SERPINB7-pEDD

Previously: PPK, Nagashima type

pEDD Gene: SERPINB7 AR

Onset: Infancy

Pathway: Enzymes and their inhibitors

Category Paper: pEDD Paper

SERPINB7-pEDD: the upper panel before immersion in water shows typical mild, diffuse, erythematous palmar keratoderma; the lower panel shows a white, spongy appearance after immersion in water.

Key Clinical Clues

Erythema, less skin thickening, common dermatophyte superinfection; worsening upon immersion in water (aquagenic).

Additional Cutaneous Features

More common in people of East Asian ancestry, aquagenic

Treatment

Topical gentamicin for nonsense mutations (Ohguchi, 2018).

References

Kubo A, Shiohama A, Sasaki T et al. Mutations in SERPINB7, encoding a member of the serine protease inhibitor superfamily, cause Nagashima-type palmoplantar keratosis. Am J Hum Genet 2013; 93:945-56.

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