DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for wrinkly skin syndrome — 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 moduleWrinkly skin syndrome 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 wrinkly skin 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.
What the evidence adds up to
Wrinkly skin syndrome is an autosomal recessive disorder characterised by wrinkling of the skin on the dorsum of the hands and feet, decreased elastic recoil, increased palmar and plantar creases, musculoskeletal abnormalities, microcephaly, and mental retardation. A 1987 case report confirmed the presence of mental retardation and microcephaly as component manifestations and added an atrial septal aneurysm as a connective tissue abnormality. A 1990 report described a 2.5-year-old boy of Jewish Moroccan origin with wrinkled skin on the hands and feet, poor skin elasticity, syndactyly, mild kyphosis, and poor muscle tone. No drug treatments for the syndrome itself appear in the literature.
The remaining abstracts concern cosmetic wrinkle treatments in the general population, not wrinkly skin syndrome. A 2007 study of the Polaris WR device (combined laser and radiofrequency) in 15 patients found that 58% were improved at 3 months by physician assessment, 42% at 6 months; 75% of patients felt they looked better at 3 months, 67% at 6 months; VISIA analysis showed 67% had fewer or shallower wrinkles at 3 months, with an average improvement of 30%. Two patients sustained superficial second-degree burns. A 2025 randomised split-face trial of letibotulinum toxin A in 20 participants with forehead wrinkles found diffusion patterns and wrinkle reduction comparable to prabotulinum and onabotulinum toxin A, with no statistically significant differences. A 1995 study of microsurgical excision of linear facial wrinkles in 61 patients reported effective and long-lasting wrinkle reduction, with occasional minor hypopigmentation or scarring.
No abstract describes any drug tested in patients with wrinkly skin syndrome. The 2014 and 2021 papers discuss desmosomal proteins and TWIST2 target genes in related skin disorders (AEC syndrome and Setleis syndrome), not wrinkly skin syndrome, and offer no treatment data. What is missing is any clinical trial of a drug for wrinkly skin syndrome, any patient stratification by genotype, and any funding directed toward therapeutic development for this specific 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.
American Journal of Medical Genetics · 1987 · 19 citations
Wrinkly skin syndrome: Phenotype and additional manifestations
AbstractThe wrinkly skin syndrome is an autosomal recessive disorder characterized by wrinkling of the skin of the dorsum of the hands and feet, decreased elastic recoil of the skin, an increased number of palmar and plantar creases, multiple musculoskeletal abnormalities, microcephaly, and mental retardation. Our patient is characteristic of the syndrome as previously described, and confirms the presence of mental retardation and microcephaly as component manifestations, with the additional findings of connective tissue abnormalities evidenced by an atrial septal aneurysm.
The wrinkly skin syndrome: a report of a case and review of the literature
AbstractA 2 1/2-year-old boy born of Jewish Moroccan parents is reported with physical findings of wrinkled skin on the dorsum of the hands and feet, with poor skin elasticity, syndactyly, mild kyphosis and poor muscle tone, the diagnosis being the wrinkly skin syndrome. All reported cases of this heritable disorder of connective tissue are reviewed and discussed in terms of genetics, ethnic clustering and differential diagnosis.
Analysis of histologic and clinical changes associated with Polaris WR treatment of facial wrinkles
AbstractBACKGROUND: The Polaris WR is a device that combines laser energy with radiofrequency (RF) treatment to provide more focused RF energy on the skin to reduce wrinkles and/or tighten skin. Clinical results have varied from highly visible to no obvious reduction in wrinkles. OBJECTIVE: This prospective study investigated whether there was any corollary between clinical results, standardized VISIA (Canfield Imaging Systems, Fairfield, NJ) and digital photographs, and skin biopsy analysis after the treatment of facial wrinkles with the Polaris WR device. METHODS: Fifteen patients received four full-face treatments. Biopsy of the treated skin was performed before and 1 and 3 months after their last treatment. A VISIA computer analysis of facial wrinkle density and depth was performed before any treatment and then 3 months after the last treatment. Digital photographs were reviewed by four surgeons to evaluate wrinkle reduction at 3 and 6 months after the four treatments. RESULTS: Physicians' ratings of these digital images revealed that 58% of the patients were improved at 3 months after treatment, and 42% were still improved at 6 months. The patient questionnaire responses revealed that 75% of patients felt that they looked better at 3 months, and 67% felt that they remained improved 6 months after their last treatment. VISIA photographic analysis demonstrated that 67% of the patients had fewer and/or shallower wrinkles at their 3-month visit. The average degree of improvement with VISIA analysis was 30%. Biopsy specimens in the group of patients that were defined as improved by VISIA assessment showed a greater dermal thickness and interfibrillar spacing P < .024). Two patients received superficial second-degree burns that did not require corrective treatment. CONCLUSIONS: Improvement in skin wrinkling after Polaris WR therapy was confirmed in patients at 3 months after treatment by physician assessment, VISIA analysis, and patient assessment, with a lower rate of improvement at 6 months after treatment. VISIA analysis tended to confirm patient assessments. Physician assessments of improvement tended to be lower.
