Rare & Orphan Lab · DeCure for X

DeCure for Congenital non-bullous ichthyosiform erythroderma

DeCure's autonomous Rare AI scientist is researching a drug-repurposing hypothesis for congenital non-bullous ichthyosiform erythroderma — screening already-approved drugs against its 7-gene Open Targets disease module to publish open-access research. Research is fast; the path to publication is funded in milestone stages.

Disease module7 genesLead labRare & Orphan
All cures
Rare & OrphanDOID:1699$DeCureRare

The disease map

Disease moduleCongenital non-bullous ichthyosiform erythroderma maps to a 7-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 congenital non-bullous ichthyosiform erythroderma 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

sulfotransferase family 2B member 1 (SULT2B1)SULT2B1 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 a3pdrag to rotate · scroll to zoom

RCSB Protein Data Bank · entry 1Q1Q · 2.91 Å · ligand ADENOSINE-3'-5'-DIPHOSPHATE (A3P). Experimental structure, not a prediction.

What the evidence adds up to

A 1986 study of a single patient with congenital non-bullous ichthyosiform erythroderma measured cell birth-rates and the labelling index before and after a course of oral etretinate. The cell birth-rate after treatment was less than half the pretreatment rate. The labelling index showed little change. The authors concluded that the therapeutic effects of oral etretinate may be partly due to suppression of cell renewal, and that the labelling index alone is an unreliable indicator of proliferative activity. No other drug treatments appear in the provided abstracts.

Earlier literature, from 1948 and 1969, describes the disease historically. Brocq first described congenital ichthyosiform erythroderma in 1902. By 1917, MacKee and Rosen had reviewed 45 cases. A 1969 report describes a child with a unilateral form of the condition, accompanied by marked hypoplasia and aplasia of bone and brain on the same side as the skin involvement, suggesting a possible teratogenic effect but not proving it. A 2019 article discusses a sporadic case of the bullous form (Brock’s congenital ichthyosiform erythroderma), noting autosomal dominant inheritance and the importance of differential diagnosis.

The evidence for any treatment is limited to a single-patient study from 1986. No controlled trials, no data on symptom relief or quality of life, and no comparisons between drugs are available in these abstracts. What is missing is any randomised trial, any study with more than one patient, any measurement of clinical outcomes such as scaling or erythema, and any investigation of patient stratification by genetic subtype.

Evidence

Retrieved by DeepSearch across 234,678,978 indexed works and resolved on OpenAlex — ranked by citations, including the results that did not work.

Archives of Dermatology · 1969 · 27 citations

Congenital Unilateral Ichthyosiform Erythroderma

AbstractA child with congenital unilateral ichthyosiform erythroderma is described. There is marked hypoplasia and aplasia of bony structures and the brain on the same side as the skin involvement. A teratogenic effect is suggested, but not proven. The constellation of signs and symptoms in this patient is so similar to that of the patient reported by Rossman and associates that the existence of a distinctive clinical entity is suggested.

https://doi.org/10.1001/archderm.1969.01610240082015
Archives of Dermatology · 1948 · 26 citations

CONGENITAL ICHTHYOSIFORM ERYTHRODERMA

AbstractCONGENITAL ichthyosiform erythroderma was described by Brocq 1 in 1902 after the prolonged observation of several patients in whom the disease was characterized by diffuse redness beginning at birth, a shiny appearance of the face and widespread hyperkeratosis resembling ichthyosis. The first and most important consideration of the subject in the English literature was by MacKee and Rosen, 2 whose important monograph was published in 1917. These authors completely reviewed the literature on the subject and presented the history of the disease and a detailed discussion of the clinical and histologic features. MacKee and Rosen also discussed the nosologic position of congenital ichthyosiform erythroderma, especially regarding its relationship to ordinary ichthyosis. These authors found that up to 1917 a total of 45 cases of the disease had been reported. In 1925 Weiss and Tobias 3 reviewed the literature from 1917. They found 10 additional cases and reported 6 of their own.

https://doi.org/10.1001/archderm.1948.01520170013002
Archives of Pediatrics and Adolescent Medicine · 1979 · 10 citations

Congenital Unilateral Ichthyosis in a Newborn

AbstractIchthyosiform erythroderma is a rare phenomenon occurring in about 1/300,000 live births. Congenital unilateral ichthyosis, described in this case report, is a clinical variant of ichthyosis. Only five previous cases have been reported. In the patient described in this report, superimposed infection of the affected skin developed. Her immunologic system was intact. She manifested failure to thrive, in spite of an adequate caloric intake, and markedly delayed psychomotor development. This patient also demonstrated absorption from the affected dermis of topically applied urea hydrophilic base ointment. She died before her first birthday.

https://doi.org/10.1001/archpedi.1979.02130010082016
Clinical and Experimental Dermatology · 1986 · 8 citations

Congenital non-bullous ichthyosiform erythroderma-cell kinetics before and after treatment with etretinate

AbstractCell birth‐rates and the labelling index (LI) were measured in a patient with congenital nonbullous ichthyosiform erythroderma (CIE). Measurements were made before and after a course of oral etretinate. The cell birth‐rate, following treatment, was less than half of the pretreatment rate. The LI showed little change. The therapeutic effects of oral etretinate may be, to some extent, due to a suppression of cell renewal. The fact that the LI was unchanged when cell production was reduced indicates that the LI alone is an unreliable indicator of proliferative activity.

https://doi.org/10.1111/j.1365-2230.1986.tb00489.x
Archives of Dermatology · 1986 · 2 citations

A mother and two children with nonbullous congenital ichthyosiform erythroderma

Abstract• A mother and her two daughters were all afflicted by congenital nonbullous ichthyosis. The clinical and ultrastructural picture are in accordance with recessive congenital ichthyosiform erythroderma. The mode of inheritance for the children is assumed to be by pseudodominance. Nonbullous congenital ichthyosiform erythroderma and lamellar ichthyosis are probably heterogeneous. (<i>Arch Dermatol</i>1986;122:559-564)

https://doi.org/10.1001/archderm.122.5.559
Vestnik dermatologii i venerologii · 2019 · 1 citations · open access

Clinical case of Brock’s congenital ichthyosiform erythroderma

AbstractThis article describes a sporadic case of Brock’s bullous congenital ichthyosiform erythroderma. This is a rare hereditary disease from the group of genodermatoses with an autosomal dominant type of inheri - tance. The questions of the prevalence of dermatosis, the variability of the clinical picture, the timeliness of the clinical diagnosis are considered. Particular attention is paid to skin manifestations and their differential diagnosis.

https://doi.org/10.25208/0042-4609-2019-95-3-46-53
British Journal of Dermatology · 1983 · 0 citations

(16) Non-bullous ichthyosiform erythroderma

AbstractJournal Article (16) Non‐bullous ichthyosiform erythroderma Get access Suzanne Alexander Suzanne Alexander Barking Hospital, Essex Search for other works by this author on: Oxford Academic Google Scholar British Journal of Dermatology, Volume 109, Issue s24, 1 July 1983, Pages 68–69, https://doi.org/10.1111/j.1365-2133.1983.tb11624.x Published: 01 July 1983

https://doi.org/10.1111/j.1365-2133.1983.tb15349.x

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.