Autosomal Syndromic Ichthyosis

Sjögren-Larsson syndrome

  • Beginning: Birth.
  • Clinical picture: Severe / Very severe.
  • Syndromic: It does affect other organs besides the skin.

Its prevalence is 1 in every 250,000 births.

Collodion-like membranes are not seen at birth, only erythema that gradually improves around one year of life. Ichthyosis in this case is highly variable, appearing thin, thick scales or a thickening of the stratum corneum without scales. The most affected areas are the neck on its sides and back, the lower part of the abdomen and the folds. Hair, nails, and sweating in general are normal. During the first two or three years, neurological manifestations develop with paralysis of the extremities (diplegia, spastic tetraplegia), mental retardation, speech disturbances and seizures.