ORPHA:464
Incontinentia pigmenti
Also known as: Bloch-Siemens syndrome · Bloch-Sulzberger syndrome
Query health: suspect — Only one of 2 strategies returned hits (phrase).
Publications
2,924
93.2th percentile
Trials
0
Interventional, condition-specific
Researchers
1,217
Distinct authors in sample
Gene link
IKBKG
Definitive
Readiness
2/6
Stages with a signal
Clinical definition (Orphanet)
An X-linked syndromic muti-systemic ectodermal presenting neonatally in females with a bullous rash along Blaschko's lines (BL) followed by verrucous plaques and hyperpigmented swirling patterns. It is further characterized by teeth abnormalities, alopecia, nail and can affect the retinal and the central nervous system (CNS) microvasculature. It may have other aspects of ectodermal such as sweat gland abnormalities. Germline pathogenic variants in males result in embryonic lethality.
How rare: 1-9 / 1 000 000 — roughly one to nine people per million. In a city the size of Kolkata, perhaps a few dozen.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010631
- MeSH:D007184
- OMIM:308300
- UMLS:C0021171
- NCIT:C84787
Additional Mondo synonyms (3)
Incontinentia pigmenti syndrome · incontinentia pigmenti · incontinentia pigmenti, X-linked dominant
Research stages
Trial readiness signals
Where this condition sits on an open-data research pipeline — not how close a treatment is, and not medical advice. Empty stages often mean “not in these databases under this Mondo ID,” not “impossible.”
2/6 stages with a signal
No matched interventional trial; the gene is known and literature exists — preclinical or natural-history work may still be the practical next step.
- Gene identifiedPresent
Definitive — IKBKG
- LiteraturePresent
2,924 matched papers (1,056 in last 10 years) Source
- Phenotype characterisedNot checked
Not yet enriched from Monarch / HPO
- Animal modelNot checked
Not yet enriched from Monarch / Alliance
- Orphan designationNot checked
FDA/EMA orphan-drug designation not enriched yet
- Interventional trialNot found
No matched interventional trial under our ClinicalTrials.gov rules
Biology
Genes and phenotypes
Gene–disease validity from GenCC, plus phenotypes and animal models joined from Monarch Initiative via Mondo ID — not a clinical diagnosis aid.
Do we know what causes it?
Yes — we know a specific gene responsible (IKBKG).
GenCC classification: Definitive.
Phenotypes (Monarch / HPO)
Not enriched in this build — Monarch phenotype joins were not run for this record.
Animal models (Monarch / Alliance)
Not enriched in this build.
Literature
Is anyone studying this?
2,924
2,924 papers have been published on this condition. That is a real research literature — still far smaller than common diseases (breast cancer: over 700,000 papers). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=5449) is 41.
2,924 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 41 (publications denominator n=5449).
1,056 in the last 10 years · high confidence · 93.2th percentile (publications denominator)
Phrase hits: 2,924 · MeSH hits: 0
Who's working on it?
1,217
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
No interventional trial matched this name; these authors publish on it in the sampled literature — a practical starting point for contact.
- 01Zhang H6 papers · 2025
Department of Emergency, Xi'an Children's Hospital (Xi'an Jiaotong University Affiliated Children's Hospital), No.69, Xiju Yuan Lane, Lianhu District, Xi'an, 86-710003, Shaanxi, People's Republic of China. langhua_crystal@stu.xjtu.edu.cn.
Papers in Europe PMC - 02Li H5 papers · 2026
Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Inserm U1163, Necker Hospital for Sick Children, Paris, France.
Papers in Europe PMC - 03Zhang Y5 papers · 2026
Department of Neurology, Children's Hospital of Soochow University, Suzhou, China.
Papers in Europe PMC - 04Chen X4 papers · 2026
Department of Pediatrics, West China Second University Hospital, Sichuan University , Chengdu, Sichuan ,
Papers in Europe PMC - 05Fusco F4 papers · 2026
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.
