bathing suit ichthyosis
Findings
No curated finding names bathing suit ichthyosis yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Bathing suit ichthyosis (BSI) is a rare variant of autosomal recessive congenital ichthyosis (ARCI) characterized by the presence of large dark scales in specific areas of the body.
Definition from the Mondo Disease Ontology (MONDO:0015085), read 2026-09-29. CC BY 4.0.
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.
- Epidermal acanthosisHPOHP:0025092
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Scaling skinHPOHP:0040189
- Very frequent (80% to 99% of cases)
- Thickened skinHPOHP:0001072
- Very frequent (80% to 99% of cases)
- Autoamputation of digitsHPOHP:0007460
- Frequent (30% to 79% of cases)
- Congenital nonbullous ichthyosiform erythrodermaHPOHP:0007479
- Frequent (30% to 79% of cases)
- EclabionHPOHP:0012472
- Frequent (30% to 79% of cases)
- EctropionHPOHP:0000656
- Frequent (30% to 79% of cases)
- ErythrodermaHPOHP:0001019
- Frequent (30% to 79% of cases)
- Impaired temperature sensationHPOHP:0010829
- Frequent (30% to 79% of cases)
- ParakeratosisHPOHP:0001036
- Frequent (30% to 79% of cases)
- AlopeciaHPOHP:0001596
- Occasional (5% to 29% of cases)
Reported absent (1)
- Palmoplantar scaling skinHPOHP:0025524
Show the remaining 5
- HypohidrosisHPOHP:0000966
- Occasional (5% to 29% of cases)
- Multiple joint contracturesHPOHP:0002828
- Occasional (5% to 29% of cases)
- Nail dystrophyHPOHP:0008404
- Occasional (5% to 29% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Occasional (5% to 29% of cases)
- Sparse hairHPOHP:0008070
- Occasional (5% to 29% of cases)
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.
- TGM1HGNC:11777
- Supportive · Orphanet · Autosomal recessive · 2021
Where it sits
Other names
1 name
Resolves to: bathing suit ichthyosis
- Also called
- BSI