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pachyonychia congenita 4 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

pachyonychia congenita 4

MONDO:0014325

Also known as:KRT6B pachyonychia congenitapachyonychia congenita caused by mutation in KRT6Bpachyonychia congenita type 4

Overview

Any pachyonychia congenita in which the cause of the disease is a mutation in the KRT6B gene.

GeneticsAutosomal dominant · KRT6B (chr 12)

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: Steatocystoma multiplex, Nail dystrophy, and Palmoplantar keratoderma.

Organ System	Phenotype Count	Example Features
Skin	2	Nail dystrophy, Palmoplantar keratoderma

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.

KRT6B encodes keratin 6B (564 aa). Highest expression in Esophagus Mucosa (748.2 TPM) and Skin Not Sun Exposed Suprapubic (187.7 TPM).

Pachyonychia congenita 4 is associated with mutations in the KRT6B gene on chromosome 12.

KRT6B is classified as a druggable target with score 0.0.

GeneReviews

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Clinical diagnostic criteria for pachyonychia congenita (PC) include the triad of toenail thickening, plantar keratoderma, and plantar pain, which are present in 97% of individuals with genetically confirmed PC by age ten years [International Pachyonychia Research Registry, ].

Suggestive Findings

Pachyonychia congenita (PC) should be suspected in individuals with the following clinical features and/or family history findings.

Clinical features

Source: GeneReviews —

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for pachyonychia congenita 4. The disease remains an area of unmet medical need.

GeneReviews

Management Guidelines

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with pachyonychia congenita, the following evaluations are recommended:

Thorough clinical examination to assess each affected area. These will vary based on the specific gene involved and may need to be repeated once genetic testing is completed in order to fully understand the phenotype of the affected individual.

Prognosis

GeneReviews

Surveillance Guidelines

In general, individuals with PC have no known associated systemic diseases or predispositions that require routine surveillance.

Source: GeneReviews — "Pachyonychia Congenita"

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 pachyonychia congenita 4.

13 publications have been identified in PubMed for pachyonychia congenita 4. Research spans Case Report / Case Series (46%), Review / Meta-Analysis (38%), and Other (8%).

Research Type	Count	% of Total
Patient case studies	6	46%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 6:57 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615728

GARD

Genetic and Rare Diseases Info Center

GARD:16006

Questions for Your Care Team

→Should I pursue genetic testing for KRT6B, 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?

← Back to All Diseases

Kisho

pachyonychia congenita 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Number evaluated for finding1

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications

pachyonychia congenita 4

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Surveillance Guidelines

Research Landscape

Medical References

External Resources

OMIM

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Number evaluated for finding1

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Clinical Guidance

Therapies Under Investigation

Clinical Trials

Recent Publications