Currently submitted to: JMIR Dermatology
Date Submitted: Sep 15, 2026
Open Peer Review Period: Sep 30, 2026 - Nov 25, 2026
(currently open for review)
Warning: This is an author submission that is not peer-reviewed or edited. Preprints - unless they show as "accepted" - should not be relied on to guide clinical practice or health-related behavior and should not be reported in news media as established information.
Cutaneous Sentinel Findings in Desmosomal Cardiocutaneous Disease: A Scoping Review of Carvajal Syndrome and Naxos Disease
ABSTRACT
Background:
Naxos disease and Carvajal syndrome are rare inherited cardiocutaneous disorders caused by pathogenic variants in desmosomal proteins and characterized by distinctive dermatologic and cardiovascular manifestations. Because cutaneous findings frequently precede cardiac disease, early recognition may facilitate timely diagnosis and intervention.
Objective:
This scoping review aimed to characterize the dermatologic and cardiovascular manifestations of these syndromes, examine genotype-phenotype relationships, and evaluate the role of cutaneous findings in early detection.
Methods:
A scoping review was conducted in accordance with the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews (PRISMA-ScR) guidelines using the Arksey and O’Malley framework. PubMed, Embase, Scopus, and Web of Science were searched. Studies involving patients with Naxos disease and/or Carvajal syndrome that reported dermatologic manifestations were included. Data regarding clinical presentation, genetics, age of onset, cardiac manifestations, and outcomes were extracted and synthesized.
Results:
A total of 20 studies met inclusion criteria. Desmosomal gene mutations were identified in most studies, with desmoplakin (DSP) mutations representing the most frequently reported genetic abnormality. Woolly hair (n=19), palmoplantar keratoderma (n=17), and nail abnormalities (n=6) were the most common dermatologic manifestations. Cutaneous findings generally developed at birth or during early childhood and frequently preceded cardiovascular manifestations. Cardiac disease most commonly included cardiomyopathy, ventricular arrhythmias, heart failure, and sudden cardiac death. Dermatologic findings preceded cardiac manifestations in approximately 70-80% of reported cases and frequently prompted diagnostic evaluation and cardiology referral.
Conclusions:
Recognition of woolly hair and palmoplantar keratoderma may facilitate earlier cardiac screening, genetic evaluation, and multidisciplinary management. Clinical Trial: N/A scoping review
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