keratosis pilaris atrophicans
MONDO:0018855Mondo
Findings
No curated finding names keratosis pilaris atrophicans yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
An uncommon form of keratosis pilaris in which there are scar-like follicular depressions and loss of hair.
Definition from the Mondo Disease Ontology (MONDO:0018855), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal recessive inheritance
- Onset and course
- Infantile onset
HPO, annotations 2026-09-02
Features
10 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.
- Absent eyelashesHPOHP:0000561
- 4 of 4 reported patients · Childhood onset
- ComedoHPOHP:0025249
- 4 of 4 reported patients
- ErythemaHPOHP:0010783
- 4 of 4 reported patients
- Keratosis pilarisHPOHP:0032152
- 4 of 4 reported patients
- PapuleHPOHP:0200034
- 4 of 4 reported patients
- Sparse eyebrowHPOHP:0045075
- 4 of 4 reported patients · Childhood onset
- Abnormality of visionHPO
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.
- LRP1HGNC:6692
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2020