DeCure for Erythrokeratodermia variabilis et progressiva 4
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for erythrokeratodermia variabilis et progressiva 4 — 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 moduleErythrokeratodermia variabilis et progressiva 4 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 erythrokeratodermia variabilis et progressiva 4 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.
What the evidence adds up to
Erythrokeratodermia variabilis et progressiva 4 is a rare genodermatosis. Two case reports from 2013 describe patients with erythematous and hyperkeratotic lesions histopathologically diagnosed with erythrokeratodermia variabilis. A 2025 review states the disorder is predominantly linked to pathogenic variants in GJB3 and GJB4, which encode connexin proteins essential for intercellular communication. The same review notes that emerging treatment strategies, including targeted therapies and advances in genetic counselling, are discussed, but provides no concrete efficacy data, response rates, or survival figures.
A 2025 case report of progressive symmetrical erythrokeratoderma, described as the rarer type of erythrokeratoderma and considered part of the same entity as erythrokeratodermia variabilis et progressiva, reports treatment with isotretinoin and oral vitamin A capsules during the isotretinoin “drug holiday” period. No outcomes, response rates, or sample sizes are given for this treatment. No other drugs are mentioned in any of the abstracts.
No controlled trials, no randomised comparisons, and no quantitative measures of benefit or harm are reported. The molecular understanding of connexin mutations is described, but no targeted therapy has been tested in a clinical setting for this specific condition. What is missing is any clinical trial with defined endpoints, patient stratification by genotype, and funding to move from case reports and reviews to systematic investigation.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Indian Dermatology Online Journal · 2013 · 12 citations · open access
Erythrokeratodermia variabilis: Two case reports
AbstractErythrokeratodermia variabilis (EKV) is a rare heterogeneous skin disorder. The classical EKV first described by Mendes da Costa is characterized by two types of skin lesions: (1) figurate hyperkeratotic plaques, and (2) transient erythematous areas. Herein, we report two patients presenting with erythematous and hyperkeratotic lesions that were histopathologically diagnosed with EKV.
AbstractProgressive symmetrical erythrokeratoderma (PSEK) is the rarer type of erythrokeratoderma and is inherited as an autosomal dominant condition. The other more common form is erythrokeratoderma variabilis (EKV). Although these conditions vary clinically, their similarity in histopathology and likelihood of similar genetic origins have made the conditions be considered one entity called EKV et progressiva. We report a case of PSEK treated with isotretinoin and oral vitamin A capsules in the isotretinoin “drug holiday” period.
International Journal of Research in Medical Sciences · 2025 · 0 citations · open access
Erythrokeratodermia variabilis et progressiva: clinical features, molecular insights, and therapeutic perspectives
AbstractErythrokeratodermia variabilis et progressiva (EKVP) is a rare genodermatosis characterized by transient, erythematous patches and persistent hyperkeratotic plaques with a highly variable clinical presentation. As a disorder predominantly linked to pathogenic variants in GJB3 and GJB4, encoding connexin proteins essential for intercellular communication, EKVP highlights the critical role of gap junction integrity in epidermal homeostasis. This article aims to provide a comprehensive overview of EKVP, focusing on its clinical manifestations, pathophysiological mechanisms, and the role of molecular diagnostics in confirming the diagnosis. Additionally, emerging treatment strategies, including targeted therapies and advances in genetic counseling, are discussed. Enhanced understanding of EKVP’s molecular underpinnings has paved the way for innovative therapeutic approaches, offering new hope for affected individuals.
Aktuelle Dermatologie · 2008 · 0 citations · open access
Eine seltene Genodermatose: Erythrokeratodermia variabilis et figurata Mendes da Costa
AbstractDie Erythrokeratodermia variabilis et figurata Mendes da Costa gehört zu der Gruppe der Genodermatosen. Diese beginnt meist in frühester Kindheit und ist von stationären Hyperkeratosen und wandernden Erythemen gekennzeichnet. 50 % der Patienten weisen auch palmoplantare Hyperkeratosen auf. Der Gendefekt liegt auf dem Chromosom 1p34 - 35.1. Die Therapie erfolgt mit keratolytischen und pflegenden Lokaltherapien, bei schwereren Verlaufsformen systemisch mit Acitretin.
INTERNATIONAL JOURNAL OF SCIENTIFIC RESEARCH · 2019 · 0 citations · open access
A SPORADIC CASE OF ERYTHROKERATODERMIA VARIABILIS IN AN ADULT
AbstractErythrokeratoderma are diverse group of genodermatosis affecting keratinization under which, Erythrokeratodermia Variabilis ( EKV) was first described in 1925 by Mendes da Costa. Our patient is a 48 year old male presenting clinically with EKV Mendes Da Costa, hyperkeratotic subtype with the histopathology supportive of the diagnosis. We are reporting for its rarity and due to its late onset in our patient and also for the sporadic nature of this particular case of EKV.
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.
