Autosomal Syndromic Ichthyosis

Refsum disease

  • Beginning: Childhood.
  • Clinical picture: Severe / Very severe.
  • Syndromic: Associated with neurological disorders.

Refsum’s disease is a rare progressive degenerative disease of fat metabolism, due to the inability of these children to break down the phytanic acid in the diet and therefore accumulates in the tissues

The associated manifestations are highly variable including neurological, cardiac, bone alterations… Ichthyosis, of variable degree, develops in adult life after the rest of the manifestations. The treatment of this disease consists of the restriction of foods that contain this substance that cannot be metabolized (phytanic acid) and this way its progression can be stopped.