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ichthyosis histrix, Lambert type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

ichthyosis histrix, Lambert type

MONDO:0007809

Also known as:ichthyosis hystrix graviorichthyosis, Lambert typeLambert type ichthyosis

Overview

GeneticsAutosomal dominant · KRT10 (chr 17)

Patient Orgs1 organizations · LAM Foundation

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: Orthokeratotic hyperkeratosis and Thickened, rough skin (hyperkeratosis). 3 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Abnormal blistering of the skin, Orthokeratotic hyperkeratosis, Thickened, rough skin (hyperkeratosis)

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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.

KRT10 encodes keratin 10 (584 aa). Plays a role in the establishment of the epidermal barrier on plantar skin. Involved in the maintenance of cell layer development and keratin filament bundles in suprabasal cells of the epithelium Highest expression in Skin Sun Exposed Lower leg (24,040 TPM) and Skin Not Sun Exposed Suprapubic (20,397 TPM).

Ichthyosis histrix, Lambert type is associated with mutations in the KRT10 gene on chromosome 17.

The KRT10 protein participates in Keratinocyte of spinosum layer differentiates into keratinocyte of granulosum layer in interfollicular epidermis, Transit-amplifying cell of basal layer differentiates into keratinocyte of spinosum layer in interfollicular epidermis, and Keratinocyte of granulosum layer differentiates into corneocyte of corneum layer in interfollicular epidermis pathways.

KRT10 is classified as a druggable target (Cell Surface category) with score 11.6.

Diagnosis

Genetic testing for KRT10 is available. Testing is considered confirmatory for diagnosis.

Prognosis

Phenotype severity distribution: 2 always present features.

Data assembled from 5 of 12 sources · Last updated Sep 19, 2026, 3:29 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Patient Support

Patient Advocacy Groups

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LAM FoundationPrimary Focus

USWebsite ↗

Patient Advocacy Groups (PAGs) provide support, resources, and community for patients and caregivers.

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Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:146600

Orphanet

European rare disease database

Orphanet:79504

GARD

Genetic and Rare Diseases Info Center

GARD:9497

Questions for Your Care Team

→Should I pursue genetic testing for KRT10, and what would the results mean for my family?
→Are there specialists or centers of excellence for this condition in my area?
→How can I connect with LAM Foundation and other patient organizations for support?

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ichthyosis histrix, Lambert type

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Patient Support

Patient Advocacy Groups

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team