Autosomal Syndromic Ichthyosis

Multiple sulfatase deficiency

  • Beginning: Childhood.
  • Clinical picture: Lethal.
  • Syndromic: It does affect other organs.

It is a rare and serious disease, with a life expectancy close to one year of life in the most severe cases.

At the skin level, symptoms are similar to X-linked recessive ichthyosis.

It presents a series of serious extracutaneous manifestations such as: hypotonia, mild deafness, psychomotor and neurological deterioration, developmental delay, hydrocephalus or damage to the nervous system, kidneys, gallbladder and other organs due to metachromatic leukodystrophy, among others.