Trichothiodystrophy (PIBIDS)

• AR, mutation in gene ERCC2 (XPD protein) and ERCC3 (XPB protein) in NER pathway, sulfur deficiency in hair
• PIBIDS: Photosensitivity (50%), ichthyosis (variable severity), brittle hair (alternating bright and dark bands known as “tiger tail,” flattened hair shafts like a ribbon), intellectual impairment, decreased fertility,
  short stature, receding chin, protruding ears