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Article

Classifying novel DSG1 variants on disease severity in SAM syndrome and palmoplantar keratoderma.

Journal of dermatological science - 1 Mar 2026

Rossel Vanya S V J, van der Velden Jaap J A J, Janssen Renske, Callewaert Bert L, Beyens Aude, Morice-Picar Fanny, Vreeburg Maaike, van den Akker Peter C, Maas Saskia M, Diercks Gilles F H, Gostyński Antoni H, Bolling Marieke C, Steijlen Peter M, van Gisbergen Marike W, van Geel Michel

Abstract excerpt

BACKGROUND: Biallelic pathogenic variants in DSG1 encoding desmoglein 1 cause severe atopic dermatitis, multiple allergies, and metabolic wasting (SAM) syndrome, whereas heterozygous variants result in palmoplantar keratoderma (PPK). OBJECTIVES: Here we investigate genetic variants, pathophysiology and clinical findings of three patients with SAM syndrome and eleven patients diagnosed with PPK. METHODS: Genetic...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 41781296
DOI: 10.1016/j.jdermsci.2026.01.007

Genes

DSG1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026.

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