Ichtyosis - Kinderneurologie

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Home Onderwijsplein DD lijst Huidafwijkingen 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
Hyperkeratose
- CEDNIK
- Darier-White syndroom
- Hailey-Hailey
- Protoporfyrie
- Tyrosinemie type II (handpalmen en voetzolen)