Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk

Gram, Stine Bjørn; Brusgaard, Klaus; Bygum, Anette; Christensen, Alex Hørby; Ousager, Lilian Bomme

doi:10.1111/1346-8138.17192

The Journal of Dermatology

2024

DOI: 10.1111/1346-8138.17192

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Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk

Stine Bjørn Gram,

Klaus Brusgaard,

Anette Bygum

et al.

Abstract: Clinical presentation showing (a) plantar keratoderma on pressure points and (b) curly hair. e144 | GRAM et al.with DSP variants are still not fully understood and may not be uniformly present across all affected family members. 1 However, sudden life-threatening cardiac events may be the initial manifestation and cardiac evaluation of at-risk individuals is crucial. Consequently, the presence of both palmoplantar keratoderma and curly hair serves as an unexpected, yet vital diagnostic indicator for a potentia… Show more

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Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma

Gram,

Brusgaard,

Lei

et al. 2024

JAMA Dermatol

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ImportancePalmoplantar keratoderma poses diagnostic challenges due to its clinical and genetic heterogeneity, and knowledge on the value of systematic genetic testing on clinically well-described patient cohorts is sparse.ObjectiveTo improve knowledge of the clinical and genetic spectrum of patients with palmoplantar keratoderma.Design, Setting, and ParticipantsThis cohort study prospectively recruited patients and affected family members with palmoplantar keratoderma between September 1, 2016, and December 31, 2022. Patients were recruited from private practitioners in dermatology and dermatology departments in Denmark. Study participants were patients 18 years or older either newly diagnosed with palmoplantar keratoderma or being followed up for the disease at referral centers.Main Outcomes and MeasuresPhenotypes and clinical subtypes were classified. Genetic testing was performed by whole-exome or genome sequencing using an in silico panel containing genes related to palmoplantar keratoderma, or by Sanger sequencing for specific variants. Descriptive analysis, such as proportions and frequency, were used to describe clinical characteristics, distribution of disease-causing variants, and genotype-phenotype associations.ResultsThis study included 142 study participants from 76 families (90 [63%] female; median [range] age, 52 [18-92] years). Clinical subtypes included 42 punctate (55%), 26 diffuse (34%), 5 focal (7%), and 3 striate (4%). A genetic diagnosis was found in 63 of 76 families (83%), including 27 disease-causing variants within 13 different genes: AAGAB (n = 39), DSG1 (n = 8), KRT1 (n = 3), DSP (n = 2), KRT9 (n = 2), AQP5 (n = 2), KRT16 (n = 1), SERPINA12 (n = 1), ABCA12 (n = 1), COL7A1 (n = 1), CARD14 (n = 1), DST (n = 1), and LORICRIN (n = 1). All participants with AAGAB variants presented with punctate palmoplantar keratoderma, showing a clear genotype-phenotype correlation. The other subtypes (diffuse, focal, and striate) proved more challenging to clinically subclassify, and disease-causing variants were identified in 12 genes, contributing to more complex genotype-phenotype patterns. Patients with palmoplantar keratoderma due to DSP variants were found, which is important to identify because of an associated risk of cardiomyopathy.Conclusion and RelevanceThis study provides novel insights into the clinical and genetic spectrum of patients with palmoplantar keratoderma. It demonstrates the value of genetic testing for accurate diagnoses and to distinguish between different subtypes. The established and well-described cohort lays the foundation for future research in palmoplantar keratoderma.

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Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma

Gram,

Brusgaard,

Lei

et al. 2024

JAMA Dermatol

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Plantar keratoderma and curly hair as a diagnostic clue of cardiomyopathy risk

Cited by 1 publication

References 5 publications

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma

Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma

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