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palmoplantar keratoderma, Nagashima type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

palmoplantar keratoderma, Nagashima type

MONDO:0014272

Also known as:PPK, Nagashima typepalmoplantar hyperkeratosis, Nagashima typePPKN

Overview

Keratosis, Nagashima-type is a transgressive and nonprogressive palmoplantar keratoderma resembling a mild form of mal de Meleda.

GeneticsAutosomal recessive · SERPINB7 (chr 18)

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: Palmoplantar hyperkeratosis; and very common findings: Palmoplantar hyperhidrosis. 6 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	3	Orthokeratotic hyperkeratosis, Palmoplantar hyperhidrosis, Palmoplantar hyperkeratosis

Explore clinical features

Genetic Landscape

SERPINB7 function has not been fully characterized.

Palmoplantar keratoderma, Nagashima type is associated with mutations in the SERPINB7 gene on chromosome 18.

Diagnosis

Genetic testing for SERPINB7 is available. Testing is considered confirmatory for diagnosis.

Biomarker and diagnostic research for palmoplantar keratoderma, Nagashima type has been reported in the published literature.

Prognosis

Phenotype severity distribution: 1 always present feature, 1 very common feature.

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 palmoplantar keratoderma, Nagashima type.

20 publications have been identified in PubMed for palmoplantar keratoderma, Nagashima type. Research spans Case Report / Case Series (30%), Other (25%), and Review / Meta-Analysis (10%).

Research Type	Count	% of Total
Patient case studies	6	30%

Data assembled from 6 of 12 sources · Last updated Sep 19, 2026, 4:29 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:615598

Orphanet

European rare disease database

Orphanet:140966

GARD

Genetic and Rare Diseases Info Center

GARD:16967

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→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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palmoplantar keratoderma, Nagashima type

Overview

Clinical Presentation

Explore clinical features

Genetic Landscape

Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

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Questions for Your Care Team

Questions for Your Care Team

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