ALOX12B-nEDD

Previously: Lamellar ichthyosis/CIE, ARCI

nEDD Gene: ALOX12B AR

Onset: Birth

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

ALOX12B-nEDD: large adherent scales on the anterior aspects of the lower legs in a patient with a darker skin phenotype.

Key Clinical Clues

Generalized mild scaling, collodion membrane, prominent erythema, anterior overfolded ear deformity, sometimes self-improving.

References

Jobard F, Lefèvre C, Karaduman A et al. Lipoxygenase-3 (ALOXE3) and 12(R)-lipoxygenase (ALOX12B) are mutated in non-bullous congenital ichthyosiform erythroderma (NCIE) linked to chromosome 17p13.1. Hum Mol Genet 2002; 11:107-13. || Harting M, Brunetti-Pierri N, Chan CS et al. Self-healing collodion membrane and mild nonbullous congenital ichthyosiform erythroderma due to 2 novel mutations in the ALOX12B gene. Arch Dermatol 2008; 144:351-6.

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