ORPHA:370052
SCALP syndrome
Also known as: Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
Query health: suspect — Source fetch failed for trials.
Publications
183,328
Trials
—
Interventional, condition-specific
Researchers
204
Distinct authors in sample
Gene link
—
Readiness
1/6
Stages with a signal
Clinical definition (Orphanet)
SCALP syndrome is a rare skin disease characterized by the association of sebaceous nevus and aplasia cutis congenita (usually on the scalp and face) in conjunction with limbal dermoid of the eye, a giant melanocytic nevus and variable central nervous system abnormalities, including , hydrocephalus, neurocutaneous melanosis, arachnoid cysts, and diffuse unilateral hemisphere enlargement.
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.
Cross-references
Joined from Mondo / Orphanet. MeSH labels may enter searches; UMLS / OMIM / NCIT are stored for reference.
- MONDO:0018260
- UMLS:C4751599
Additional Mondo synonyms (2)
sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome · sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome
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.”
1/6 stages with a signal
Research-stage checklist from open sources (GenCC, literature, Monarch when enriched, ClinicalTrials.gov). Not a prognosis or care recommendation.
- Gene identifiedNot found
No GenCC disease–gene assertion in this build
- LiteraturePresent
183,328 matched papers (95,925 in last 10 years) Source
- Phenotype characterisedNot found
No HPO disease–phenotype associations via Monarch for these Mondo IDs
- Animal modelNot found
No Alliance genotype “model of” associations via Monarch for these Mondo IDs
- Orphan designationNot found
No FDA or EMA orphan-drug designation matched this disease via UMLS or preferred name Source
- Interventional trialNot checked
Trial fetch failed or incomplete
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?
Not yet — the cause hasn't been pinned down in GenCC.
No strong gene–disease assertion joined for this Orphanet entity.
Phenotypes (Monarch / HPO)
None returned for this Mondo ID. That often means “not linked under this ID,” not “no clinical features.”
Animal models (Monarch / Alliance)
None returned for this Mondo ID. Empty here is not proof that no model organism work exists under another name or gene.
Monarch fetch 2026-07-27
Therapies
Designations, candidates, and chemicals
FDA OOPD and EMA orphan designations, Open Targets clinical candidates, and CTD chemical associations via MyDisease.info. These never change the interventional-trial headline.
Orphan designation (FDA · EMA)
No designation matched this disease via UMLS or preferred name on the FDA OOPD mirror or EMA orphan register. Absence here is not proof that none exists under another wording.
Open Targets candidates
No drugs or clinical candidates returned for this Mondo ID on Open Targets.
CTD chemicals (MyDisease.info)
No CTD chemical associations returned for this Mondo ID.
Literature
Is anyone studying this?
183,328
183,328 papers — among the better-studied rare conditions, though still a fraction of common-disease literature (breast cancer: over 700,000). Median papers in the last 10 years for a rare disease in this dataset (publications denominator n=3967) is 59.
183,328 papers since the earliest indexed year in this search — median last-10-year count for a rare disease in this dataset is 59 (publications denominator n=3967).
95,925 in the last 10 years · low confidence
Phrase hits: 54 · MeSH hits: 0
Who's working on it?
204
Distinct author names in 54 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.
- 01Wollina U3 papers · 2025
Department of Dermatology and Allergology, Städtisches Klinikum Dresden, Academic Teaching Hospital, Dresden, Germany. Electronic address: Uwe.Wollina@klinikum-dresden.de.
Papers in Europe PMC - 02Nguyen CTH2 papers · 2026
Department of Dermatology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Papers in Europe PMC - 03Pham N2 papers · 2026
Department of Dermatology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Papers in Europe PMC - 04Scott MJ Jr2 papers · 2007
Seattle Dermatology Center, 509 Olive Way, Seattle, WA 98101, USA.
Papers in Europe PMC - 05Trüeb RM2 papers · 2023
Department of Dermatology, Center for Dermatology and Hair Diseases, Wallisellen, Zurich, Switzerland.
Papers in Europe PMC - 06Van TT2 papers · 2026
Department of Dermatology, University of Medicine and Pharmacy at Ho Chi Minh City, Ho Chi Minh City, Vietnam.
Papers in Europe PMC - 07Abbas O1 paper · 2022
Department of Dermatology, American University of Beirut Medical Center, Beirut, Lebanon. Electronic address: ossamaabbas2003@yahoo.com.
Papers in Europe PMC - 08Abdullah W1 paper · 2024
Department of Plastic Surgery, Bahawal Victoria Hospital, Bahawalpur, Pakistan
Papers in Europe PMC - 09Ahmad SF1 paper · 2024
Department of Pharmacology and Toxicology, College of Pharmacy, King Saud University, Riyadh 11451, Saudi Arabia.
Papers in Europe PMC - 10
Clinical research
Is a treatment being tested?
—
interventional trials for this specific condition
We could not load trial data for this condition right now.
Data as of 9 September 2026 · last trial check 31 July 2026
low confidence
Recruiting interventional trials
From the matched ClinicalTrials.gov set
Trial data could not be loaded for this build. This is not the same as finding zero interventional trials.
