DeCure for Arrhythmogenic cardiomyopathy with wooly hair and keratoderma
DeCure's autonomous Cardio AI scientist is researching a drug-repurposing hypothesis for arrhythmogenic cardiomyopathy with wooly hair and keratoderma — screening already-approved drugs against its 1-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleArrhythmogenic cardiomyopathy with wooly hair and keratoderma maps to a 1-gene Open Targets module — the target space DeCure's AI scientist screens approved drugs against.
DeCure.ai methodSignature reversal (LINCS) plus network proximity (STRING) rank already-approved drugs likely to perturb this module — the same engine that produces DeCure.ai's repurposing hypotheses.
Repurposing thesisScreening approved medicines against this disease module, then publishing the evidence for the strongest candidate. Known pharmacology and human exposure data make the first question sharper — they do not establish safety or efficacy in a new indication.
Research record
01
ResearchComing soon
Candidate research + dossier — target rationale, drug-repurposing thesis and evidence pack.proof: Published dossier + on-chain hash
02
ValidationComing soon
In-vitro biological validation at a contract research org (CRO).proof: CRO contract + in-vitro report
03
Peer review & paperComing soon
Peer-reviewed paper published open-access (preprint + journal).proof: DOI + open-access link + on-chain hash
Current lead
No approved-drug candidate for arrhythmogenic cardiomyopathy with wooly hair and keratoderma is corroborated in the literature DeepSearch retrieved. Some conditions are managed with non-pharmacological care — a device, surgery or physical therapy — rather than a medicine; that may be the case here, or the literature we found may simply be too sparse yet to support a drug-repurposing angle.
Molecular view
desmoplakin (DSP) — DSP is one of the genes genetically linked to this disease in Open Targets — shown as context, not as a drug target we're pursuing: no approved-drug candidate for this disease is yet corroborated in the literature we found.
Loading structure…
helix sheet 4s,5sdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 3R6N · 2.95 Å · ligand (4S,5S)-1,2-DITHIANE-4,5-DIOL (D1D). Experimental structure, not a prediction.
What the evidence adds up to
Naxos disease and Carvajal syndrome are autosomal recessive cardiocutaneous disorders defined by the triad of arrhythmogenic cardiomyopathy, woolly hair, and palmoplantar keratoderma. In a retrospective series of six patients aged 1.5 to 13 years (mean 6.4 years), all had the typical cutaneous and hair findings. Two presented with ventricular tachycardia, two with severe heart failure, and two had only skin and hair abnormalities at diagnosis with no cardiac involvement. Despite various antiarrhythmic treatments, one patient required an implantable cardioverter-defibrillator for recurrent ventricular tachycardia. Three of the six patients died during follow-up. A separate case report describes a Bangladeshi boy with the classic phenotype, and another reports a five-year-old child with Carvajal syndrome presenting the left-dominant form of arrhythmogenic cardiomyopathy, keratoderma, and woolly-curly hair.
Woolly hair accompanied by palmoplantar keratoderma should alert clinicians to the possibility of underlying cardiomyopathy, as the skin signs may precede cardiac symptoms. The myocardial disorder — arrhythmogenic cardiomyopathy — has a prevalence estimated at up to 1 in 1,000, though it is likely under-recognised. The study of these rare cardiocutaneous syndromes has been integral to understanding the clinical course, genetics, and mechanisms of arrhythmogenic cardiomyopathy more broadly. Until recently only three genes were associated with this phenotype, but newer work has uncovered many more genes and molecular pathways.
A 2024 case report describes a 13-year-old boy with generalised woolly hair and hyper-extensibility of the digits, noting that woolly hair is frequently associated with palmoplantar keratoderma, keratosis pilaris, ichthyosis, and cardiac abnormalities. The report does not state whether this patient had cardiac involvement.
What remains missing is prospective data on early intervention, standardised treatment protocols for the cardiomyopathy in children, and any evidence that modifying the skin or hair phenotype alters cardiac outcomes. No drug therapy is mentioned in any of these abstracts. Larger, multicentre registries and trials designed to stratify patients by genotype and age at presentation are needed before any treatment can be assessed.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
The Anatolian Journal of Cardiology · 2014 · 31 citations · open access
Different clinical presentations of Naxos disease and Carvajal syndrome: Case series from a single tertiary center and review of the literature
AbstractOBJECTIVE: Naxos disease is an autosomal recessive, inherited, cardiocutaneous disorder, characterized by arrhythmogenic right ventricular cardiomyopathy, woolly hair, and palmoplantar keratoderma. Carvajal syndrome is characterized by palmoplantar keratoderma, curly hair, dilated cardiomyopathy, especially on the left ventricle side, and early morbidity. The aim of this study was to evaluate the cutaneous and cardiac findings and genotype-phenotype relationship of six patients diagnosed with Naxos/Carvajal syndrome. METHODS: A retrospective review of six cases diagnosed with Naxos/Carvajal syndrome at our institution from 2002 to 2012 was performed. Demographic data; presenting complaints; cutaneous and cardiac findings; electrocardiography, echocardiography, and genetic analysis results; and treatment data were obtained from patient files. RESULTS: The patient group was composed of 4 males and 2 females, ranging from 1.5 to 13 years, with a mean age 6.4 years. Typical cutaneous and hair findings were present in all patients. Two cases presented with ventricular tachycardia attack, and 2 cases presented with severe heart failure. Two cases had only cutaneous findings without cardiac involvement at diagnosis. An implantable cardioverter-defibrillator was implanted in one case due to ongoing recurrent ventricular tachycardia attacks despite various antiarrhythmic treatments. Three of the 6 patients died during the follow-up. CONCLUSION: For cases with woolly hair and palmoplantar keratoderma, the physician should provide a cardiac assessment, considering Naxos/Carvajal disease associated with cardiomyopathy. When an early diagnosis is made, the life expectancy may be increased by treatment of heart failure and arrhythmias; also, genetic counseling should be performed.
