DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for aplasia cutis congenita — screening already-approved drugs against its 4-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleAplasia cutis congenita maps to a 4-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 aplasia cutis congenita 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
ubiquitin like modifier activating enzyme 2 (UBA2) — UBA2 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 atpdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 9QN5 · 1.97 Å · ligand ADENOSINE-5'-TRIPHOSPHATE (ATP). Experimental structure, not a prediction.
What the evidence adds up to
Aplasia cutis congenita is a rare congenital disorder in which localised or widespread areas of skin are absent at birth, most often on the scalp but potentially affecting any part of the body. Management depends on the size, depth, location, and which underlying structures are at risk. Small lesions with intact underlying structures, and lesions on the extremities, are treated conservatively with dressings and ointments, followed by delayed scar excision. One case report describes a newborn with unilateral absence of skin on the extensor surface of the right lower leg, classified as type VII aplasia cutis congenita, who was treated with wet dressings and prophylactic topical antibiotics; after two years the ulcer was nearly healed with only minimal scar formation. Dermoscopy has been reported as an easy, fast, and useful diagnostic method in a 45-day-old girl.
Larger lesions or those exposing vital structures require early surgical intervention. Exposed vital structures and bony ridges can initially be protected with conservative measures, followed by delayed definitive repair using scalp flaps, split- or full-thickness skin grafts, cultured epithelial autografts, delayed split rib cranioplasty, tissue expansion, or composite cranioplasty. Two case reports of scalp aplasia cutis congenita with associated bony defects highlight the dangers of delayed coverage of exposed dura: one case was complicated by repeated local and systemic sepsis, the other by repeated life-threatening haemorrhage. The authors of those reports argue that early definitive coverage with full thickness skin flaps avoids the risk of haemorrhage and, if the recipient bed is clean, should lessen the incidence of complicating sepsis.
The evidence base consists entirely of case reports and a single review article. No controlled trials, no randomised comparisons of conservative versus surgical management, and no prospective studies with predefined endpoints exist. The review itself notes that controversy persists regarding nonsurgical versus surgical intervention. What is missing is any systematic effort to stratify patients by defect size, depth, or associated malformations in a prospective registry or trial, and the funding to conduct such work. Without that, decisions remain based on anecdote and individual clinician judgement.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Journal of Craniofacial Surgery · 2010 · 73 citations
Aplasia Cutis Congenita
AbstractBACKGROUND: Aplasia cutis congenita (ACC) is a rare congenital disorder characterized by absence of skin and adjacent tissue that usually affects the scalp, but any part of the body may be affected. Although ACC is more often superficial and small, it can be large and involve the underlying structures such as skull and dura, thus increasing the risk of hemorrhage, infection, and mortality. Controversy exists regarding nonsurgical versus surgical intervention for this condition. This study reviews indications and modalities for treatment of this rare congenital anomaly. RESULTS: Management of this anomaly depends on size, location, and structures at risk. Small lesions with intact underlying structures and lesions affecting extremities are treated in a conservative fashion with dressings and ointments followed by delayed scar excision. Aplasia cutis congenita scar excision often requires complex tissue rearrangement, tissue expansion, or skin grafting. Larger ACC lesions or lesions with exposure of vital structures require early surgical intervention. Initially, exposed vital structures and bony ridges can be protected using conservative measures. Delayed definitive repair can then be performed using scalp flaps, split- and full-thickness skin grafts, cultured epithelial autografts, delayed split rib cranioplasty, tissue expansion, and composite cranioplasty. CONCLUSIONS: Aplasia cutis congenita should be individually evaluated based on size, depth, location, and tissues involved. Using conservative and surgical modalities, one can achieve complete closure of the defect, thus avoiding risks of infection, hemorrhage, and further trauma.
Aplasia cutis congenita of the Scalp: Issues in Its Management
AbstractTwo cases of aplasia cutis congenita with associated bony defects are presented to highlight the dangers of delayed coverage of exposed dura. Management of one case was complicated by repeated local and systemic sepsis and the other by repeated, life-threatening hemorrhage. Early, definitive coverage of these defects using full thickness skin flaps avoids the risks of hemorrhage and should, if the recipient bed is clean, lessen the incidence of complicating sepsis.
Annals of Dermatology · 2008 · 7 citations · open access
A Case of Aplasia Cutis Congenita, Type VII
AbstractAplasia cutis congenita (ACC) is a rare congenital defect in which localized or widespread areas of the skin are absent at birth. In the majority of cases, it is limited to the scalp especially on the vertex although other areas of the body may also be involved. Other congenital malformations can be associated with ACC. We present herein the case of a new born male with unilateral absence of skin on the extensor surface of the right lower leg. There was no associated malformation or skin disease such as blistering or nail abnormailty. According to the classification outlined by Frieden, the condition was diagnosed as type VII aplasia cutis congenita. The treatment of this large ulcer was conservative, wet dressing and prophylactic topical antibiotics. On follow up after 2 years showed that the patient was nearly cured of the ulcer and had only minimal scar formation.
International Journal of Trichology · 2016 · 6 citations
Aplasia cutis congenita: Trichoscopy findings
AbstractAplasia cutis congenita (ACC) is a rare disorder characterized by localized absence of skin that most commonly affects the scalp. We present a case of ACC in a 45-day-old girl and the dermoscopic findings. Dermoscopy has shown to be an easy, fast and useful method for the diagnosis of this condition.
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.
