Recessive Autosomal Icthyosis

Lamellar Ichthyosis

  • 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).

Lamellar Ichthyosis is evident at birth and affects 1 in 300,000 newborns who generally appear wrapped in a collodion membrane, a translucent covering that breaks off within 10 to 14 days. When detached, the skin may be red. Over time, large, sheet-like scales develop on the skin appearing mosaic-shaped.

In some areas the scales are attached in the middle, presenting raised edges. The largest ones are usually seen on the extremities where large, sheet-like scales, separated by superficial cracking, may appear similar to that of a dry river bed.

During childhood and adulthood the degree of erythema (red color) can vary, but the severe presentation of classic lamellar ichthyosis generally does not show erythroderma or is minimal. The affectation of palms and soles in lamellar ichthyosis goes from minimal hyperlinearity to severe keratoderma.

Lips and mucosa are usually intact, but the skin annexes (hair, nails) can be affected by firm and adherent scales. On the scalp, these scales can trap hairs and, along with skin tightening, generally cause more noticeable scarring at the ends. Hyperkeratosis can alter the normal function of the sweat glands and produce a decrease in sweating, which in extreme cases can cause severe intolerance to heat and, sometimes, overheating.

Also, the eyes in severe cases of lamellar ichthyosis must be closely and carefully watched. Due to ectropion (eyelids everted), the eyelids cannot close completely, especially during sleep, therefore hydration with artificial liquid tears during the day and ophthalmic lubricants at night will be necessary to prevent the formation of corneal ulcers.