ORPHA:444138
Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome
Also known as: PLACK syndrome
Publications
31
42.4th percentile
Trials
96
Interventional, condition-specific
Researchers
178
Distinct authors in sample
Gene link
CAST
Strong
Readiness
3/6
Stages with a signal
Clinical definition (Orphanet)
A rare genetic skin disease characterized by generalized skin peeling or superficial blisters without scarring, leukonychia, acral punctate keratoses coalescing into focal keratoderma on the weight-bearing areas, painful angular cheilitis, and knuckle pads with multiple hyperkeratotic micropapules. The skin appears dry and scaly with superficial exfoliation and underlying erythema. Histopathologic examination of affected skin areas is not specific and shows hyperkeratosis, acanthosis, and occasional intraepidermal clefting with irregular acantholysis.
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:0014574
- OMIM:616295
- UMLS:C4225381
Additional Mondo synonyms (1)
plack 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.”
3/6 stages with a signal
An interventional trial matched this condition name on ClinicalTrials.gov — see trials below.
- Gene identifiedPresent
Strong — CAST
- LiteraturePresent
31 matched papers (28 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 trialPresent
96 matched on ClinicalTrials.gov (17 recruiting in sample)
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 (CAST).
GenCC classification: Strong.
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?
31
31 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=5449) is 41.
31 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).
28 in the last 10 years · medium confidence · 42.4th percentile (publications denominator)
Phrase hits: 31 · MeSH hits: 0
Who's working on it?
178
Distinct author names in 31 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.
- 01Kelsell DP3 papers · 2026
Centre for Cutaneous Research, The Blizard Institute, Barts and The London School of Medicine and Dentistry, Queen Mary University of London, London E1 2AT, UK. Electronic address: d.p.kelsell@qmul.ac.uk.
Papers in Europe PMC - 02Lin Z2 papers · 2023
Department of Dermatology, Peking University First Hospital, Beijing 100034, China; Beijing Key Laboratory of Molecular Diagnosis on Dermatoses, Beijing 100034, China.
Papers in Europe PMC - 03Liu L2 papers · 2020
National Diagnostic EB Laboratory, Viapath, St Thomas' Hospital, London, UK.
Papers in Europe PMC - 04McGrath JA2 papers · 2020
St John's Institute of Dermatology, King's College London, Guy's Hospital, London, UK.
Papers in Europe PMC - 05Mohamad J2 papers · 2025
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 06O'Toole EA2 papers · 2020
Centre for Cell Biology and Cutaneous Research, The Blizard Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London
Papers in Europe PMC - 07Sarig O2 papers · 2025
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC - 08Schwartz ME2 papers · 2016
Pachyonychia Congenita Project, Salt Lake City, UT, USA.
Papers in Europe PMC - 09
- 10Sprecher E2 papers · 2025
Department of Dermatology, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
Papers in Europe PMC
Clinical research
Is a treatment being tested?
96
interventional trials for this specific condition
96 interventional trials matched this specific condition name; 17 currently recruiting in our sample.
Data as of 27 July 2026
96 interventional trials — more than 73% of diseases in the trials denominator have none at all (5114 of 7003; this disease is at the 98.4th percentile).
medium confidence · 98.4th percentile (trials denominator)
Recruiting interventional trials
From the matched ClinicalTrials.gov set
96 interventional trials matched after quoted-phrase search and title/condition post-filter.
