21 citations
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April 2000 in “Journal of Cutaneous Pathology” This case report describes a 22-year-old woman with a nevoid plaque termed localized follicular hamartoma, characterized by skin-colored papules and specific cellular and structural features.
19 citations
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November 1985 in “Archives of Dermatology” This case study documented a black male newborn developing large bullae that healed with hypopigmentation, suspecting proteolytic enzymes in keratinocytes caused the collagenolysis responsible for the condition.
5 citations
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April 2017 in “The journal of investigative dermatology/Journal of investigative dermatology” This study reports on an ongoing Phase I/IIa clinical trial of ex vivo gene therapy for treating severe Recessive Dystrophic Epidermolysis Bullosa, involving six adult participants with COL7A1 mutations resulting in deficient type VII collagen production.
1 citations
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May 2024 in “Journal of Dermatological Science” In this study, KC-AD-MSCs were found to increase COL7 deposition and anchoring fibril formation at the dermal-epidermal junction in a RDEB mouse model, suggesting potential for improving skin integrity in recessive dystrophic epidermolysis bullosa patients.
1 citations
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September 2019 in “Journal of Investigative Dermatology” In this study, researchers used a CRISPR-based method to correct mutations in the COL7A1 gene in stem cells from RDEB patients, restoring normal collagen expression in engineered skin grafts in mice.