Clinical and Molecular Features in a Cohort of Middle Eastern Patients With Epidermolysis Bullosa

October 2023 in “ Pediatric dermatology ”

Shir Bergson, Daniel Daniely, David Bomze, Janan Mohamad, Kiril Malovitski, Odile Meijers, Valeria Briskin, Ofer Bihari, Natalia Malchin, Shirli Israeli, Jacob Mashiah, Tzipora C. Falik‐Zaccai, Emily Avitan‐Hersh, Marina Eskin‐Schwartz, Stavit Allon‐Shalev, Ofer Sarig, Eli Sprecher, L. Samuelov

epidermolysis bullosa EB simplex dystrophic EB junctional EB Kindler EB alopecia nail abnormalities poikiloderma EB EBS DEB JEB KEB

Studysummary This study found that Middle Eastern patients with epidermolysis bullosa show specific correlations between their genetic variants and clinical features, which may aid in diagnosis and genetic counseling.

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research Pathogenesis and Clinical Features of Alopecia in Epidermolysis Bullosa: A Systematic Review

June 2019 in “Pediatric Dermatology”

This review discusses the pathogenesis and clinical presentations of alopecia in epidermolysis bullosa patients, noting diverse hair abnormalities and emphasizing the lack of a consensus on its natural history.

research Type XVII Collagen Coordinates Proliferation in the Interfollicular Epidermis

124 citations , July 2017 in “eLife”

This study found that COL17 deficiency in neonatal mice causes abnormal skin cell proliferation due to disrupted Wnt signaling, while replenishing or overexpressing COL17 can reverse this effect in both neonatal and aged skin.