Fig. 3From: MBTPS2, a membrane bound protease, underlying several distinct skin and bone disordersClinical and radiographic images of patients with IFAP or OI caused by MBTPS2 mutations. a, b A patient with IFAP harboring the p.R429H mutation in MBTPS2 exhibited alopecia, ichthyotic scaling, scaly hyperkeratotic plaques over scalp, hyperkeratosis, and dystrophic nails c, d A patient with OI harboring p.N459S mutation in MBTPS2 exhibited a severely anterior angulation of legsBack to article page