loricrin keratoderma
Findings
No curated finding names loricrin keratoderma yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A diffuse palmoplantar keratoderma, characterized by honeycomb palmoplantar hyperkeratosis associated with pseudoainhum of the fifth digit of the hand, ichthyosis and deafness. Keratoderma hereditarium mutilans with ichthyosis follows an autosomal dominant mode of transmission.
Definition from the Mondo Disease Ontology (MONDO:0011396), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
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.
- Amniotic constriction ringHPOHP:0009775
- 11 of 11 reported patients
- Honeycomb palmoplantar hyperkeratosisHPOHP:0007465
- 11 of 11 reported patients
- Frequent (30% to 79% of cases)
- HyperkeratosisHPOHP:0000962
- 2 of 2 reported patients
- Frequent (30% to 79% of cases)
- Digital constriction ringHPOHP:0010491
- Very frequent (80% to 99% of cases)
- Generalized ichthyosisHPOHP:0007503
- Very frequent (80% to 99% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Very frequent (80% to 99% of cases)
Show the remaining 7
- AlopeciaHPOHP:0001596
- Occasional (5% to 29% of cases)
- Epidermal acanthosisHPOHP:0025092
- Occasional (5% to 29% of cases)
- Nail dystrophyHPOHP:0008404
- Occasional (5% to 29% of cases)
- OnychogryphosisHPOHP:0001805
- Occasional (5% to 29% of cases)
- OrthokeratosisHPOHP:0040162
- Occasional (5% to 29% of cases)
- Abnormality of the nervous systemHPOHP:0000707
- Very rare (1% to 4% 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.
- LORICRINHGNC:6663
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Strong · Labcorp Genetics (formerly Invitae) · Autosomal dominant · 2021
- Strong · PanelApp Australia · Autosomal dominant · 2025
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
- A kind of
Other names
4 names
Resolves to: loricrin keratoderma
- Also called
- Camisa diseasekeratoderma hereditarium mutilans with ichthyosiskeratoderma-ichthyosiform dermatosis-elevated beta-glucuronidase syndromeVohwinkel syndrome with ichthyosis