DeCure for Wooly hair-palmoplantar keratoderma syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for wooly hair-palmoplantar keratoderma syndrome — 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 moduleWooly hair-palmoplantar keratoderma syndrome 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 wooly hair-palmoplantar keratoderma 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
KN motif and ankyrin repeat domains 2 (KANK2) — KANK2 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 unxdrag to rotate · scroll to zoom
RCSB Protein Data Bank · entry 4HBD · 1.72 Å · ligand UNKNOWN ATOM OR ION (UNX). Experimental structure, not a prediction.
What the evidence adds up to
Woolly hair-palmoplantar keratoderma syndrome is a rare condition in which woolly hair — extremely curly hair uncommon in non-black people — occurs together with palmoplantar keratoderma, a thickening of the skin on the palms and soles. The combination can herald a deadly cardiomyopathy, and clinicians are advised to investigate for heart disease when they see this phenotype. Until recently only three genes were linked to the disorder, but newer work has uncovered many more genes and the molecular pathways involved. The three major patterns of palmoplantar keratoderma are diffuse, focal and punctate, and associated systemic symptoms help characterise each type.
A 2024 case report describes a 56-year-old woman who presented with non-itchy, painful skin lesions on the palms and soles that had been present for five years, and abnormal scalp hair texture since childhood. She was treated with topical 6% salicylic acid twice daily for three months, and the thickness and size of the plaques gradually reduced. Another 2024 report describes an 11-year-old boy with early-onset palmoplantar keratoderma and woolly hair, but without the cardiomyopathy seen in Naxos or Carvajal syndrome, which are caused by mutations in desmosomal proteins. He experienced prolonged remission of his symptoms after infusion of autologous bone marrow-derived mononuclear cells.
An older study from 2009 analysed the amino acid composition of keratin from the soles of patients with hereditary palmoplantar keratoderma of the Unna Thost variety, comparing those with and without dermatophyte infection. No difference in amino acid composition was found between the groups, and no explanation emerged for why Trichophyton mentagrophytes occurred significantly more often in the soles of patients with the condition. A 1987 journal article notes a case of palmoplantar keratoderma with deafness and atopy, but provides no further detail.
What remains missing is any controlled trial of either topical salicylic acid or bone marrow cell infusion for this syndrome; the evidence is limited to single case reports. No data exist on long-term outcomes, and no genetic stratification has been used to match treatments to specific mutations. Funding for larger studies and systematic collection of cases with genotyping would be needed before any therapy could be considered established.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
British Journal of Dermatology · 1978 · 66 citations
AbstractThis study describes a family of 30 people in which 14 members have hereditary epidermolytic palmoplantar keratoderma. Four patients were treated with an oral aromatic retinoid for up to 5 months. They responded in a uniform and dramatic way: 10-14 days after the onset of therapy, the hyperkeratotic horny layer was sequestered in large sheets resulting in normal appearing skin and restoration of normal surface sensitivity. Biopsies revealed that the underlying disorder of keratinization had remained unchanged. Treatment with the retinoid had to be discontinued as the sensitivity and vulnerability restricted normal function of hands and feet. Epidermolytic hyperkeratosis (Frost & Van Scott, 1966) is a disorder of keratinization with distinctive histopathological (Ackermann, 1970; Frost & Van Scott, 1966; Lapière, 1932; Lapière, 1957) and ultrastructural (Anton-Lamprecht & Schnyder, 1974; Lapière, 1932; Lapière, 1957) characteristics which may be found in genetically transmitted diseases, certain types of naevi and hamartomas (Ackermann, 1970; Gebhart & Kidd, 1973; Plewig & Christophers, 1975; Schnyder, 1970) or, as an accidental feature, in a variety of acquired hyperkeratotic skin conditions (Ackermann, 1970; Plewig & Christophers, 1975). As a genodermatosis, epidermolytic hyperkeratosis in generalized expression presents as bullous ichthyosiform erythroderma (Frost & van Scott, 1966; Lapière, 1932; Lapière, 1957), but localized manifestations may assume the clinical appearance of hereditary linear naevus or hereditary palmoplantar keratoderma. In these localized lesions, the propensity to form bullae is minimal or absent. The epidermolytic variants of linear naevi and palmoplantar keratoderma thus do not differ appreciably from the common orthohyperkeratotic types, and the diagnosis is often made on an incidental basis. Although estimates of its incidence are a matter of speculation, epidermolytic hereditary palmoplantar keratoderma (EHPPK) appears to be exceedingly rare. Hitherto, only four affected families (Klaus, Weinstein & Frost, 1970; Voerner, 1901) and one single case (Brunsting et al., 1962) have
The twisting tale of woolly hair: a trait with many causes
AbstractWoolly hair is an uncommon condition among non-black people, which may be an isolated finding or associated with additional clinical symptoms. When woolly hair is accompanied by palmoplantar keratoderma, it may herald a deadly cardiomyopathy, and therefore this condition should alert the physician for a heart disorder. Until recently, the underlying causes for this rare phenotype were obscure, and only three genes were associated with this condition. However, in recent years, many more genes were found to underlie this disorder, uncovering new molecular pathways. Better knowledge of the different mechanisms that control the curliness of hair may offer new treatment options for this condition, and may also make it possible to affect hair texture in general.
