Labrador Retriever — Epidermolytic hyperkeratosis; epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)

--- license: permission_granted topic_id: companion_breed_health_labrador_retriever_epidermolytic_hyperkeratosis_epidermolytic_ichthyosis_dog category: companion-breed-health title: "Labrador Retriever — Epidermolytic hyperkeratosis; epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)" lang: en source: "OMIA (Online Mendelian Inheritance in Animals, University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; C1 substring-verified. Pulled 2026-08-02 from local OMIA database dump." source_file: pdf-raw/breed-health/labrador_retriever_epidermolytic_hyperkeratosis_epidermolytic_ichthyosis_2787.txt date_parsed: 2026-08-02 tokens_estimated: 292 verification: method: substring_match claims: 7 passed: 7 date: 2026-08-02 recovered: false path: companion-breed-health/companion_breed_health_labrador_retriever_epidermolytic_hyperkeratosis_epidermolytic_ichthyosis_dog/01_companion_breed_health_labrador_retriever_epidermolytic_hyperkeratosis_epidermolytic_ichthyosis_dog.md source_document: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" citation: authority: "OMIA — Online Mendelian Inheritance in Animals (University of Sydney)" title: "Labrador Retriever — Epidermolytic hyperkeratosis; epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)" url: "https://omia.org/OMIA001415/9615/" retrieved: "2026-08-02" ref: "OMIA breed-specific hereditary-disorder records (omia.org), derived from local OMIA database dump; dataset: https://doi.org/10.25910/2AMR-PV70" doc_type: "academic animal-genetics database (breed-specific disorder entries)" needs_review: false

Labrador Retriever — Epidermolytic hyperkeratosis; epidermolytic ichthyosis (hereditary; OMIA-verified breed predisposition)

Source: first-hand OMIA (University of Sydney) breed-specific hereditary-disorder record, saved verbatim to source_file; every claim below is a C1 byte-substring of it.

Claims

• Breed: Labrador Retriever (Dog)
• Disorder: Epidermolytic hyperkeratosis; epidermolytic ichthyosis
• Mode of inheritance: Autosomal
• Summary: This disorder is a form of ichthyosis.
• Clin feat: Adult [Norfolk Terrier] dogs with the disease had generalized, pigmented hyperkeratosis with epidermal fragility. (Credille et al., 2005) Kiener et al. (2023) investigated an 11-month-old male Chihuahua ... with severe skin lesions gradually progressing from 5 months of age. Clinical examination revealed severe, multifocal hyperkeratosis, mainly affecting paw pads, axillas and the skin around the anus, lips and eyes ... .
• Defect: yes
• Pathology: Light microscopic examination defined epidermolysis with hyperkeratosis; ultrastructural changes included a decrease in tonofilaments and abnormal filament aggregation in upper spinous and granular layer keratinocytes. (Credille et al., 2005) Kiener et al. (2023) reported marked epidermal hyperplasia and orthokeratotic hyperkeratosis with hypergranulosis, forming papillary projections on the skin surface in skin biopsies of an affected Chihuahua.

Associated gene(s)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• Gene: CK-10 (Entrez Gene ID 26593276) — OMIA Phene_Gene / GeneSynonym
• OMIA molecular-genetics note: By cloning and sequencing a very likely comparative candidate gene (based on the homologous human disorder), Credille et al. (2005) documented the molecular basis of this disorder in a family of Norfolk terrier dogs: "Affected dogs were homozygous for a single base GT&gt;TT change in the consensus donor splice site of intron 5 in [the gene for keratin 10] KRT10. . . . . The mutation caused activat…

Evidence (references)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• 2005. Mild recessive epidermolytic hyperkeratosis associated with a novel keratin 10 donor splice-site mutation in a family of Norfolk terrier dogs. Br J Dermatol — PubMed:PMID16029326 | DOI:10.1111/j.1365-2133.2005.06735.x — OMIA Phene_Article / Article
• 2000. Epidermolytic ichthyosis in a dog: clinical, histopathological, immunohistochemical and ultrastructural findings. J Comp Pathol — PubMed:PMID10805985 | DOI:10.1053/jcpa.1999.0371 — OMIA Phene_Article / Article
• 2004. A heritable keratinization defect of the superficial epidermis in Norfolk terriers. J Comp Pathol — PubMed:PMID15053927 | DOI:10.1016/j.jcpa.2003.11.003 — OMIA Phene_Article / Article
• 2005. Preservation of phenotype in an organotypic cell culture model of a recessive keratinization defect of Norfolk terrier dogs. Exp Dermatol — PubMed:PMID15946235 | DOI:10.1111/j.0906-6705.2005.00306.x — OMIA Phene_Article / Article
• 2022. Genetics of inherited skin disorders in dogs. Vet J — PubMed:PMID34861369 | DOI:10.1016/j.tvjl.2021.105782 — OMIA Phene_Article / Article
• 2022. Inheritance of monogenic hereditary skin disease and related canine breeds. Vet Sci — PubMed:PMID36006348 | DOI:10.3390/vetsci9080433 — OMIA Phene_Article / Article
• 2023. Heterozygous KRT10 missense variant in a Chihuahua with severe epidermolytic ichthyosis. Anim Genet — PubMed:PMID37332248 | DOI:10.1111/age.13341 — OMIA Phene_Article / Article
• 2023. Genome sequencing of 2000 canids by the Dog10K consortium advances the understanding of demography, genome function and architecture. Genome Biol — PubMed:PMID37582787 | DOI:10.1186/s13059-023-03023-7 — OMIA Phene_Article / Article
• 2021. Ichthyosis in dogs—Congenital dermatologic disorder. Folia Veterinaria — DOI:doi.org/10.2478/fv-2021-0024 — OMIA Phene_Article / Article
• 2026. Development of cost-effective PCR-RFLP methods for screening Mendelian disorders in Chihuahua dogs. F.U. Vet. J. Health Sci. — OMIA Phene_Article / Article

Comparative medicine (human OMIM)

Derived from OMIA database dump (omia.xml, local); structured field, not verbatim prose. First-hand values below are verbatim substrings of the topic's pdf-raw/omia/<phene_id>.txt source file.

• OMIM:113800 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:609165 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:607602 (type: trait) — OMIA Group_OMIM (via OMIA_ID)
• OMIM:148080 (type: gene) — OMIA Group_OMIM (via OMIA_ID)

verification_derived: method: derived_from_dataset source: "OMIA database dump (omia.xml, local); fields Gene/Variant/Article/OMIM" note: "Structured fields (gene, variant rsID/protein change, PubMed/DOI references, OMIM cross-link) extracted from OMIA dump and presented with first-hand values; not verbatim prose."