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CYP4F22-nEDD

Previously: Lamellar ichthyosis, CIE, ARCI

nEDD Gene: CYP4F22 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

CYP4F22-nEDD: skin thickening and scaling on the dorsum of the hand.

Key Clinical Clues

Generalized mild scaling, but some cases are severe, can present with collodion membranes, sometimes self-improving.

References

Lefèvre C, Bouadjar B, Ferrand V et al. Mutations in a new cytochrome P450 gene in lamellar ichthyosis type 3. Hum Mol Genet 2006; 15:767-76. || Noguera-Morel L, Feito-Rodríguez M, Maldonado-Cid P et al. Two cases of autosomal recessive congenital ichthyosis due to CYP4F22 mutations: expanding the genotype of self-healing collodion baby. Pediatr Dermatol 2016; 33:e48-51.

Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer