Autosomal Syndromic Ichthyosis

Gaucher syndrome type 2


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

Type 2 Gaucher syndrome is a fatal disease (life expectancy is around 2 years).

At the skin level, the baby presents itself at birth as a mild collodion baby (similar to the symptoms of ichthyosiform congenital erythroderma) with fine scaling that can resolve after the neonatal period.

It is associated with other pathologies such as neurological involvement, hypotonia, respiratory distress or facial anomalies.