Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation (EBS2F)

Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation, also known as epidermolysis bullosa simplex with mottled pigmentation, is related to autosomal dominant generalized epidermolysis bullosa simplex, intermediate form and epidermolysis bullosa simplex, and has symptoms including pachyonychia An important gene associated with Epidermolysis Bullosa Simplex 2f, with Mottled Pigmentation is KRT5 (Keratin 5), and among its related pathways/superpathways are Keratinization and COPI-independent Golgi-to-ER retrograde traffic. Affiliated tissues include skin, and related phenotypes are abnormal blistering of the skin and mottled pigmentation