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ichthyosis hystrix of Curth-Macklin - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis hystrix of Curth-Macklin

MONDO:0007808

Also known as:Curth-Macklin type ichthyosis hystrixIHCMIchthyosis Hystrix, Curth Macklin Type

Overview

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).

GeneticsAutosomal dominant · KRT1 (chr 12)

ResearchLimited published research (2 articles)

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include always present findings: Hyperkeratotic papule, Knuckle pad, and Palmoplantar keratoderma; and very common findings: Thickened, rough skin (hyperkeratosis), Recurrent skin infections, Diffuse palmoplantar hyperkeratosis, and Dry, scaly skin (ichthyosis). 15 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	10	Fragile skin, Abnormal blistering of the skin, Scaling skin

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

KRT1 encodes keratin 1 (644 aa). May regulate the activity of kinases such as PKC and SRC via binding to integrin beta-1 (ITB1) and the receptor of activated protein C kinase 1 (RACK1). Highest expression in Skin Not Sun Exposed Suprapubic (15,626 TPM) and Skin Sun Exposed Lower leg (14,326 TPM).

Ichthyosis hystrix of Curth-Macklin is associated with mutations in the KRT1 gene on chromosome 12.

KRT1 is classified as a druggable target (Kinase category) with score 0.0.

Diagnosis

Genetic testing for KRT1 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for ichthyosis hystrix of Curth-Macklin has been reported in the published literature.

Prognosis

Phenotype severity distribution: 3 always present features, 4 very common features, 3 common features.

Estimated prevalence: <1 in 1,000,000 (VERY_RARE).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

No clinical trials have been registered for ichthyosis hystrix of Curth-Macklin.

2 publications have been identified in PubMed for ichthyosis hystrix of Curth-Macklin. Research spans Diagnostic / Biomarker (50%) and Review / Meta-Analysis (50%).

Recent Publications

Süßmuth K (2026). [PMID: 41892076](https://pubmed.ncbi.nlm.nih.gov/41892076/). *Dermatopathology (Basel)*. [Diagnostic / Biomarker]
Xiang R (2025). [PMID: 40709761](https://pubmed.ncbi.nlm.nih.gov/40709761/). *Acta Derm Venereol*. [Review / Meta-Analysis]

Data assembled from 6 of 12 sources · Last updated Sep 20, 2026, 1:48 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146590

Orphanet

European rare disease database

Orphanet:79503

GARD

Genetic and Rare Diseases Info Center

GARD:2954

Questions for Your Care Team

→Should I pursue genetic testing for KRT1, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

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ichthyosis hystrix of Curth-Macklin

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

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