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punctate palmoplantar keratoderma type 1 - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

punctate palmoplantar keratoderma type 1

MONDO:0019332

Also known as:Buschke-Fischer-Brauer syndromePPKP1keratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer type

Overview

Punctate palmoplantar keratoderma type I (PPKP1), also known as Buschke-Fischer-Brauer syndrome, is a very rare hereditary skin disease characterized by irregularly distributed epidermal hyperkeratosis of the palms and soles with wide variation among patients..

ResearchLimited published research (3 articles)

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 very common findings: Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Abnormal epidermal morphology, and Hyperkeratotic papule; and common findings: Epidermal acanthosis, Hypergranulosis, and Orthokeratosis. 25 total HPO annotations.

Organ System	Phenotype Count	Example Features
Skin	5	Palmoplantar hyperkeratosis, Palmoplantar keratoderma, Hyperkeratotic papule

Prognosis

Phenotype severity distribution: 4 very common features, 3 common features.

Estimated prevalence: 1-9 in 100,000 (Uncommon).

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 punctate palmoplantar keratoderma type 1.

3 publications have been identified in PubMed for punctate palmoplantar keratoderma type 1. Research spans Case Report / Case Series (67%) and Basic Science / Preclinical (33%).

Recent Publications

Mastrangelo M (2025). [PMID: 40492104](https://pubmed.ncbi.nlm.nih.gov/40492104/). *JAAD Case Rep*. [Case Report / Case Series]
Gram SB (2025). [PMID: 39630431](https://pubmed.ncbi.nlm.nih.gov/39630431/). *JAMA Dermatol*. [Case Report / Case Series]
Wan C (2024). [PMID: 39145939](https://pubmed.ncbi.nlm.nih.gov/39145939/). *Proc Natl Acad Sci U S A*. [Basic Science / Preclinical]

Data assembled from 4 of 12 sources · Last updated Sep 19, 2026, 11:54 AM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

Orphanet

European rare disease database

Orphanet:79501

GARD

Genetic and Rare Diseases Info Center

GARD:3103

Questions for Your Care Team

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punctate palmoplantar keratoderma type 1

Overview

Clinical Presentation

Prognosis

Research Landscape

Recent Publications

Medical References

External Resources

Orphanet

GARD

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Questions for Your Care Team

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