Autosomal Syndromic Ichthyosis

Cednik syndrome

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

Cednik syndrome is a neurocutaneous syndrome characterized by serious anomalies in the development of the nervous system and an anomalous differentiation of the epidermis that causes death in the first decade of life of the affected person.

At the skin level, it presents symptoms similar to those of lamellar ichthyosis.

Extracutaneous manifestations are severe: cerebral dysgenesis, neuropathy, microcephaly, muscle and optic nerve atrophy, psychomotor retardation, intellectual disability, deafness, and facial dysmorphia.