peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
MONDO:0014574Mondo
Findings
No curated finding names peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
17 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal blistering of the skinHPOHP:0008066
- 4 of 4 reported patients
- AcantholysisHPOHP:0100792
- 1 of 1 reported patient
- Epidermal acanthosisHPOHP:0025092
- 1 of 1 reported patient
- Follicular hyperkeratosisHPOHP:0007502
- 1 of 1 reported patient
- HyperkeratosisHPOHP:0000962
- 1 of 1 reported patient
- LeukonychiaHPOHP:0001820
- 4 of 4 reported patients
- Scaling skinHPOHP:0040189
- 4 of 4 reported patients
- Angular cheilitisHPOHP:0030318
- 3 of 4 reported patients
- CheilitisHPOHP:0100825
- 2 of 4 reported patients
- Fragile skinHPOHP:0001030
- 2 of 4 reported patients
- Oral leukoplakiaHPOHP:0002745
- 2 of 4 reported patients
- Punctate palmoplantar hyperkeratosisHPOHP:0007530
- 2 of 4 reported patients
Show the remaining 5
- Dry skinHPOHP:0000958
- 1 of 4 reported patients
- Knuckle padHPOHP:0032541
- 1 of 4 reported patients
- OnycholysisHPOHP:0001806
- 1 of 4 reported patients
- PruritusHPOHP:0000989
- 1 of 4 reported patients
- Telangiectases of the cheeksHPOHP:0007421
- 1 of 4 reported patients
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- CASTHGNC:1515
- Strong · Genomics England PanelApp · Autosomal recessive · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal recessive · 2023
- Moderate · Ambry Genetics · Autosomal recessive · 2018
- Supportive · Orphanet · Autosomal recessive · 2021
- Limited · G2P · Autosomal recessive · 2025
Where it sits
Other names
1 name
Resolves to: peeling skin-leukonuchia-acral punctate keratoses-cheilitis-knuckle pads syndrome
- Also called
- plack syndrome