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GJB2-pEDD-spiny keratoderma

Previously: Punctate PPK type II (PPPK II)

pEDD Gene: GJB2 Mosaic

Onset: Childhood

Pathway: Channels

Category Paper: pEDD Paper

Key Clinical Clues

Spinous keratoses over palms and soles (music box-like spines).

Treatment

Potential for antisense oligonucleotides, mAbs (Mammano, 2024).

References

Eskin-Schwartz M, Metzger Y, Peled A et al. Somatic mosaicism for a "lethal" GJB2 mutation results in a patterned form of spiny hyperkeratosis without eccrine involvement. Pediatr Dermatol 2016; 33:322-6.

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