PNPLA1-nEDD

Previously: Lamellar ichthyosis, CIE, ARCI

nEDD Gene: PNPLA1 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

PNPLA1-nEDD: sharply demarcated scaly erythema on the legs (formerly known as erythrokeratodermia variabilis et progressiva).

Key Clinical Clues

Collodion membrane at birth, generalized mild scaling; more severe lamellar scaling is rare.

References

Grall A, Guaguère E, Planchais S et al. PNPLA1 mutations cause autosomal recessive congenital ichthyosis in golden retriever dogs and humans. Nat Genet 2012; 44:140-7.

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