained pigmentation.
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case_images: After 4 months of follow-up (Figure 6), the rash subsided remarkably, and pruritus was markedly reduced.