| 概要 |
Congenital erythroderma with palmoplantar keratoderma, hypotrichosis, and hyper-IgE (EPKHE) is a rare genetic syndrome characterized by severe dermatitis, multiple allergies, and metabolic wasting. Pathogenic variants in DSG1 have been identified as the cause of this disorder. DSG1 encodes desmoglein 1, a key component of desmosomes, which anchor the cell surface to the keratin cytoskeleton and play an essential role in maintaining epidermal integrity and barrier function.
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| 著者 |
Samuelov L, Sarig O, Harmon RM, Rapaport D, Ishida-Yamamoto A, Isakov O, Koetsier JL, Gat A, Goldberg I, Bergman R, Spiegel R, Eytan O, Geller S, Peleg S, Shomron N, Goh CSM, Wilson NJ, Smith FJD, Pohler E, Simpson MA, McLean WHI, Irvine AD, Horowitz M, McGrath JA, Green KJ, Sprecher E |
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