ichthyosis hystrix of Curth-Macklin
Findings
No curated finding names ichthyosis hystrix of Curth-Macklin yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Ichthyosis hystrix of Curth-Macklin (IHCM) is a rare type of keratinopathic ichthyosis that is characterized by the presence of severe hyperkeratotic lesions and palmoplantar keratoderma (PPK).
Definition from the Mondo Disease Ontology (MONDO:0007808), read 2026-09-29. CC BY 4.0.
- Inheritance
- Autosomal dominant inheritance
- Onset and course
- Congenital onset
HPO, annotations 2026-09-02
Features
15 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.
- Hyperkeratotic papuleHPOHP:0045059
- 5 of 5 reported patients
- Knuckle padHPOHP:0032541
- 5 of 5 reported patients
- Palmoplantar keratodermaHPOHP:0000982
- 5 of 5 reported patients
- Diffuse palmoplantar hyperkeratosisHPOHP:0007447
- Very frequent (80% to 99% of cases)
- HyperkeratosisHPOHP:0000962
- Very frequent (80% to 99% of cases)
- IchthyosisHPOHP:0008064
- Very frequent (80% to 99% of cases)
- Recurrent skin infections
Show the remaining 3
- Abnormal blistering of the skinHPOHP:0008066
- 0 of 5 reported patients
- Fragile skinHPOHP:0001030
- 0 of 5 reported patients
- Scaling skinHPOHP:0040189
- 0 of 5 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.
- KRT1HGNC:6412
- Definitive · G2P · Autosomal dominant · 2019
- Strong · Genomics England PanelApp · Autosomal dominant · 2021
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
5 names
Resolves to: ichthyosis hystrix of Curth-Macklin
- Also called
- Curth-Macklin type ichthyosis hystrixichthyosis histrix, curth-macklin typeichthyosis hystrix, Curth Macklin typeichthyosis HYSTRIX, Curth-Macklin typeIHCM