Papers in Europe PMC - 06Guo Y4 papers · 2025
Lineberger Comprehensive Cancer Center, School of Medicine, University of North Carolina at Chapel Hill, Chapel Hill, NC, United States.
Papers in Europe PMC - 07Li J4 papers · 2026
State Key Laboratory of Pathogenesis, Prevention, and Treatment of Central Asian High Incidence Diseases, Clinical Medical Research Institute, First Affiliated Hospital of Xinjiang Medical University, China; Xinjiang Key Laboratory of Echinococcosis, Clinical Medicine Institute, The First Affiliated Hospital of Xinjiang Medical University, Urumqi, Xinjiang, China; College of pharmacy, Xinjiang Medical University, Urumqi, Xinjiang, China.
Papers in Europe PMC - 08Liu X4 papers · 2025
Diabetes Center, University of California San Francisco , San Francisco, CA, USA.
Papers in Europe PMC - 09Ursini MV4 papers · 2026
Institute of Genetics and Biophysics "Adriano Buzzati-Traverso," IGB-CNR , Naples, Italy.
Papers in Europe PMC - 10Wang J4 papers · 2025
Qingdao University Affiliated Qingdao Women and Childrens Hospital, China. Electronic address: wangjunwei1992@126.com.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
0
interventional trials for this specific condition
No interventional trial testing a treatment matched this specific condition name. 2 observational studies did — shown below because natural-history and cohort work can be an important step toward a trial.
Data as of 27 July 2026
No matched interventional trials. This is true for 73% of diseases in the trials denominator (5114 of 7003). Here are the researchers publishing on it.
high confidence · 36.5th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
No interventional trial testing a treatment was found for this specific condition name on ClinicalTrials.gov.
See who's working on it — people publishing on this disease are often the practical next contact when no trial is listed.
Observational and natural-history studies
2 observational studies match this condition. These do not test a treatment and are not counted in the interventional-trial headline, but they are genuine research: natural-history work often defines the endpoints needed for a future rare-disease trial, and families may be able to enroll.
Recruiting or not-yet-recruiting
- NCT05954416·RECRUITING·FARD (RaDiCo Cohort) (RaDiCo-FARD)
Conditions: Inherited Epidermolysis Bullosa · Ichthyosis · Ectodermal Dysplasia · Incontinentia Pigmenti·Matched via name phrase
Where to find support
We do not yet link condition-specific patient organisations. These umbrella groups support undiagnosed and ultra-rare families:
India — NPRD
Last verified 2026-07-26This ORPHAcode is not on our curated NPRD list (direct or Mondo-parent match). That does not decide clinical eligibility; families in India should ask a notified Centre of Excellence about current coverage.
Hand-curated for this project. ORPHAcode mappings are best-effort and may be incomplete or imprecise for umbrella categories. Parent (Mondo) matches mean the policy lists a broader category — confirm eligibility with a Centre of Excellence. Financial entitlements summarised from public policy statements and may change. This is not official government guidance.
How we counted this
Europe PMC query (preferred label + any corrected label + Orphanet and Mondo exact synonyms, stoplisted; unioned with resolved MeSH labels when available). UMLS / OMIM / NCIT cross-references are stored on the overview but are not added to the query string.
"Incontinentia pigmenti" OR "Bloch-Siemens syndrome" OR "Bloch-Sulzberger syndrome" OR "Incontinentia pigmenti syndrome" OR "incontinentia pigmenti, X-linked dominant"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Incontinentia pigmenti" OR "Bloch-Siemens syndrome" OR "Bloch-Sulzberger syndrome" OR "Incontinentia pigmenti syndrome" OR "incontinentia pigmenti, X-linked dominant" OR "IKBKG"
Recall-expansion terms: IKBKG
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: suspect — strategies attempted: phrase, recall-expansion; with hits: phrase
Run this search on ClinicalTrials.gov
Confidence reasoning
- Preferred label is multi-word and distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:54:40.953Z