POMP-nEDD

Previously: KLICK syndrome

nEDD Gene: POMP AR

Onset: Birth

Pathway: Miscellaneous

Category Paper: nEDD Paper

Key Clinical Clues

Generalized or localized skin thickening and erythema, PPK and keratotic papules in a linear arrangement, knee and elbow folds have thickening with a cerebriform appearance.

References

Dahlqvist J, Klar J, Tiwari N et al. A single-nucleotide deletion in the POMP 5' UTR causes a transcriptional switch and altered epidermal proteasome distribution in KLICK genodermatosis. Am J Hum Genet 2010; 86:596-603.

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