Other registries (secondary)
Broader net from EU CTIS, ISRCTN, and ICTRP when available — deduped against ClinicalTrials.gov IDs already counted above. Dual-model LLM relevance gates what we keep. These rows are not added to the interventional headline.
raw 23 · after dedupe 23 · already on CT.gov 0 · kept 0 · parent 0 · uncertain 23 · dropped 0 · fetched 2026-07-27
Source notes: ictrp: Error: ICTRP public search unavailable (WHO portal is SPA-only; SOAP needs partnership). Tried: https://apps.who.int/tri
No secondary-registry studies passed dual-model relevance for this condition name (after dedupe).
Uncertain / not reviewed (23)
- isrctn·ISRCTN10621395·Recruiting·CAR-T cells for children with CNS tumours
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN11929806·Recruiting·A study to evaluate Adex Gel in the treatment of actinic keratosis
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN15436092·No longer recruiting·Evaluation of the efficacy of Satiny Hair Oil for hair growth
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN48019242·No longer recruiting·New approaches of transcranial magnetic stimulation in the treatment of addiction and depression
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN78231121·No longer recruiting·Testing 123I-ATT001, a new type of targeted radiotherapy, administered directly to the brain tumour of patients in whom the glioblastoma has returned after previous treatment
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN15356845·Recruiting·A CAR T study for paediatric-type diffuse high-grade gliomas including diffuse midline glioma
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN56047723·Recruiting·Transcranial alternating current stimulation for cognitive deficit in schizophrenia: effects and electrophysiological changes
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN49497250·Recruiting·Predicting response to treatment in early Lewy body disease
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN17814224·No longer recruiting·A study investigating whether sleep can be measured accurately at home in people with early Alzheimer’s disease
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN13390479·Recruiting·The neurocognitive benefits of proton beam therapy for patients with oligodendroglioma
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN12913513·No longer recruiting·Acupuncture therapy of “regulating spirit and soothing liver” for treating insomnia in patients with breast cancer
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN55942704·No longer recruiting·Assessment of characteristic disease signs and evaluation of a treatment approach with low-intensity electrical brain stimulation in persons with visual snow syndrome
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN16052954·No longer recruiting·The survival benefits of re-irradiation and chemotherapy for patients with relapsed glioblastoma
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN17937049·No longer recruiting·Feasibility and acceptability of transcranial stimulation in obsessive-compulsive symptoms
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN16758036·No longer recruiting·Trial of a non-invasive stimulation method to treat visual hallucinations in people with macular degeneration
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN13280178·No longer recruiting·Antipsychotic medication and weight gain: effects of neuromodulation and cognitive training
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN35717198·No longer recruiting·Cognitive Training with Non-invasive Brain Stimulation to Treat Binge Eating Disorder
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN14435750·No longer recruiting·Study of hallucinations in Parkinson's disease, eye disease and dementia- trial feasibility
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN40973936·No longer recruiting·Pregnancy and chronic hypertension; nifedipine or labetalol as anti-hypertensive treatment
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN18043449·No longer recruiting·A study of pre-clinical joint disease in psoriasis and the imaging response to ustekinumab
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN19093443·No longer recruiting·Electrical brain activity patterns in children with Tourette syndrome and ADHD
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN73378715·Stopped·Do individuals with red hair need more anaesthetic than those with dark hair?
Uncertain — At least one provider returned uncertain or parent-category.
- isrctn·ISRCTN65963042·No longer recruiting·A multicentre randomised controlled trial of amnioinfusion
Uncertain — At least one provider returned uncertain or parent-category.
Where to find support
Condition-specific patient organisations, when Orphanet lists them, are on the disease’s Orphanet page. We also link umbrella groups that support undiagnosed and ultra-rare families.
Orphanet entry for SCALP syndrome — check Associations / patient organisations on that page.
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.
("SCALP syndrome" OR "Sebaceous nevus-CNS malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome" OR "Sebaceous nevus-central nervous system malformations-aplasia cutis congenital-limbal dermoid-pigmented nevus syndrome") OR ("SCALP" OR "SCALP-related")ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"SCALP syndrome"
Query health: suspect — strategies attempted: phrase; with hits: phrase
Run this search on ClinicalTrials.gov
Source errors: trials: Error: HTTP 400 for https://clinicaltrials.gov/api/v2/studies?query.cond=%22SCALP%20syndrome%22%20OR%20%22Sebaceous%20nevus-CNS%20malformations-aplasia%20cutis%20congenital-limbal%20dermoid-pigmented%20nevus%20syndrome%22%20OR%20%22Sebaceous%20nevus-central%20nervous%20system%20malformations-aplasia%20cutis%20congenital-limbal%20dermoid-pigmented%20nevus%20syndrome%22&format=json&pageSize=100&countTotal=true
Confidence reasoning
- Preferred label is short or not clearly distinctive
- No synonyms dropped by stoplist
- No label/synonym collisions with other diseases in this corpus
- Publication count (183328) is implausibly high for prevalence class "<1 / 1 000 000" — treat as possible over-matching, not a measure of research intensity
Ingested 2026-07-26T02:29:57.490Z