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diffuse palmoplantar keratoderma - acrocyanosis syndrome - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

diffuse palmoplantar keratoderma - acrocyanosis syndrome

MONDO:0019489

Also known as:diffuse palmoplantar hyperkeratosis-acrocyanosis syndrome

Overview

Diffuse palmoplantar keratoderma-acrocyanosis syndrome is characterized by the association of diffuse palmoplantar keratoderma and acrocyanosis. It has been described in eight members of one family and in two sporadic cases. The mode of inheritance in the familial cases was autosomal dominant.

ResearchLimited published research (8 articles)

Prognosis

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 diffuse palmoplantar keratoderma - acrocyanosis syndrome.

8 publications have been identified in PubMed for diffuse palmoplantar keratoderma - acrocyanosis syndrome. Research spans Case Report / Case Series (75%), Review / Meta-Analysis (13%), and Basic Science / Preclinical (13%).

Recent Publications

Alibrahim L (2026). [PMID: 41755622](https://pubmed.ncbi.nlm.nih.gov/41755622/). *Dermatol Reports*. [Case Report / Case Series]
Chen B (2026). [PMID: 41889596](https://pubmed.ncbi.nlm.nih.gov/41889596/). *Int Med Case Rep J*. [Case Report / Case Series]
Demircioğlu D (2025). [PMID: 39850714](https://pubmed.ncbi.nlm.nih.gov/39850714/). *Dermatol Res Pract*. [Review / Meta-Analysis]
Premkumar L (2025). [PMID: 41613660](https://pubmed.ncbi.nlm.nih.gov/41613660/). *Cureus*. [Case Report / Case Series]
Khatoon F (2025). [PMID: 40330510](https://pubmed.ncbi.nlm.nih.gov/40330510/). *J Lasers Med Sci*. [Case Report / Case Series]

Data assembled from 3 of 12 sources · Last updated Sep 19, 2026, 3:00 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:86918

GARD

Genetic and Rare Diseases Info Center

GARD:19089

Questions for Your Care Team

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diffuse palmoplantar keratoderma - acrocyanosis syndrome

Overview

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team