Rare & Orphan Lab · DeCure for X

DeCure for Punctate palmoplantar keratoderma type 2

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for punctate palmoplantar keratoderma type 2 — 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 module1 genesLead labRare & Orphan
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Rare & OrphanDOID:0080213$DeCureRare

The disease map

Disease modulePunctate palmoplantar keratoderma type 2 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 punctate palmoplantar keratoderma type 2 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

BRCA1 DNA repair associated (BRCA1)BRCA1 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 8RS8 · 1.31 Å · ligand none (apo structure). Experimental structure, not a prediction.

What the evidence adds up to

Punctate palmoplantar keratoderma type 2 is not separately defined in the available abstracts. The abstracts describe punctate palmoplantar keratoderma as a rare genetic disorder with autosomal dominant inheritance, characterised by punctate keratotic papules on the palms and soles. One 2025 case report specifies that type 1 (PPKP1) is caused by mutations in the AAGAB gene, but no abstract distinguishes type 2 or provides its genetic basis. A 2009 report describes a 20-year-old woman with punctate palmoplantar keratodermia who also had truncal lesions, which the authors state had not been previously reported in the disseminate form of the condition. The histologic features from trunk, hands, and feet were similar.

The abstracts offer no quantitative data on survival, response rates, or sample sizes for any treatment. Treatment options mentioned in the 2025 case report include surgical excision of hyperkeratotic papules, low-dose oral retinoids, and topical urea and salicylic acid, but no outcomes or efficacy data are given. The 2013 and 2019 reviews note that palmoplantar keratodermas show wide genetic and phenotypic heterogeneity, and that accurate diagnosis often requires molecular studies due to clinical overlap. The 2019 review states that molecular studies are imperative for accurate classification but are high cost.

What is missing for punctate palmoplantar keratoderma type 2 specifically is any molecular characterisation, any clinical trial data, and any evidence linking a drug to disease modification. The abstracts do not report a single patient with type 2, nor any stratified analysis by genotype. Without funding for genetic studies and controlled treatment trials, the condition remains defined only by clinical pattern recognition, and no drug can be recommended from this evidence.

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 · 2019 · 42 citations · open access

Hereditary palmoplantar keratoderma: A practical approach to the diagnosis

Abstractor as a feature of several dermatological or systemic diseases. There is a wide genetic and phenotypic heterogeneity in hereditary PPK, due to which reaching an accurate diagnosis only on the basis of clinical features may be sometimes challenging for the clinicians in the absence of molecular studies. Nevertheless, recognizing the clinical patterns of keratoderma, extent of involvement, degree of mutilation, and associated appendageal and systemic involvement may help in delineating different forms. Molecular studies, despite high cost, are imperative for accurate classification, recognizing clinical patterns in resource poor settings is important for appropriate diagnosis, genetic counseling, and management. This review intends to develop a practical approach for clinical diagnosis of different types of hereditary PPK with reasonable accuracy.

https://doi.org/10.4103/idoj.idoj_367_18
Dermatologica · 2009 · 5 citations

Disseminate Palmoplantar Keratodermia with Truncal Lesions

AbstractA 20-year-old woman with clinical features of punctate palmoplantar keratodermia is presented. Specimens from the trunk, hands and feet showed similar histologic features. The nosology of disseminate palmoplantar keratodermia is discussed and its features delineated as an extension of punctate palmoplantar keratodermia. To our knowledge, truncal lesions have not been previously reported in disseminate palmoplantar keratodermia.

https://doi.org/10.1159/000249728
Our Dermatology Online · 2013 · 4 citations · open access

Eponyms in the dermatology literature linked to Palmo-Plantar Keratoderma

AbstractPalmoplantar keratodermas (PPKs) represent a diverse group of hereditary and acquired disorders characterized by hyperkeratosis of the skin on the palms and soles The three major patterns of involvement are diffuse, focal and punctate. There are clinical distinguishing features for each disease in this group, for example, transmigration to areas beyond the palmoplantar skin. Also the extent of associated systemic symptoms if present help in characterization of each type.

https://doi.org/10.7241/ourd.20134.145
Journal of Dermatology Research · 2025 · 0 citations · open access

Punctate Palmoplantar Keratoderma: Case Report

AbstractPunctate Palmoplantar Keratoderma Type 1 (PPKP1) is a rare genetic disorder characterized by autosomal dominant inheritance, manifesting as punctate keratotic papules on the skin of the palms and soles. This report discusses a new case of this condition to underscore the rarity of this dermatosis. Recent research has identified mutations in the AAGAB gene as the cause of PPKP1, explaining its familial patterns. Treatment typically includes surgical excision of hyperkeratotic papules, supplemented by low-dose oral retinoids and topical applications of urea and salicylic acid to reduce symptom recurrence.

https://doi.org/10.46889/jdr.2025.6211
Russian Journal of Clinical Dermatology and Venereology · 2023 · 0 citations

Punctate palmoplantar keratoderma, porokeratotic type

AbstractPalmoplantar keratoderma is a group of diseases manifested by the thickening of the skin of the palms and soles. A group of punctate keratoderma is distinguished, in which separate small lesions are distributed over the palmoplantar surface. The most common is punctate keratoderma type I Buschke—Fischer—Brauer with identified gene mutations associated with the disease. Types II and III of punctate keratoderma are rare, with a not yet identified genetic substrate. All three types have distinct clinical features, but the final diagnosis can be made only based on a morphological study. We describe a patient who has suffered from punctate palmoplantar keratoderma since age 15 but was diagnosed with verruca vulgaris by a dermatologist. The onset of lesions in adolescence, and their active progression, despite antiviral and destructive therapy, made it possible to assume the diagnosis of punctate palmoplantar keratoderma. A dermatoscopic study helped in differential diagnosis: the absence of red dots and globules in the center of the foci excluded the diagnosis of palmoplantar warts. Rounded yellow foci with a peeling rim along the periphery were observed during dermatoscopy. The final diagnosis of type II (porokeratotic) palmoplantar keratoderma was made after the histological examination showed epidermal hyperkeratosis with column-like areas of parakeratosis and focal thinning of the granular layer.

https://doi.org/10.17116/klinderma202322041441

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.