punctate palmoplantar keratoderma type 1
Findings
No curated finding names punctate palmoplantar keratoderma type 1 yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
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..
Definition from the Mondo Disease Ontology (MONDO:0019332), read 2026-09-29. CC BY 4.0.
Features
25 features
What the disease is reported to present with, and how often among people who have it — never how often a feature means the disease. HPO, annotations 2026-09-02.
- Abnormal epidermal morphologyHPOHP:0011124
- Very frequent (80% to 99% of cases)
- Hyperkeratotic papuleHPOHP:0045059
- Very frequent (80% to 99% of cases)
- Palmoplantar hyperkeratosisHPOHP:0000972
- Very frequent (80% to 99% of cases)
- Palmoplantar keratodermaHPOHP:0000982
- Very frequent (80% to 99% of cases)
- Epidermal acanthosisHPOHP:0025092
- Frequent (30% to 79% of cases)
- HypergranulosisHPOHP:0025114
- Frequent (30% to 79% of cases)
- OrthokeratosisHPOHP:0040162
- Frequent (30% to 79% of cases)
- Breast carcinomaHPOHP:0003002
- Occasional (5% to 29% of cases)
- Esophageal neoplasmHPOHP:0100751
- Occasional (5% to 29% of cases)
- MelanomaHPOHP:0002861
- Occasional (5% to 29% of cases)
- PainHPOHP:0012531
- Occasional (5% to 29% of cases)
- Verrucous papuleHPOHP:0012500
- Occasional (5% to 29% of cases)
Show the remaining 13
- Adenocarcinoma of the colonHPOHP:0040276
- Very rare (1% to 4% of cases)
- Adenocarcinoma of the small intestineHPOHP:0040274
- Very rare (1% to 4% of cases)
- Basal cell carcinomaHPOHP:0002671
- Very rare (1% to 4% of cases)
- Brain neoplasmHPOHP:0030692
- Very rare (1% to 4% of cases)
- Hodgkin lymphomaHPOHP:0012189
- Very rare (1% to 4% of cases)
- Nail dystrophyHPOHP:0008404
- Very rare (1% to 4% of cases)
Genes
2 genes
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
Where it sits
- A kind of
Other names
3 names
Resolves to: punctate palmoplantar keratoderma type 1
- Also called
- Buschke-Fischer-Brauer syndromekeratodermia palmoplantaris papulosa, Buschke-Fischer-Brauer typePPKP1