Recessive Autosomal Icthyosis

Congenital Ichthyosiform Erythroderma

  • Beginning: Birth (collodion baby)
  • Clinical picture: Severe
  • Non-syndromic: Does not affect other organs besides the skin.

It belongs to the group called ARCI (Autosomal Recessive Congenital Ichthyosis)

It affects 1 in 300,000 newborns. It is evident at birth, just the same as in lamellar ichthyosis. The newborn generally appears surrounded by a tight and shiny collodion membrane. After detachment of the membrane, the skin of these newborns continues red, generally with thin white global desquamation. On the lower legs the scales may be larger and darker.

What differentiates congenital ichthyosiform erythroderma from lamellar ichthyosis is that the former doesn’t have (or very mildly) ectropion, eclabium, or alopecia.

Similar to lamellar ichthyosis, there is great variation in the ability to sweat. Patients living with this kind of ichthyosis may have minimal sweating, with severe heat intolerance. Mucous membranes are generally intact and the affectation of the palms and soles is variable. Nails may have stretch marks but they are often right.