Article
Ichthyosis, psoriasiform dermatitis, and recurrent fungal infections in patients with biallelic mutations in PERP.
Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Mar 2022
Youssefian L, Khodavaisy S, Khosravi-Bachehmir F, Park J S, Saeidian A H, Mahmoudi H, Saffarian Z, Naraghi Z S, Kamyab-Hesari K, Zeinali S, Vahidnezhad H, Uitto J
Abstract excerpt
BACKGROUND: Germline autosomal dominant and autosomal recessive mutations in PERP, encoding p53 effector related to PMP-22 (PERP), a component of epidermal desmosomes, have been associated with a spectrum of keratodermas. Monoallelic nonsense mutations cause Olmsted syndrome with severe periorificial keratoderma and palmoplantar keratoderma (PPK). Biallelic recessive frameshift and missense mutations are...
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