ORPHA:461
Recessive X-linked ichthyosis
Also known as: RXLI · Steroid sulfatase deficiency · X-linked ichthyosis · XLI
Publications
1,287
88.7th percentile
Trials
0
Interventional, condition-specific
Researchers
999
Distinct authors in sample
Gene link
STS
Definitive
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic skin disease belonging to the Mendelian Disorders of Cornification (MeDOC) and characterized by generalized hyperkeratosis and scaling of the skin. The condition is rather mild.
How rare: 1-5 / 10 000 — about one to five people per ten thousand (still uncommon, but less ultra-rare).
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0010622
- OMIM:308100
- UMLS:C0079588
- NCIT:C84779
Additional Mondo synonyms (6)
Ichthyosis, X Linked · X-linked recessive ichthyosis · ichthyosis (disease), X-linked · ichthyosis , X-linked, X-linked recessive · recessive X-linked ichthyosis · steroid sulfatase deficiency
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.”
3/6 stages with a signal
No specific-condition interventional trial, but broader-category trials exist — discuss eligibility with a clinician.
- Gene identifiedPresent
Definitive — STS
- LiteraturePresent
1,287 matched papers (425 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 trialPartial
None under the specific name; 29 for broader category ichthyosis
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 (STS).
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?
1,287
1,287 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.
1,287 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).
425 in the last 10 years · medium confidence · 88.7th percentile (publications denominator)
Phrase hits: 1,287 · MeSH hits: 0
Who's working on it?
999
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.
- 01Davies W13 papers · 2026
School of Psychology, Cardiff University, Cardiff, United Kingdom.
Papers in Europe PMC - 02Traupe H9 papers · 2026
Department of Dermatology, University Hospital of Münster, Münster, Germany.
Papers in Europe PMC - 03
- 04Oji V7 papers · 2026
Department of Dermatology, University of Münster, 48149 Münster, Germany.
Papers in Europe PMC - 05Wren GH7 papers · 2026
School of Psychology, Cardiff University, Cardiff, United Kingdom.
Papers in Europe PMC - 06Akiyama M6 papers · 2025
Department of Dermatology, Nagoya University Graduate School of Medicine, Japan. makiyama@med.nagoya-u.ac.jp
Papers in Europe PMC - 07Fischer J6 papers · 2026
Institute of Human Genetics, Medical Center, Faculty of Medicine, University of Freiburg, DE-79106 Freiburg, Germany. judith.fischer@uniklinik-freiburg.de.
Papers in Europe PMC - 08Paller AS6 papers · 2025
Department of Dermatology Northwestern University Feinberg School of Medicine Chicago Illinois USA.
Papers in Europe PMC - 09Park H6 papers · 2026
College of Pharmacy and Center for Metareceptome Research, Chung-Ang University, Seoul, 06974, Republic of Korea.
Papers in Europe PMC - 10Chun YJ5 papers · 2026
College of Pharmacy and Center for Metareceptome Research, Chung-Ang University, Seoul, 06974, Republic of Korea. yjchun@cau.ac.kr.
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. 29 trials are registered for ichthyosis, the broader category — shown separately because they may or may not enrol this specific subtype.
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.
medium 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.
29 interventional trials matched ichthyosis, the broader category — listed below. Those studies are not counted in the condition-specific total.
Broader category: ichthyosis
29
Interventional trials for the parent category, exclusive of NCT IDs already counted above. Eligibility for this subtype is not guaranteed.
Worth raising with a clinician. How we count trials.
Recruiting under the broader category
- NCT07689435·NOT YET RECRUITING·Cholesterol Cream vs Urea Cream for Skin Barrier and Quality of Life in Ichthyosis
Conditions: Autosomal Recessive Congenital Ichthyosis · Skin Barrier Dysfunction · Ichthyosis Inherited·Matched via name phrase
- NCT06545695·NOT YET RECRUITING·Epidermal Growth Factor Receptor Inhibition for Keratinopathies
Conditions: Epidermolytic Ichthyosis · Palmoplantar Keratoderma · Pachyonychia Congenita·Matched via name phrase
- NCT06362447·NOT YET RECRUITING·Efficacy of Injectable Gentamicin in Hereditary Ichthyosis
Conditions: Ichthyosis·Matched via name phrase
- NCT06136403·RECRUITING·A 44-week Monocentric Open Study Assessing the Efficacy and Safety of Deucravacitinib in Adults With Inflammatory Genodermatoses
Conditions: Epidermolysis Bullosa Simplex · Ichthyosis · Genodermatosis · Inflammatory Congenital Ichthyoses·Matched via name phrase
- NCT05979506·RECRUITING·Evaluate the Evolution of Body and Scalp Skin Discomfort in Patients With Hereditary Ichthyosis After Wraps (EnvelopIchtyose)
Conditions: Ichthyosis Inherited·Matched via name phrase
- NCT07050810·ENROLLING BY INVITATION·Thera-Clean® Microbubbles System in Patients With Skin Diseases
Conditions: Epidermolysis Bullosa · Ichthyosis · Atopic Dermatitis · Psoriasis·Matched via name phrase
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.
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 on the overview but are not added to the query string.
"Recessive X-linked ichthyosis" OR "Steroid sulfatase deficiency" OR "X-linked ichthyosis" OR "Ichthyosis, X Linked" OR "X-linked recessive ichthyosis" OR "ichthyosis (disease), X-linked" OR "ichthyosis , X-linked, X-linked recessive"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Recessive X-linked ichthyosis" OR "Steroid sulfatase deficiency" OR "X-linked ichthyosis" OR "Ichthyosis, X Linked" OR "X-linked recessive ichthyosis" OR "ichthyosis (disease), X-linked" OR "ichthyosis , X-linked, X-linked recessive" OR "STS" OR "inherited ichthyosis" OR "X-linked recessive disease"
Recall-expansion terms: STS, inherited ichthyosis, X-linked recessive disease
Study-type breakdown: 0 interventional · 2 observational · 0 expanded access. Only interventional studies enter the trial headline.
Parent-category trials query:
"ichthyosis"
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
Run this search on ClinicalTrials.gov
Synonyms dropped by stoplist: RXLI; XLI
Confidence reasoning
- Preferred label is multi-word and distinctive
- 2 synonym(s) dropped by stoplist (may under-count)
- No label/synonym collisions with other diseases in this corpus
Ingested 2026-07-26T13:54:19.664Z