X-linked Syndromic Ichthyosis

Conradi-Hünermann-Happle syndrome

  • Beginning: Birth / Childhood.
  • Clinical picture: Moderate / Severe.
  • Syndromic: It does affect other organs.

Its main symptoms are, at the cutaneous level, an ichthyosis type congenital ichthyosiform erythroderma that evolves to linear hyperkeratosis.

Other extracutaneous manifestations such as facial dysmorphism, cataracts and other ocular anomalies, short stature, and short extremities.