Figure 14.

TRPM4 gain-of-function mutations cause progress symmetric erythrokeratodermia (PSEK). A. Two example pedigrees containing the I1040T mutation. B. Erythematous hyperkeratotic plaques on the patient’s hands and feet. C. Affected skin shows psoriasiform hyperplasia with focal parakeratosis and mild perivascular lymphocytic infiltration in the superficial dermis. D. Increased current responses of TRPM4 mutants. E. Comparison of the I-V relationship between TRPM4 wildtype and mutants. Modified from Wang et al. (136) with permission.