Progressive symmetrical erythrokeratoderma associated with biallelic PNPLA1 variants

British Journal of Dermatology 2026 Open access

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Authors: Xingyuan Jiang, Caroline M. Echeandia-Francis, Mitra V. Mani, Martin Hyden, Bernhard Lange-Asschenfeldt, Rainer Hügel, Ingrid Haußer, Kira Süßmuth, Vinzenz Oji, Julia Köpp, William J. Liu, Judith Fischer
+1 more K. Choate
DOI: 10.1093/bjd/ljag006
Cited by: 1
References: 8

Abstract

We describe three kindreds with progressive symmetrical erythrokeratoderma associated with recessive PNPLA1 variants, expanding the clinical spectrum of patatin-like phospholipase domain-containing protein 1 (PNPLA1)-related epidermal differentiation disorders. Affected individuals exhibited distinctive symmetrical plaques with patterned sparing, contrasting with the generalized scaling typical of PNPLA1-associated autosomal recessive congenital ichthyosis. These findings highlight genotype–phenotype variability within PNPLA1 disease and support a role for lipid pathway-specific modifiers in shaping epidermal differentiation disorder phenotypes.

Fields of Study & Subjects

Connexins and lens biology Skin and Cellular Biology Research Erythrocyte Function and Pathophysiology

Publication details

Journal / source
British Journal of Dermatology
Publisher
Oxford University Press (OUP)
Volume
194
Issue
4
Pages
806–808
Publication date
14 January 2026
Language
EN