Ichtyosis

Sjogren-Larsson syndroom

Chanarin-Dorfmann syndroom

X-gebonden recessieve ichtyosis

Cardio-facio-cutaneous syndroom

• Metabole aandoeningen
  • CDG type If, Im
  • CEDNIK/SNARE
  • Chondroplasia punctata
  • Conradi-Hunermann syndroom
  • Gaucher type II
  • Multiple sulfatase deficientie (Austin syndroom)
  • Multisysteem triglyceride storage disease
  • Refsum
  • Serine deficientie syndroom
  • Steroide sulfatase deficientie
  • Sterol-C4-methyloxidase like gen defect

• CEDNIK
• Darier-White syndroom
• Hailey-Hailey
• Protoporfyrie
• Tyrosinemie type II (handpalmen en voetzolen)