Figure 1.

Pedigree structures, cutaneous features and histopathology of skin in the families with autosomal recessive follicular hyperkeratosis, PPK and bilateral sensorineural deafness. (a) Family pedigrees with autosomal recessive inheritance. Note the clinically unaffected parents of the affected individuals, consistent with autosomal recessive inheritance. (b-d) Skin examination of the proband in Family 1 (identified by an arrow in a1) revealed multiple discrete hyperkeratotic projections centering on hair follicles in a wide-spread distribution with scalp findings. (e) focal keratoderma of the soles with punctate pits consistent with PPK in patient no. 9 of Family 2. (f) On the backs of the hands of the proband (IV-1) these lesions formed well demarcated plaques separated by normal appearing skin. Note the white nails on the hands as part of leukonychia totalis hyperkeratosis plugs (f1), and hypertrophic cuticle (f2). (g, h) Palm of the proband (IV-1) with hyperkeratosis and accentuated creases which contain punctate pits (h).

(j) Histopathology of a skin lesion delineated in (i) revealed a parakeratotic column of hyperkeratotic skin invaginating into epidermis (j1). The granular layer is absent and the underlying epidermis is pale consisting of cells with perinuclear halo (j2).