familial pityriasis rubra pilaris
Findings
No curated finding names familial pityriasis rubra pilaris yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare chronic papulosquamous disorder of unknown etiology characterized by small follicular papules, scaly red-orange patches, and palmoplantar hyperkeratosis, which may progress to plaques or erythroderma. Although most of the cases are sporadic and acquired, a familial form of the disease exists.
Definition from the Mondo Disease Ontology (MONDO:0008251), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
19 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.
- ErythrodermaHPOHP:0001019
- Very frequent (80% to 99% of cases)
- Irregular hyperpigmentationHPOHP:0007400
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- PapuleHPOHP:0200034
- Very frequent (80% to 99% of cases)
- Abnormal nail morphologyHPOHP:0001597
- Frequent (30% to 79% of cases)
- PruritusHPOHP:0000989
- Frequent (30% to 79% of cases)
- Subungual hyperkeratosis
Show the remaining 7
- NeoplasmHPOHP:0002664
- Occasional (5% to 29% of cases)
- PustuleHPOHP:0200039
- Occasional (5% to 29% of cases)
- Erythematous plaqueHPOHP:0025474
- HypergranulosisHPOHP:0025114
- Keratosis pilarisHPOHP:0032152
- OrthokeratosisHPOHP:0040162
- ParakeratosisHPOHP:0001036
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.
- CARD14HGNC:16446
- Definitive · G2P · Autosomal dominant · 2025
- Strong · Genomics England PanelApp · Autosomal dominant · 2020
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2023
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
4 names
Resolves to: familial pityriasis rubra pilaris
- Also called
- Devergie's diseasehereditary pityriasis rubra pilarispityriasis rubra pilaris--familial typePRP