Figure 2.

Subjects Heterozygous for ASPRV1 Mutations Display a Consistent Skin Phenotype

(A–E) Subject 292-2. There are large, plate-like, geometric scales over the back and posterior arms (A) and shins (B), corrugated hyperkeratosis over the extensor wrist and dorsal hand (C), and hyperlinearity of the foot, with large, plate-like, adherent scale and a few fissures of the heel (D). Histology (E) shows acanthosis, compact orthohyperkeratosis, and a prominent stratum granulosum with coarse keratohyalin granules containing filaggrin (asterisk).

(F–J) Subject 1099. There is similar scale on the back (F), with larger plate-like scale on the lower extremities and feet (G), corrugated hyperkeratosis and smoothened scale over the hand (H), marked hyperlinearity of the feet with thick hyperkeratosis and many deep fissures (I), and hyperlinearity and hyperkeratosis of the palms with evidence of constricting bands of hyperkeratosis (pseudoainhum) on multiple digits (J).