Figure 4. Representative clinical phenotypes and histopathology associated with the four genotypes.
From left to right, pedigree charts, clinical phenotypes and the corresponding histopathology photos are shown correspondingly. (A) Family (F)-42 proband with MVK mutation showed giant hyperkeratotic plaque-type porokeratosis ptychotropica. (B) F-60 proband with PMVK mutation showed tumor-like porokeratoma in the genitogluteal region. (C) F-36 proband with MVD mutation showed discrete, red-brown annular keratotic papules or maculopapules on the chest. (D) F-47 proband with FDPS mutation showed multiple, small, superficial, annular papules with thread-like ridges on the legs. All histopathology showed cornoid lamella, a histological hallmark of porokeratosis with vertical columns of parakeratosis overlying an area of hypogranulosis with dyskeratotic cells.