DeCure for Trichoepithelioma, multiple familial, 1
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for trichoepithelioma, multiple familial, 1 — 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 moduleTrichoepithelioma, multiple familial, 1 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 trichoepithelioma, multiple familial, 1 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
CYLD lysine 63 deubiquitinase (CYLD) — CYLD 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 apo structuredrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 2VHF · 2.8 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
Multiple familial trichoepithelioma is a rare autosomal dominant disorder in which multiple trichoepitheliomas, benign tumours of follicular origin, appear as small skin-coloured papules predominantly on the face. A 2000 review notes that the cause may be a defective tumour suppressor gene, and studies have mapped a gene to the 9p21 locus. However, there is a parallel or possibly identical syndrome of multiple trichoepitheliomas and cylindromas; within a given family some members may have cylindromas while others have trichoepitheliomas or both. Preliminary evidence suggests a different gene may be responsible, and it is possible that more than two independent genes are involved, with some cases due to impairment of the gene for cylindromatosis.
A 2015 case report describes a patient who developed a malignant neoplasm in a setting of multiple trichoepithelioma, but states that malignant transformation is very rare. The report does not give a sample size or survival data. A 2004 report describes three members of one family diagnosed simultaneously; only one was treated, with medium depth chemical peeling, and that treatment produced only a partial response. No other treatments are reported in these abstracts.
No controlled trials, no survival statistics, and no response rates are available for any drug or intervention in multiple familial trichoepithelioma. The literature consists entirely of case reports and reviews. What is missing is any prospective trial, any standardised outcome measure, any funding for a treatment study, and any patient stratification by genetic subtype.
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 Journal of Dermatology · 2000 · 11 citations
Trichoepithelioma Papulosum Multiplex
AbstractTrichoepithelioma papulosum multiplex is an uncommon autosomal dominant disorder in which multiple trichoepitheliomas are seen. Its cause may be a defective tumor suppressor gene. Studies have mapped this gene to the 9p21 locus. However, there is a parallel or identical syndrome of multiple trichoepitheliomas and cylindromas. Within a given family, some members may have cyclindromas whereas others may have trichoepitheliomas or a combination of both. Although preliminary evidence suggests a different gene is responsible, it is possible that TPM may be caused by more than two independent genes, with some cases of TPM due to impairment of the gene for cylindromatosis. This entity, as well as other disorders with multiple appendageal tumors, may require clarification and distinction from TPM.
Indian Journal of Dermatology · 2015 · 8 citations · open access
Multiple Familial Trichoepithelioma with an Adjacent Basal Cell Carcinoma, Transformation or Collision – A Case Report and Review of Literature
AbstractTrichoepithelioma is a benign tumor of follicular origin that presents as small, skin-colored papules predominantly on the face. When more than one family member is affected, the disease is known as multiple familial trichoepithelioma (MFT). It is a rare autosomal dominant skin disease. Malignant transformation is very rare. We describe here a case that developed malignant neoplasm in a setting of multiple trichoepithelioma.
Multiple familial trichoepithelioma: a rare cutaneous tumour.
AbstractMultiple familial trichoepithelioma (MFT) is a rare autosomal dominant skin disease that present as many small tumours predominantly on the face. We report a case of multiple familial trichoepithelioma occurring in three members of a family. They were diagnosed simultaneously. Only one was treated with medium depth chemical peeling with partial response.
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.