British Journal of Dermatology · 1987 · 13 citations
Palmoplantar keratoderma, deafness and atopy
AbstractJournal Article Palmoplantar keratoderma, deafness and atopy Get access J. Verbov J. Verbov Royal Liverpool Children's Hospital, City Branch, Myrtle Street, Liverpool L7 7DG, U.K. Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 116, Issue 6, 1 June 1987, Page 881, https://doi.org/10.1111/j.1365-2133.1987.tb04914.x Published: 01 June 1987
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.
Amino Acid Analysis of the Horny Layer of the Soles of Patients with Hereditary Palmoplantar Keratoderma
AbstractThe amino acid composition of keratin from soles of patients suffering from hereditary palmoplantar keratoderma of the Unna Thost variety was investigated. Patients were divided into two groups: those without dermatophytosis and those whose hereditary palmoplantar keratoderma was complicated with a dermatophyte infection. The amino acid composition of the horny layer was compared to that of control individuals and to a previously performed analysis of mammalian hair. However, no difference was found between the groups nor was any explanation as to why Trichophyton mentagrophytes occurred significantly more often in soles of patients with hereditary palmoplantar keratoderma made apparent.
Indian Journal of Paediatric Dermatology · 2019 · 2 citations · open access
Woolly hair with palmoplantar keratoderma without cardiac abnormality: A rare case report
AbstractWoolly hair is a rare hair shaft abnormality characterized by extremely curly hair. It can occur in isolation or be associated with palmoplantar keratoderma (PPK) and cardiac defects. Here, we report a 3-year-old child with woolly hair and PPK without any cardiac manifestations. We report this case because of its rarity and to stress the importance of cardiac assessment in children with woolly hair.
International Journal of Advanced Research · 2024 · 0 citations · open access
WOOLY HAIR PALMOPLANTAR KERATODERMA : A CASE REPORT
AbstractWooly hair is a rare hair shaft abnormality characterized by extremely curly hair. It can occur in isolation or associated with palmoplantar keratoderma (PPK) and cardiac defects. We present the case of a 56-year-old female patient who initially presented with non-itchy, painful skin lesions over palms and soles since 5years and had abnormal scalp hair texture since childhood. She responded positively to treatment with topical application of 6%salicylic acid twice a day for 3 months on which the thickness and size of the plaques gradually reduced.
Journal of Medical and Oral Biosciences · 2024 · 0 citations · open access
Partial healing of congenital palmoplantar keratoderma with autologous bone marrow cells.
AbstractPalmoplantar keratoderma is a disease characterizedbyexcessive thickening of the epidermis in palms and soles.The diseasecan be hereditary or acquired at the early onset of the disease, and the involvement of many family members points to the congenital type. In addition, many congenital cases harbor additional phenotypic manifestations. Hereby, we report an 11-year-old male patient with early onset palmoplantar keratoderma associated with woolly hair. The combination of palmoplantar keratoderma and woolly hair is uncommon. It has been reported as part of the Naxos and the Carvajal syndrome, both caused by mutation in desmosomal proteins and sometimes cardiomyopathy, but not in our case.The patient experiencedprolonged remission of his symptoms with autologous bone marrow-derived mononuclear cell infusion. The current technique can be used as one treatment strategy in such cases.
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.
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