X-Linked Recessive Ichthyosis - Key Clinical Features

Skin abnormalities

  • polygonal dark scales (2/3 of the patients)
  • light gray hyperkeratosis (1/3 of the patients)
  • axillae and popliteal fossae may be involved
  • lack of hyperlinear palms and soles

Others

  • delayed cervical dilatation at birth
  • testicular maldescent or cryptorchidism
  • corneal opacities (normally not clinically relevant)