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Article

A novel SERPINA12 variant and first European patients with diffuse palmoplantar keratoderma.

Journal of the European Academy of Dermatology and Venereology : JEADV - 1 Feb 2024

Brandt E, Harjama L, Elomaa O, Saarela J, Donner K, Lappalainen K, Kivirikko S, Ranki A, Kere J, Kettunen K, Hannula-Jouppi K

Abstract excerpt

BACKGROUND: Hereditary palmoplantar keratodermas (hPPKs) comprise a heterogeneous group of skin disorders characterized by persistent palmoplantar hyperkeratosis. Loss-of-function variants in a serine peptidase inhibitor, SERPINA12, have recently been implicated in autosomal recessive diffuse hPPK. The disorder appears to share similarities with another hPPK associated with protease overactivity, namely...

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PMID: 37684051
DOI: 10.1111/jdv.19498

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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