The twisting tale of woolly hair: a trait with many causes
AbstractWoolly hair is an uncommon condition among non-black people, which may be an isolated finding or associated with additional clinical symptoms. When woolly hair is accompanied by palmoplantar keratoderma, it may herald a deadly cardiomyopathy, and therefore this condition should alert the physician for a heart disorder. Until recently, the underlying causes for this rare phenotype were obscure, and only three genes were associated with this condition. However, in recent years, many more genes were found to underlie this disorder, uncovering new molecular pathways. Better knowledge of the different mechanisms that control the curliness of hair may offer new treatment options for this condition, and may also make it possible to affect hair texture in general.
Cell Communication & Adhesion · 2014 · 9 citations · open access
When Rare Illuminates Common: How Cardiocutaneous Syndromes Transformed Our Perspective on Arrhythmogenic Cardiomyopathy
AbstractThe classic cardiocutaneous syndromes of Naxos and Carvajal are rare. The myocardial disorder integral to their pathology - arrhythmogenic cardiomyopathy - is arguably not uncommon, with a prevalence of up to 1 in 1,000 despite almost certain under-recognition. Yet the study of cardiocutaneous syndromes has been integral to evolution of the contemporary perspective of arrhythmogenic cardiomyopathy - its clinical course, disease spectrum, genetics, and cellular and molecular mechanisms. Here we discuss how recognition of the association of hair and skin abnormalities with underlying heart disease transformed our conception of a little-understood but important cause of sudden cardiac death.
Cardiovascular Diagnosis and Therapy · 2016 · 8 citations · open access
Cardiocutaneous syndrome (Naxos disease) in a Bangladeshi boy
AbstractNaxos disease is a rare autosomal recessive form of arrhythmogenic right ventricular cardiomyopathy (ARVC) with woolly hair and palmoplantar keratoderma. The cardiomyopathy presents by adolescence with syncope, ventricular tachycardia (VT) of left bundle branch block (LBBB) morphology, and/or ventricular fibrillation. The diagnosis and management of ARVC are at present in evolution; the recently published modified Task Force Criteria for diagnosis and International Task Force consensus statement for treatment of ARVC will hopefully bring about uniformity in recognition and management of Naxos disease as well. Here, typical phenotype and diagnostic work up have been presented in a Bangladeshi boy with the Cardiocutaneous syndrome.
Russian Journal for Personalized Medicine · 2022 · 2 citations · open access
Rare form of arrhythmogenic cardiomyopathy in a 5-year-old child
AbstractArrhythmogenic cardiomyopathy is a genetically determined disease of the heart muscle, characterized by fibrofat replacement of the ventricular myocardium, which predisposes to ventricular arrhythmias and a high risk of SCD. Initially, it was believed that this disease is characterized by an exclusive or predominant lesion of the right ventricle. However, fibro-fatty replacement can also be localized in the left ventricle without involvement of the right chambers. This article presents a rare clinical case of a child with Carvajal syndrome with the classic triad of signs (left-dominant form of AСM, keratoderma, and woolly-curly hair).
International Journal of Science and Research (IJSR) · 2024 · 0 citations · open access
Generalised Woolly Hair with Hyper-Extensibility of Digits: A Rare Case Report
AbstractWoolly hair is an infrequent inborn scalp hair irregularity identified by short, firmly coiled hair that may occur in the hair covering other parts of the body as well. Various conditions have been reported to be associated with woolly hair, the most frequent associations include palmoplantar keratoderma, keratosis pilaris, ichthyosis and cardiac abnormalities. Here, we report a case wherein a 13 year old boy presents with woolly hair associated with hyper-extensibility of joints of all the digits. [51]
Disease module: DeepOracle (Open Targets). Structures: RDKit from PubChem SMILES. Literature: retrieved by DeepSearch across 234,678,978 indexed works (targeted per-candidate search), resolved on OpenAlex.
DeCure is a research and publication project, not medical advice and not a treatment. "DeCure for X" describes a research goal, not a claim that a cure exists. Backing a cure is a contribution to fund the research — it is not an investment, and confers no yield, royalty, equity or IP ownership. Papers are published open-access by the DeCure.ai DAO.
