Autosomal recessive Congenital Ichthyosis (ARCI) is a rare inherited skin disorder that is characterized by dry, desquamated, FISH-like scaling of the skin usually with erythema. The disease is named ichthyosis as the Greece word "Ichthy" means FISH. Most infants are born as collodion babies (infants born with bright red, shiny, translucent, and drawn tight skin, resulting in immobilization). Patients develop redness, blistering and peeling of the skin since birth or by 6 months of age. Fluid-filled blisters can become infected and cause foul skin odor. Losing water through the skin leads to dehydration of the neonates. Because the skin is not properly functions, bacteria can enter the blood through this insufficient barrier. Few days after the initial blistering, scaling develops.
Clinical presentation and severity of ARCI may vary widely ranging from Harlequin ichthyosis (the most severe and often fatal), to lamellar ichthyosis (LI) and non-bullous congenital ichthyosiform erythroderma (NCIE). LI differs from NCIE in the scales properties. In LI, the scales are large, adherent, dark, and pigmented with no erythroderma. The NCIE form has fine and white scales on an erythematous background, although the scales are larger and grayish on the limbs. The incidence rate is estimated to be between 1:300,000 and 1:500,000 for the different forms of the disease. Boys and girls of all races and ethnicities are equally affected.