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loricrin keratoderma - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

loricrin keratoderma

MONDO:0011396

Also known as:Camisa diseaseVohwinkel syndrome with ichthyosiskeratoderma hereditarium mutilans with ichthyosis

Overview

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.

GeneticsAutosomal dominant · LORICRIN (chr 1)

ResearchLimited published research (6 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: Amniotic constriction ring; and very common findings: Palmoplantar hyperkeratosis, Generalized ichthyosis, and Digital constriction ring. 19 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	9	Honeycomb palmoplantar hyperkeratosis, Thickened, rough skin (hyperkeratosis), Palmoplantar hyperkeratosis

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.

LORICRIN encodes loricrin cornified envelope precursor protein (312 aa). Major keratinocyte cell envelope protein Highest expression in Skin Sun Exposed Lower leg (2,580 TPM) and Skin Not Sun Exposed Suprapubic (1,900 TPM).

Loricrin keratoderma is associated with mutations in the LORICRIN gene on chromosome 1.

The LORICRIN protein participates in Fillagrin and keratin intermediate filaments polymerize forming a network, Reinforcement of the Cornified Envelope, and Keratinocyte of spinosum layer differentiates into keratinocyte of granulosum layer in interfollicular epidermis pathways.

LORICRIN is classified as a druggable target with score 0.0.

Diagnosis

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

Prognosis

Phenotype severity distribution: 1 always present feature, 3 very common features, 8 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 loricrin keratoderma.

6 publications have been identified in PubMed for loricrin keratoderma. Research spans Other (50%), Review / Meta-Analysis (17%), and Case Report / Case Series (17%).

Recent Publications

Bhalla D (2026). [PMID: 41912209](https://pubmed.ncbi.nlm.nih.gov/41912209/). *Dermatol Pract Concept*. [Other]
Saleh D (2026). [PMID: 30335335](https://pubmed.ncbi.nlm.nih.gov/30335335/). *Unknown Journal*. [Case Report / Case Series]
Muna B (2025). [PMID: 39361864](https://pubmed.ncbi.nlm.nih.gov/39361864/). *Indian J Dermatol Venereol Leprol*. [Other]
Maki T (2025). [PMID: 40105269](https://pubmed.ncbi.nlm.nih.gov/40105269/). *J Dermatol*. [Other]
Yavas C (2025). [PMID: 41307748](https://pubmed.ncbi.nlm.nih.gov/41307748/). *Mol Biol Rep*. [Review / Meta-Analysis]
Gram SB (2025). [PMID: 39630431](https://pubmed.ncbi.nlm.nih.gov/39630431/). *JAMA Dermatol*. [Clinical Trial Publication]

Data assembled from 6 of 12 sources · Last updated Sep 18, 2026, 6:24 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:604117

Orphanet

European rare disease database

Orphanet:79395

GARD

Genetic and Rare Diseases Info Center

GARD:16719

Questions for Your Care Team

→Should I pursue genetic testing for LORICRIN, 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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loricrin keratoderma

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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