FDFT1-nEDD
Previously: Porokeratosis, disseminated (superficial) actinic, linear, of Mibelli
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
Saito S, Saito Y, Sato S et al. Gene-specific somatic epigenetic mosaicism of FDFT1 underlies a non-hereditary localized form of porokeratosis. Am J Hum Genet 2024; 111:896-912.
Summarised from published literature for general information. This is not medical advice, and entries are still being verified. Read the full disclaimer
Clinical Trial Opportunities
This feature is coming soon.