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NIPAL4-nEDD

Previously: Lamellar ichthyosis, CIE, ARCI

nEDD Gene: NIPAL4 AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

NIPAL4-nEDD: reticulated scaling on the abdomen with a brownish hue, creating a pebblestone-like appearance.

Key Clinical Clues

Moderate-to-severe generalized scaling with no, mild or moderate erythema and PPK. Rarely presents with collodion membrane.

References

Lefèvre C, Bouadjar B, Karaduman A et al. Mutations in ichthyin a new gene on chromosome 5q33 in a new form of autosomal recessive congenital ichthyosis. Hum Mol Genet 2004, 13:2473-82. || Hotz A, Fölster-Holst R, Oji V et al. Erythrokeratodermia variabilis-like phenotype in patients carrying ABCA12 mutations. Genes (Basel) 2024; 15:288.

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