Research Evidence
Peer-reviewed studies linked via MeSH term "Erythrokeratodermia Variabilis" from the MEDLINE/PubMed database.
Sort:
Protean cutaneous manifestation caused by ABCA12 variants: erythrokeratodermia variabilis-like ichthyosis and unique palmoplantar keratoderma.
[object Object], [object Object], [object Object] et al. · Clin Exp Dermatol · 2025
PMID: 39497469Case Report
Adult-onset erythrokeratodermia variabilis (EKV) triggered by pregnancy and crash dieting: A rare case report.
[object Object], [object Object], [object Object] et al. · J Pak Med Assoc · 2024
PMID: 39279078Case Report
The genetic and molecular basis of a connexin-linked skin disease.
[object Object], [object Object] · Biochem J · 2024
The Complex and Critical Role of Glycine 12 (G12) in Beta-Connexins of Human Skin.
[object Object], [object Object], [object Object] · Int J Mol Sci · 2021
Gain-of-Function Mutations in TRPM4 Activation Gate Cause Progressive Symmetric Erythrokeratodermia.
[object Object], [object Object], [object Object] et al. · J Invest Dermatol · 2019
PMID: 30528822Review
Erythrokeratodermia variabilis et progressiva.
[object Object] · J Dermatol · 2016
PMID: 26945536Review
Connexins in epidermal homeostasis and skin disease.
[object Object], [object Object], [object Object] et al. · Biochim Biophys Acta · 2012
PMID: 21933662Review
Novel variants in ABCA12 cause erythrokeratodermia variabilis.
[object Object], [object Object], [object Object] et al. · Br J Dermatol · 2024
PMID: 38085035Other
Erythrokeratodermia Variabilis-like Phenotype in Patients CarryingMutations.
[object Object], [object Object], [object Object] et al. · Genes (Basel) · 2024
Skin disease-associated GJB4 variants differentially influence connexin stability, cell viability and channel function.
[object Object], [object Object], [object Object] et al. · J Physiol · 2025
PMID: 39817844Preclinical
Search all PubMed articles for Erythrokeratodermia variabilis
Research data from MEDLINE/PubMed
Signs & Symptoms
Based on Human Phenotype Ontology (HPO) disease-phenotype annotations.
Erythroderma
Always present (100%)HP:0001019
Generalised hyperkeratosis
Always present (100%)HP:0005595
Blister
Very frequent (80-99%)HP:0008066
Cutaneous photosensitivity
Very frequent (80-99%)HP:0000992
Decreased body height
Very frequent (80-99%)HP:0004322
Decreased size of cranium
Very frequent (80-99%)HP:0000252
Epidermal hyperkeratosis
Very frequent (80-99%)HP:0000962
Erythema
Very frequent (80-99%)HP:0010783
Flat, discolored area of skin
Very frequent (80-99%)HP:0012733
Hyperpigmented macules
Very frequent (80-99%)HP:0001034
Keratoderma
Very frequent (80-99%)HP:0000982
Skin plaque
Very frequent (80-99%)HP:0200035
Skin rash
Very frequent (80-99%)HP:0000988
Weight loss
Very frequent (80-99%)HP:0001824
Abnormality of the hair shaft
Frequent (30-79%)HP:0001595
Diabetes mellitus
Frequent (30-79%)HP:0000819
Dry skin
Frequent (30-79%)HP:0000958
Glaucoma
Frequent (30-79%)HP:0000501
Hair loss
Frequent (30-79%)HP:0001596
Irregular hyperpigmentation
Frequent (30-79%)HP:0007400
Lens opacities
Frequent (30-79%)HP:0000518
Patchy palmoplantar keratoderma
Frequent (30-79%)HP:0005588
Abnormality of cardiovascular system morphology
Occasional (5-29%)HP:0030680
Anomaly of the testes
Occasional (5-29%)HP:0000035
Brachydactyly
Occasional (5-29%)HP:0001156
Corneal opacity
Occasional (5-29%)HP:0007957
Generalized hirsutism
Occasional (5-29%)HP:0002230
Hearing impairment
Occasional (5-29%)HP:0000365
Low intelligence
Occasional (5-29%)HP:0001249
Nail disease
Occasional (5-29%)HP:0001597
Quick Facts
- SNOMED CT
- 70041004
- UMLS CUI
- C0265961
- Fully Specified Name
- Erythrokeratodermia variabilis (disorder)
- Specialists
- 0
- Diagnostic Biomarkers
- 0
- HPO Phenotypes
- 30
Medical Disclaimer
This information is for educational purposes only and does not constitute medical advice, diagnosis, or treatment. Always consult with a qualified healthcare provider regarding any medical condition or treatment plan.
Clinical content is derived from the SNOMED CT clinical ontology and curated medical knowledge graphs.