case_images: PMC4648218_01
case_images: a) Pedigree of the family; (
  b), (
  c) and (
  d), (
  e) correspond to the ventral and dorsal views of siblings II:1, and II:2 respectively and shows hyperpigmented fish-like scales all over the body including face and flexures, ectropion, loss of lateral half of eyebrows and hair along scalp margins. Panel (
  f) shows the chromatogram from capillary sequencing for the parents and siblings, while panel (
  g) shows the domain organization of the protein and the location of the p.Gly218Ser variation with respect to the protein domains.
case_images: f1000research-4-7283-g0000.jpg
case_images: PMC4648218_01_f1000research-4-7283-g0000.jpg
case_images: f1
case_images: Two, 8 and 6-year-old, siblings born out of a non-consanguineous marriage ( Figure 1a) presented with hyperpigmented fish-like scales all over the body including face and flexures ectropion, loss of lateral half of eyebrows and alopecia along the scalp margins ( Figure 1b-1e). Analysis revealed the variant was heterozygous in parents, while homozygous in both affected siblings ( Figure 1f).