ORPHA:59303
Neonatal ichthyosis-sclerosing cholangitis syndrome
Also known as: IHSC · Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome · NISCH syndrome
Clinical definition (Orphanet)
ichthyosis-sclerosing cholangitis (NISCH syndrome) is a very rare complex ichthyosis syndrome characterized by scalp hypotrichosis, scarring alopecia, ichthyosis and sclerosing cholangitis.
How rare: <1 / 1 000 000 — fewer than one in a million. In a city the size of Kolkata, that might mean on the order of fifteen people.
Is anyone studying this?
244
244 papers have ever been published on this condition (under this name). For scale, breast cancer has over 700,000. Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=183) is 38.
244 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 38 (publications denominator n=183).
132 in the last 10 years · medium confidence · 71.9th percentile (publications denominator)
Is a treatment being tested?
2
trials for this specific condition
2 interventional trials matched this specific condition name; 2 currently recruiting in our sample. 100 trials are registered for sclerosing cholangitis, the broader category — shown separately because they may or may not enrol this specific subtype.
Data as of 26 July 2026
100
trials for sclerosing cholangitis, the broader category this belongs to
Trials registered for a broader category may or may not enrol people with this specific subtype — eligibility criteria vary, and the trial record often doesn't say. Worth raising with a clinician. How we count trials.
2 interventional trials — more than 59.2% of diseases in the trials denominator have none at all (151 of 255; this disease is at the 74.7th percentile).
medium confidence · 74.7th percentile (trials denominator)
Do we know what causes it?
Yes — we know a specific gene responsible (CLDN1).
GenCC classification: Definitive.
Who's working on it?
1,181
Distinct author names in 200 sampled papers — named people below.
Who's working on it?
People publishing on this condition (sampled Europe PMC records). Affiliation is the most recent found in that sample.
- 01Wang Y7 papers · 2025
‡Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.
Papers in Europe PMC - 02Zhang Y6 papers · 2022
Department of Orthopaedic Surgery, New York University Medical Center, New York, NY, 10003.
Papers in Europe PMC - 03Zhou Y6 papers · 2022
†Department of Pediatric Surgery, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University (SJTU), 1665 Kongjiang Road, Shanghai 200092, China.
Papers in Europe PMC - 04Hadj-Rabia S5 papers · 2022
Département de Génétique, Hôpital Necker-Enfants Malades, Paris, France.
Papers in Europe PMC - 05Cai W4 papers · 2017
†Department of Pediatric Surgery, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University (SJTU), 1665 Kongjiang Road, Shanghai 200092, China.
Papers in Europe PMC - 06Hohl D4 papers · 2022
Department of Dermatology, University Hospital Center of Lausanne, Lausanne, Switzerland.
Papers in Europe PMC - 07Vahidnezhad H4 papers · 2022
Department of Dermatology and Cutaneous Biology, Sidney Kimmel Medical College and Jefferson Institute of Molecular Medicine, Thomas Jefferson University, Philadelphia, Pennsylvania, USA.
Papers in Europe PMC - 08Wang J4 papers · 2017
†Department of Pediatric Surgery, Xin Hua Hospital, School of Medicine, Shanghai Jiao Tong University (SJTU), 1665 Kongjiang Road, Shanghai 200092, China.
Papers in Europe PMC - 09Wen J4 papers · 2017
‡Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.
Papers in Europe PMC - 10Xiao Y4 papers · 2022
‡Shanghai Key Laboratory of Pediatric Gastroenterology and Nutrition, Shanghai Institute for Pediatric Research, 1665 Kongjiang Road, Shanghai 200092, China.
Papers in Europe PMC
Recruiting interventional trials
Trials testing a treatment from the matched ClinicalTrials.gov set
2 interventional trials matched after quoted-phrase search and title/condition post-filter.
Observational and natural-history studies
1 observational study matches 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.
None of the matched observational studies is currently listed as recruiting.
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 below but are not added to the query string.
"Neonatal ichthyosis-sclerosing cholangitis syndrome" OR "Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" OR "NISCH syndrome"
MeSH descriptor terms unioned into the query: Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Neonatal ichthyosis-sclerosing cholangitis syndrome" OR "Ichthyosis-hypotrichosis-sclerosing cholangitis syndrome" OR "NISCH syndrome" OR "Ichthyosis, Leukocyte Vacuoles, Alopecia, And Sclerosing Cholangitis" OR "CLDN1" OR "inherited ichthyosis"
Interventional trials matched via: phrase (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 2 interventional · 1 observational · 0 expanded access. Only interventional studies enter the trial headline.
Cross-references (from Mondo): MESH:C564365 OMIM:607626 UMLS:C1843355
Query health: ok — strategies attempted: phrase, mesh, recall-expansion; with hits: phrase, mesh, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: IHSC
Confidence reasoning
- Preferred label is multi-word and distinctive
- 1 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus