inflammatory poikiloderma with hair abnormalities and acral keratoses
MONDO:0859355Mondo
Findings
No curated finding names inflammatory poikiloderma with hair abnormalities and acral keratoses 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 · Childhood onset
HPO, annotations 2026-09-02
Features
8 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.
- AcrokeratosisHPOHP:0200016
- 4 of 4 reported patients
- Mottled pigmentationHPOHP:0001070
- 4 of 4 reported patients
- PoikilodermaHPOHP:0001029
- 4 of 4 reported patients
- Sparse eyelashesHPOHP:0000653
- 4 of 4 reported patients
- Absent eyebrowHPOHP:0002223
- 3 of 4 reported patients
- Pigment incontinenceHPOHP:0034572
- 1 of 2 reported patients
- Sparse scalp hairHPOHP:0002209
- 2 of 4 reported patients
- Sparse eyebrowHPOHP:0045075
- 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.
- LTV1HGNC:21173
- Moderate · PanelApp Australia · Autosomal recessive · 2025
- Limited · Ambry Genetics · Autosomal recessive · 2023
- Limited · Labcorp Genetics (formerly Invitae) · Unknown · 2023
- Limited · G2P · Autosomal recessive · 2025