Evidence map›Paper›PMID 39623400›Full record

ArticleOrphanet journal of rare diseases2024

Prevalence and clinical characteristics of incontinentia pigmenti: a nationwide population-based study.

Laura Krogh Herlin, Sigrun Alba Johannesdottir Schmidt, Trine H Mogensen, Mette Sommerlund

Abstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Orphanet journal of rare diseases, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

6 citing papers in PubMed.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Impact of data sources and ascertainment methods on reporting paediatric genetic condition prevalence: A scoping review.Health information management : journal of the Health Information Management Association of Australia · 2026
    Article
  6. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

4 authors.

Laura Krogh HerlinDepartment of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark. laujoerg@rm.dk.ORCID 0000-0002-4852-0297
Sigrun Alba Johannesdottir SchmidtDepartment of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark.
Trine H MogensenDepartment of Biomedicine, Aarhus University, Aarhus, Denmark.
Mette SommerlundDepartment of Dermatology, Aarhus University Hospital, Palle Juul-Jensens Boulevard 67, Aarhus N, 8200, Denmark.

Funding

Aase og Ejnar Danielsens Fond 21-10-0447Dagmar Marshalls Fond Dagmar Marshalls FondFonden til Lægevidenskabens Fremme L-2021-00081Frimodt-Heineke Fonden Frimodt-Heineke FondenInstitut for Klinisk Medicin, Aarhus Universitet Institut for Klinisk Medicin, Aarhus UniversitetKongelig Hofbuntmager Aage Bangs Fond Kongelig Hofbuntmager Aage Bangs FondNordic Dermatology Association Nordic Dermatology Association
6 · The paper itself

Abstract

backgroundIncontinentia pigmenti (IP) is an X-linked dominant multisystemic disorder caused by pathogenic variants in the IKBKG gene. Population-based research into the epidemiology of IP is lacking.

methodsThis nationwide cross-sectional study from Jan 1st, 1995 to August 25th, 2021, searched the Danish National Patient Registry (DNPR), the Danish National Database of Rare Genetic Diseases (RareDis) and the Danish Genodermatosis Database to identify patients recorded with a diagnosis of IP. This search was followed by diagnosis validation and collection of clinical data from patient medical records. We investigated the clinical characteristics and genetics of the final cohort of validated IP cases. We estimated the point prevalence in the Danish population, based on non-deceased IP patients currently living in Denmark. Furthermore, we estimated the birth prevalence from 1995 to 2020, assuming a diagnostic delay of up to six months.

resultsWe identified a validated cohort of 75 IP patients, including 71 (94.7%) females and 4 (5.3%) males. We estimated a birth prevalence of 2.37 (95% CI: 1.74-3.25) per 100,000 or 1 in 42,194. A total of 54 (72%) patients had a genetic diagnosis, including 39 (72.2%) with the recurrent exon 4-10 deletion and 10 (18.5%) with point mutations in IKBKG. A positive family history was reported in 53.3%. Besides the recognizable blaschkolinear skin lesions reported in 70 (93.3%) of the patients, commonly reported manifestations included the involvement of the teeth (58.7%), the central nervous system (30.7%), hair (26.7%), and eyes (22.6%), as well as nail dystrophy (16.0%).

conclusionsWe identified and characterized a nationwide population-based cohort of IP patients and report a birth prevalence of 2.37 per 100,000 live births, which is twice as high as previous estimates.

Indexed as

Incontinentia PigmentiAdolescentAdultChildChild, PreschoolCross-Sectional StudiesDenmarkFemaleHumansI-kappa B KinaseInfantMalePrevalenceRegistriesYoung AdultI-kappa B KinaseIKBKG protein, humanEctodermal dysplasiaEpidemiologyIKBKGIncontinentia pigmentiMIM 308300PhenotypePrevalence

Identifiers

PMID39623400
PMCPMC11613904

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.