DeCure for Naegeli-Franceschetti-Jadassohn syndrome
DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for Naegeli-Franceschetti-Jadassohn 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 moduleNaegeli-Franceschetti-Jadassohn 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 naegeli-franceschetti-jadassohn 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
keratin 14 (KRT14) — KRT14 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 3TNU · 3.005 Å · ligand none (apo structure). Experimental structure, not a prediction.
What the evidence adds up to
A 2025 systematic review of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) identified 33 individuals from 6 case reports, 2 case series, 3 original articles, and 1 editorial. Key clinical features across these cases were extensive reticulate hyperpigmentation, palmoplantar keratoderma, and dental anomalies. Rare findings included cerebellar fissures and generalised osteopenia in two cases. Treatment was limited to symptomatic management with topical emollients and antioxidants. The review notes that NFJS remains a diagnostic challenge because of its rarity and overlap with other pigmentary disorders.
A 2011 linkage study of a large Swiss family originally described by Naegeli in 1927 narrowed the NFJS gene region on chromosome 17q from 27 cM to a 6 cM interval flanked by D17S933 and D17S934, with a maximum multipoint LOD score of 2.7 at marker D17S800. The critical interval spans about 5.4 Mb and contains at least 45 distinct genes. Thirteen new candidate genes plus five previously examined ones were scrutinised, and all were excluded by mutation analysis. A novel cDNA (KRT24) encoding a new keratin protein was identified but no pathogenic mutations were found in it. Linkage data from a small family with dermatopathia pigmentosa reticularis suggested that condition may map to the same region.
A 2025 case report describes a 10-year-old male child with retained teeth, bleeding gums, and hyperpigmentation that began at age 6 months on the hands and legs before spreading to the face and trunk. Cutaneous examination showed reticular pigmentation over the whole body, moderate palmoplantar thickening, absent dermatoglyphics, nail dystrophy, and malalignment of the great toe. Intraoral findings included erythematous gingiva, several carious teeth, and missing teeth. The diagnosis was made on clinical, radiographic, and histopathological grounds. The report emphasises that supportive care focused on cutaneous symptoms and dental problems is the mainstay, and that early diagnosis improves prognosis.
What is still missing is a confirmed causative gene for NFJS, any targeted or systemic treatment beyond symptomatic topical care, and prospective data on long-term outcomes. The 2025 systematic review calls for further research into pathogenesis and targeted treatments, but no such trials or funding sources are reported. Patient stratification by specific mutation is impossible until the gene is identified.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Frontiers in Medicine · 2025 · 1 citations · open access
Naegeli-Franceschetti-Jadassohn syndrome: a systematic review of case studies
AbstractIntroduction: gene. These mutations disrupt ectodermal tissue development, leading to diverse clinical manifestations involving the skin, nails, teeth, and sweat glands. Methodology: A systematic search across PubMed, Google Scholar, European PMC, and Cochrane databases was conducted up to August 2023. Only case reports, case series, and original articles reporting cases were included. Results: This review incorporated 6 case reports, 2 case series, 3 original articles, and 1 editorials, encompassing 33 individuals diagnosed with NFJS. Key clinical features included extensive reticulate hyperpigmentation, palmoplantar keratoderma, and dental anomalies. Rarely reported findings, such as cerebellar fissures and generalized osteopenia, were noted in two cases. Treatment predominantly focused on symptomatic management using topical emollients and antioxidants. Conclusion: NFJS remains a diagnostic challenge due to its rarity and overlap with other pigmentary disorders. This review consolidates current knowledge to aid clinicians in recognizing and managing NFJS. Further research is needed to clarify its pathogenesis and explore targeted treatments. Systematic review registration: https://www.crd.york.ac.uk/prospero/display_record.php?RecordID=447267, identifier CRD42023447267.
Capçalera: revista del Col·legi de Periodistes de Catalunya · 2011 · 0 citations
El periodisme d'investigació segons Vinader
AbstractNaegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis are autosomal dominant ectodermal dysplasias characterized by the absence of dermatoglyphics, reticulate hyper pigmentation of the skin, hypohidrosis, and heat intolerance. Palmoplantar keratoderma, nail dystrophy, and enamel defects are common in Naegeli-Franceschetti-Jadassohn syndrome, whereas diffuse alopecia is only seen in dermatopathia pigmentosa reticularis. We studied a large Swiss family with Naegeli-Franceschetti-Jadassohn syndrome originally described by Naegeli in 1927 and assessed linkage to chromosome 17q, which was proposed to harbor the Naegeli-Franceschetti-Jadassohn syndrome gene. Our results considerably narrow the Naegeli-Franceschetti-Jadassohn syndrome gene region from 27 cM to 6 cM flanked by D17S933 and D17S934 with a maximum multipoint LOD score of 2.7 at marker locus D17S800. In addition, we studied a small family with dermatopathia pigmentosa reticularis, and our linkage data suggest that dermatopathia pigmentosa reticularis may map to the same chromosomal region. The Naegeli-Franceschetti-Jadassohn syndrome critical interval spans approximately 5.4 Mb and contains a minimum of 45 distinct genes. We scrutinized 13 new prime candidates in addition to five genes previously examined, established the genomic organization of 10 of these genes, and excluded all of them by mutation analysis. Moreover, we identified a cDNA (KRT24) encoding a new keratin protein that bears high similarity to the type I keratins and displays a unique expression profile. No pathogenic mutations were identified in this novel gene either, however. In summary, our results substantially refine the Naegeli-Franceschetti-Jadassohn syndrome region and will aid in identifying a gene that is critical for ontogenesis of multiple ectodermal tissues.
International Journal of Clinical Pediatric Dentistry · 2025 · 0 citations · open access
Naegeli–Franceschetti–Jadassohn Syndrome: A Case Report
AbstractAim: A case of Naegeli-Franceschetti-Jadassohn syndrome (NFJS) and its multidisciplinary team approach for diagnosis and management are reported. Background: ) gene mutations that cause this autosomal dominant condition result in abnormal keratinocyte activity. A variety of cutaneous symptoms are its defining characteristics. Clinically, NFJS manifests as palmoplantar keratoderma, hypo- and hyperpigmented macules, lack of dermatoglyphics, and lack of sweating. Patients may have many oral problems in addition to dermatological symptoms. Case description: A 10-year-old male child reported with retained teeth and bleeding gums. Inquiries about the hyperpigmentation of the facial skin revealed a history of onset of pigmentation at the age of 6 months, which was initially noticed on the hands and legs, and later extended to the face and trunk region. Cutaneous examination showed reticular cutaneous pigmentation all over the body, moderate thickening of the palms and soles, absence of dermatoglyphics, nail dystrophy, and malalignment of the great toe. Intraoral examination showed erythematous gingiva, several carious teeth, and missing teeth. Conclusion: Based on clinical features, radiographic features, and histopathological report, the case was diagnosed as NFJS. Clinical significance: A multidisciplinary approach is crucial for NFJS syndrome in order to provide an accurate diagnosis and all-encompassing patient care that enhances quality of life. Supportive care is the main focus, with an emphasis on treating the cutaneous symptoms and related dental problems. A better prognosis depends on early diagnosis. How to cite this article: . Naegeli-Franceschetti-Jadassohn Syndrome: A Case Report. Int J Clin Pediatr Dent 2025;18(4):461-465.
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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