- NCT05536609·RECRUITING·Cast Or ePineural Suture for Digital Nerve Injuries - a Randomised Controlled Study
Conditions: Digital Nerve Injury·Matched via recall expansion
- NCT06573554·RECRUITING·Contact Cast Versus Posterior Slab as Offloading Modality for Charcot Neuroarthropathy
Conditions: Charcot Neuroarthropathy·Matched via recall expansion
- NCT06990555·RECRUITING·Cast Art for Kids With Extremity Fractures
Conditions: Fractures, Bone·Matched via recall expansion
- NCT06309160·RECRUITING·COMPASS Across Settings (CAST) for Improving Transition Outcomes for Students With ASD
Conditions: Autism · Autism Spectrum Disorder · Autistic Disorder·Matched via recall expansion
- NCT05131672·RECRUITING·Cast or Operation for Medial Epicondyle Fracture Treatment in Children
Conditions: Fracture Elbow·Matched via recall expansion
- NCT07477327·NOT YET RECRUITING·Is 6 Weeks Immobilization for a Chopart Injury Still State of the Art? Comparison Between Cast Immobilization Versus Functional Treatment
Conditions: Foot Ankle Injuries·Matched via recall expansion
- NCT06022419·RECRUITING·Conservative Therapy of Proximal Phalanx Fractures - Comparing the Lucerne Cast With Finger Splinting
Conditions: Proximal Phalanx Fracture·Matched via recall expansion
- NCT04210089·RECRUITING·Total Contact Soft Cast in Diabetic Foot Ulcers
Conditions: Diabetic Foot Ulcer · Diabetes Mellitus · Foot Ulcer · Foot Ulcer, Diabetic·Matched via recall expansion
- NCT06678438·RECRUITING·Brachial Plexus Nerve Block Versus Haematoma Block for Closed Reduction of Distal Radius Fracture in Adults - The BLOCK Trial. A Multicentre Randomised Controlled Trial.
Conditions: Distal Radius Fractures · Fracture Dislocation · Fracture Dislocation of Upper Limb Joint · Colles' Fracture·Matched via recall expansion
- NCT07234370·ENROLLING BY INVITATION·Distal Radial Fractures in Adult Patients: 4 Weeks Versus 6 Weeks of Cast Immobilization
Conditions: Fracture Forearm · Radius Distal Fracture·Matched via recall expansion
- NCT07616947·NOT YET RECRUITING·Intramedullary Screw Fixation Versus Closed Reduction and Percutaneous Pinning With Cast Immobilization
Conditions: Metacarpal Fracture · Phalanx Fracture·Matched via recall expansion
- NCT07650370·NOT YET RECRUITING·Pilot Study on the Validity, Tolerability, and Impact of a Walking Rehabilitation Intervention Using Cruro-Malleolar Cast in Children With Cerebral Palsy
Conditions: Cerebral Palsy·Matched via recall expansion
- NCT07281469·NOT YET RECRUITING·Comparison of Functional Outcomes of Closed Reduction With Cast Versus Closed Reduction With K-Wire Fixation in Colles' Fracture
Conditions: Colles' Fracture·Matched via recall expansion
- NCT07683715·RECRUITING·Virtual Reality-Assisted Cast Application in Children With Forearm Fractures
Conditions: Forearm Fractures · Procedural Anxiety · Doctor-Related Fear·Matched via recall expansion
- NCT05156749·RECRUITING·Short and Long-arm Fiberglass Cast Immobilization for Distal Salter Harris I and II Forearm Fractures in Children
Conditions: Fracture Forearm·Matched via recall expansion
Observational and natural-history studies
19 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
- NCT06858462·NOT YET RECRUITING·Evaluation of Dental Caries Using Caries Assessment Spectrum and Treatment Need (CAST) Index, International Caries Detection and Assessment System (ICDAS) Index and World Health Organization (WHO) Index
Conditions: Caries Experience·Matched via recall expansion
- NCT06065852·RECRUITING·National Registry of Rare Kidney Diseases
Conditions: Adenine Phosphoribosyltransferase Deficiency · AH Amyloidosis · AHL Amyloidosis · AL Amyloidosis·Matched via recall expansion
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.
"Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" OR "PLACK syndrome"
ClinicalTrials.gov query (quoted phrases + MeSH via query.cond, plus recall-expansion terms when used):
"Peeling skin-leukonychia-acral punctate keratoses-cheilitis-knuckle pads syndrome" OR "PLACK syndrome" OR "CAST"
Recall-expansion terms: CAST
Interventional trials matched via: recall-expansion (mesh = registered under a MeSH descriptor no name phrase would catch; recall-expansion = gene / selected parent terms used only for trials).
Study-type breakdown: 96 interventional · 19 observational · 0 expanded access. Only interventional studies enter the trial headline.
Query health: ok — strategies attempted: phrase, recall-expansion; with hits: phrase, recall-expansion
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
- Trial count (96) far exceeds publication count (31) — trial matching may still be loose
Ingested 2026-07-27T16:29:16.409Z