Cell Communication & Adhesion · 2014 · 8 citations · open access
Integrating Animal Models and In Vitro Tissue Models to Elucidate the Role of Desmosomal Proteins in Diseases
AbstractDesmosomes are intercellular junctions that provide tissues with structural stability. These junctions might also act as signaling centers that transmit environmental clues to the cell, thereby affecting cell differentiation, migration, and proliferation. The importance of desmosomes is underscored by devastating skin and heart diseases caused by mutations in desmosomal genes. Recent observations suggest that abnormal desmosomal protein expression might indirectly contribute to skin disorders previously not linked to these proteins. For example, it has been postulated that reduced desmosomal protein expression occurs in patients affected by Ankyloblepharon-ectodermal defects-cleft lip/palate syndrome (AEC), a skin fragility disorder caused by mutations in the transcription factor TP63. Currently, it is not clear how these changes in desmosomal gene expression contribute to AEC. We will discuss new approaches that combine in vitro and in vivo models to elucidate the role of desmosomal gene deregulation in human skin diseases such as AEC.
International Journal of Environmental Research and Public Health · 2021 · 5 citations · open access
Expression Profiling Identifies TWIST2 Target Genes in Setleis Syndrome Patient Fibroblast and Lymphoblast Cells
AbstractBackground: Setleis syndrome (SS) is a focal facial dermal dysplasia presenting with bilateral temporal skin lesions, eyelash abnormalities and absent meibomian glands. SS is a rare autosomal recessive disorder caused by mutations in the TWIST2 gene, which codes for a transcription factor of the bHLH family known to be involved in skin and facial development. Methods: We obtained gene expression profiles by microarray analyses from control and SS patient primary skin fibroblast and lymphoblastoid cell lines. Results: Out of 983 differentially regulated genes in fibroblasts (fold change ≥ 2.0), 479 were down-regulated and 509 were up-regulated, while in lymphoblasts, 1248 genes were down-regulated and 73 up-regulated. RT-PCR reactions confirmed altered expression of selected genes. Conclusions: TWIST2 is described as a repressor, but expression profiling suggests an important role in gene activation as well, as evidenced by the number of genes that are down-regulated, with a much higher proportion of down-regulated genes found in lymphoblastoid cells from an SS patient. As expected, both types of cell types showed dysregulation of cytokine genes. These results identify potential TWIST2 target genes in two important cell types relevant to rare disorders caused by mutations in this bHLH gene.
Journal of Dermatological Treatment · 2025 · 2 citations · open access
Diffusion characteristics and efficacy of letibotulinum toxin a in forehead wrinkle treatment
AbstractBACKGROUND: Facial wrinkles, caused by aging and repetitive muscle contractions, are commonly treated with botulinum neurotoxin type A (BoNT-A). However, excessive toxin diffusion can cause side-effects like muscle weakness. OBJECTIVES: This study aimed to compare the diffusion, efficacy, and safety of letibotulinum toxin A with two other BoNT-A products for treating forehead wrinkles. METHODS: In a double-blind, randomized, split-face controlled trial, 20 participants with moderate-to-severe horizontal forehead wrinkles received letibotulinum toxin A on one side and prabotulinum or onabotulinum toxin A on the other. The primary outcome was diffusion profile assessed via anhidrosis area (iodine-starch test at 2 weeks); secondary outcomes included wrinkle reduction, assessed by photographic analysis, and safety. RESULTS: Results show that letibotulinum toxin A exhibited diffusion patterns and wrinkle-reduction efficacy comparable to the control products. No statistically significant differences were observed be-tween the groups for the primary or secondary outcomes. CONCLUSION: Letibotulinum toxin A is a safe, effective alternative for wrinkle treatment, potentially minimizing excessive diffusion risks and related side effects, making it a valuable addition to available treatment options.
Follow-Up Study of Microsurgical Treatment of Linear Facial Wrinkles
AbstractBACKGROUND: A new microsurgical technique for the removal of facial wrinkles, first reported in this journal, has been further researched. METHODS: The technique consists of two steps, both performed under a microscope: 1) microsurgical peeling of tissue surrounding a linear wrinkle, and 2) direct excision and closure of the wrinkle. RESULTS: Wrinkles were effectively diminished in 61 patients and the results, despite occasional occurrence of minor hypopigmentation and/or scarring, were satisfactory and long-lasting.
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.
