DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Beare-Stevenson cutis gyrata syndrome — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleBeare-Stevenson cutis gyrata syndrome maps to a 2-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 beare-stevenson cutis gyrata syndrome 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
fibroblast growth factor receptor 2 (FGFR2) — FGFR2 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 acpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 6V6Q · 2.46 Å · ligand PHOSPHOMETHYLPHOSPHONIC ACID ADENYLATE ESTER (ACP). Experimental structure, not a prediction.
What the evidence adds up to
Beare-Stevenson cutis gyrata syndrome is a rare genetic disorder confirmed by mutation analysis of the fibroblast growth factor receptor 2 gene. One case report describes a patient who at birth had ocular proptosis, a red nevus with skin tags on the forehead, and an umbilical stump, and later developed craniosynostosis, craniofacial dysmorphism, and hydrocephalus. DNA analysis showed she was heterozygous for a missense mutation in exon 10 of FGFR2, resulting in a Tyr375Cys amino acid substitution. This was the fourth case confirmed by FGFR mutation analysis. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. No drug therapy was reported.
The broader category of cutis verticis gyrata includes primary forms without known associated disorders, as well as secondary forms linked to conditions such as autosomal dominant insulin resistance syndrome, Darier disease, and the CVG-Intellectual Disability syndrome. In primary CVG, a 1984 case was treated with a scalp reduction procedure. A 2000 case associated CVG with autosomal dominant insulin resistance syndrome, characterised by obesity, mild mental retardation, delayed puberty, acanthosis nigricans, and hyperinsulinaemia. A 2018 case described CVG and leonine face in a patient with Darier disease. Two reviews of CVG-ID syndrome (2016 and 2023) note that scalp folds are typically absent at birth and first noticed after puberty; the syndrome was historically identified in up to 11.4% of subjects in psychiatric institutions, but is now considered under-recognised. Both reviews used magnetic resonance imaging as a diagnostic approach.
No abstract reports any drug treatment for Beare-Stevenson cutis gyrata syndrome or any form of cutis verticis gyrata. The only interventions described are surgical: scalp reduction, forehead and facial advancement, and ventriculoperitoneal shunting for hydrocephalus. What is missing is any clinical trial, any pharmacological strategy, any molecular target beyond the FGFR2 mutation itself, and any patient stratification beyond the genetic diagnosis. There is no evidence of drug repurposing or preclinical drug testing for this condition.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Archives of Dermatology · 1984 · 67 citations
Essential Primary Cutis Verticis Gyrata
AbstractA case of cutis verticis gyrata (CVG) occurred in a patient with no known associated disorders. Under the present classification system, patients with primary CVG are all grouped together. We propose subclassifying patients with primary CVG into two groups: those with associated neurologic and ophthalmologic diseases and those without. Our patient was treated with a scalp reduction procedure.
Clinical and Experimental Dermatology · 2000 · 26 citations
Cutis verticis gyrata of the scalp in a patient with autosomal dominant insulin resistance syndrome
AbstractCutis verticis gyrata (CVG) is a rare disorder; it is characterized by thickening of the scalp which becomes raised to form ridges and furrows resembling the cerebral gyri. We report a case of CVG associated with the autosomal dominant insulin resistance syndrome. This syndrome is characterized by obesity, mild mental retardation, delayed puberty, acanthosis nigricans and hyperinsulinaemia. The association of CVG and autosomal dominant insulin resistance has not been previously described.
A Case of Beare-Stevenson Cutis gyrata Syndrome Confirmed by Mutation Analysis of the Fibroblast Growth Factor Receptor 2 Gene
AbstractThis paper reports a case of Beare-Stevenson cutis gyrata syndrome confirmed by DNA analysis of the patient's fibroblast growth factor receptor (FGFR) genes. At birth, the patient had ocular proptosis, a red nevus with skin tags on her forehead and an umbilical stump. She developed craniosynostosis, craniofacial dysmorphism and hydrocephalus. Her treatment included forehead and facial advancement and a ventriculoperitoneal shunt. Analysis of the FGFR genes revealed that she was heterozygous for a missense mutation in exon 10 for the FGFR2 protein, resulting in an amino acid substitution of cysteine for tyrosine at residue 375 (Tyr375Cys). This is the fourth case of Beare-Stevenson cutis gyrata syndrome confirmed by mutation analysis of the FGFR genes.
Journal of Pakistan Association of Dermatologists · 2018 · 2 citations · open access
Cutis verticis gyrata and leonine face in a patient with Darier disease: A case report and review of the literature
AbstractCutis verticis gyrata is classified into primary and secondary types. It can be seen in association with chronic inflammatory dermatologic diseases, tumors, and chromosomal and inherited disorders. Here, we describe a patient of Darier’s disease presenting with cutis verticis gyrata involving scalp expanding to his forehead leading to leonine face.
Scholars Journal of Medical Case Reports · 2023 · 1 citations · open access
A Case Report of a Cutis Verticis Gyrata-Intellectual Disability
AbstractCutis Verticis Gyrata-Intellectual Disability (CVG-ID) syndrome is a rare neurocutaneous syndrome characterized by intellectual disability and scalp folds, furrows that are typically absent at birth and are first noticed after puberty. First reported in 1893, the syndrome was mainly identified in subjects living in psychiatric institutions. Most patients were reported in the literature during the first half of the 20th century. CVG-ID is now a less reported and possibly under-recognized syndrome. Here, we report a patient with CVG-ID that was diagnosed using the novel approach of magnetic resonance imaging.
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.
