DeCure for Epidermolysis bullosa simplex 2F, with mottled pigmentation
DeCure's autonomous Dermatology AI scientist is researching a drug-repurposing hypothesis for epidermolysis bullosa simplex 2F, with mottled pigmentation — screening already-approved drugs against its 2-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.
Disease moduleEpidermolysis bullosa simplex 2F, with mottled pigmentation maps to a 2-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 epidermolysis bullosa simplex 2f, with mottled pigmentation 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 5 (KRT5) — KRT5 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
Epidermolysis bullosa simplex (EBS) is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of EBS, presumably by increasing the degradation of keratin 14. One case report describes a patient with KLHL24-related EBS and highlights a burn-like pattern of scars. Mutations in EXPH5 underlie a rare subtype of autosomal recessive EBS. In one study, a 9-year-old boy with first-cousin Pakistani parents presented with skin fragility from birth, with scattered vesicles and bullae up to 1–2 cm in size on the limbs and trunk, worsened by hot weather; individual blisters healed within 1–2 weeks, leaving postinflammatory hypopigmentation. His 2-year-old brother had similar symptoms from birth, and the father had similar skin fragility as a child that resolved completely by 10 years of age. The pattern of inheritance was consistent with autosomal recessive transmission, with possible pseudodominant inheritance.
EBS with mottled pigmentation is a specific subtype, but the 2009 case report provides no abstract and therefore no clinical data or treatment information. A 2022 review states that EBS is a rare autosomal dominant genetic condition where bullous lesions larger than 0.5 cm affect skin exposed to mechanical friction or minor trauma. Prevention begins with family and patient education, with infants requiring greater care and control of their environment. Every individual with EBS will have a treatment plan specifically tailored to the severity and extent of skin involvement. The review offers a comprehensive overview including diagnostic approach, preventative considerations, and current treatments, but no concrete numbers on survival, response rates, or sample sizes are given in any of the abstracts.
No drug is mentioned in any of these abstracts. No trial data, no response rates, no survival figures are reported. What is still missing is any controlled trial of a drug for any subtype of EBS, any patient stratification by specific mutation (KLHL24, EXPH5, KRT5, KRT14), and any funding directed at drug repurposing for this condition. The abstracts describe only case reports and a general review, not interventional studies.
Evidence
Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.
Pediatric Dermatology · 2018 · 13 citations
Burnlike scars: A sign suggestive of <scp>KLHL</scp>24‐related epidermolysis bullosa simplex
AbstractEpidermolysis bullosa simplex is a group of inherited disorders with allelic and locus heterogeneity in which skin fragility and blistering within the skin occur. Mutations in KRT5 and KRT14 underlie the majority of reported cases. Mutations in KLHL24, a gene that encodes KLHL24 protein, have been reported recently to cause a generalized subtype of epidermolysis bullosa simplex, presumably by increasing the degradation of keratin 14. We describe a case of KLHL24-related epidermolysis bullosa simplex and highlight the burn-like pattern of scars.
British Journal of Dermatology · 2015 · 10 citations
Mutations in <i>EXPH5</i> underlie a rare subtype of autosomal recessive epidermolysis bullosa simplex
AbstractFunding sources: This study received funding/support from the National Institute for Health Research Biomedical Research Centre based at Guy's and St Thomas’ NHS Foundation Trust and King's College London. Conflicts of interest: none declared. Dear Editor, Epidermolysis bullosa simplex (EBS) is a heterogeneous disorder with mutations in at least nine different genes underlying various autosomal dominant and recessive subtypes thereof.1 Making an accurate clinical and laboratory diagnosis in some of the less common forms of EBS can be challenging. A 9‐year‐old boy with first‐cousin Pakistani parents presented with skin fragility from birth. He had scattered vesicles and bullae up to 1–2 cm in size on the limbs and trunk (Fig. 1a, b). Blistering was made worse by hot weather. Individual blisters healed within 1–2 weeks, leaving postinflammatory hypopigmentation. His blistering tendency persisted but ameliorated with age. Hair, teeth, nails and mucosae were normal. His 2‐year‐old brother had similar symptoms and signs from birth. Of note, the father of both children, whose parents were also first cousins, had similar skin fragility as a child that resolved completely by 10 years of age. The pattern of inheritance was consistent with autosomal recessive transmission, with possible pseudodominant inheritance, given the father's history of blistering. Unfortunately, the father declined to participate in the study and was not available for further evaluation.
International Journal of Dermatology · 2009 · 8 citations
Epidermolysis bullosa simplex with mottled pigmentation: a case report
AbstractInternational Journal of DermatologyVolume 48, Issue 7 p. 753-754 Epidermolysis bullosa simplex with mottled pigmentation: a case report Christian Andres MD, Christian Andres MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorWenchieh Chen MD, Wenchieh Chen MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorHeidelore Hofmann MD, Heidelore Hofmann MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorJohannes Ring MD, Johannes Ring MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorChristina Schnopp MD, Christina Schnopp MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this author Christian Andres MD, Christian Andres MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorWenchieh Chen MD, Wenchieh Chen MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorHeidelore Hofmann MD, Heidelore Hofmann MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorJohannes Ring MD, Johannes Ring MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this authorChristina Schnopp MD, Christina Schnopp MD From the Department of Dermatology and Allergy at Biederstein, Technische University Munich, Germany Institute for Human Genetics, Albert-Ludwig-University Freiburg, Germany Department for Dermatology, University FreiburgSearch for more papers by this author First published: 16 June 2009 https://doi.org/10.1111/j.1365-4632.2009.03846.xCitations: 5 Dr. med. Christian Andres, MD Department of Dermatology and Allergy at Biederstein Technische University Munich Germany. Biedersteinerstr. 29 D-80802 Munich GermanyE-mail: [email protected] Read the full textAboutPDF ToolsRequest permissionExport citationAdd to favoritesTrack citation ShareShare Give accessShare full text accessShare full-text accessPlease review our Terms and Conditions of Use and check box below to share full-text version of article.I have read and accept the Wiley Online Library Terms and Conditions of UseShareable LinkUse the link below to share a full-text version of this article with your friends and colleagues. Learn more.Copy URL Share a linkShare onFacebookTwitterLinked InRedditWechat No abstract is available for this article.Citing Literature Volume48, Issue7July 2009Pages 753-754 RelatedInformation
Journal of the Dermatology Nurses’ Association · 2022 · 1 citations
Epidermolysis Bullosa Simplex
AbstractABSTRACT Epidermolysis bullosa simplex (EBS) is a rare autosomal dominant, genetic condition where bullous lesions, larger than 0.5 cm, affect an area of the skin that is exposed to mechanical friction or minor trauma. Prevention of the bullous lesions starts with family and patient education, with infants requiring greater care and control of their environment. Every individual with EBS will have a treatment plan specifically tailored to the severity and extent of skin involvement. This article provides a comprehensive overview of EBS, including diagnostic approach, preventative considerations, and current treatments.
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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