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SLC17A9-nEDD

Previously: Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli

nEDD Gene: SLC17A9 AD

Onset: Birth, infancy to adolescence

Pathway: Lipid synthesis and transport

Category Paper: nEDD Paper

Key Clinical Clues

Lesions with characteristic double-edge scales (cornoid lamella).

Additional Cutaneous Features

Lesions presenting at birth are linear, pink-to-red and scaly; disseminated lesions present in adolescence or later, primarily on sun-exposed areas and featuring round-to-oval flat lesions. Histopathology: Thickening of the stratum corneum with a parakeratotic column, cornoid lamella, at the margin of lesions.

Treatment

Topical cholesterol/lovastatin (Atzmony, 2020; Paller, 2011).

References

Cui H, Li L, Wang W et al. Exome sequencing identifies SLC17A9 pathogenic gene in two Chinese pedigrees with disseminated superficial actinic porokeratosis. J Med Genet 2014; 51:699-704.

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