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hereditary palmoplantar keratoderma, Gamborg-Nielsen type - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

hereditary palmoplantar keratoderma, Gamborg-Nielsen type

MONDO:0009489

Also known as:PPK, Gamborg-Nielsen typehereditary palmoplantar hyperkeratosis, Gamborg-Nielsen typePPKNR

Overview

Hereditary palmoplantar keratoderma, Gamborg-Nielsen type is characterized by the presence of diffuse palmoplantar keratoderma without associated symptoms. The syndrome has been described in multiple families from the northernmost county of Sweden (Norrbotten). The palmoplantar keratoderma found in the Gamborg-Nielsen type disease is milder than that found in Mal de Meleda but more severe than that found in Thost-Unna palmoplantar keratoderma. Transmission is autosomal recessive.

Diagnosis

Biomarker and diagnostic research for hereditary palmoplantar keratoderma, Gamborg-Nielsen type has been reported in the published literature.

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 hereditary palmoplantar keratoderma, Gamborg-Nielsen type.

118 publications have been identified in PubMed for hereditary palmoplantar keratoderma, Gamborg-Nielsen type. Research spans Case Report / Case Series (42%), Review / Meta-Analysis (22%), and Basic Science / Preclinical (15%).

Research Type	Count	% of Total
Patient case studies	49	42%

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 4:39 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:244850

Orphanet

European rare disease database

Orphanet:86923

GARD

Genetic and Rare Diseases Info Center

GARD:16767

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hereditary palmoplantar keratoderma, Gamborg-Nielsen type

Overview

Diagnosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Recent Publications