Dowling-Degos disease
Findings
No curated finding names Dowling-Degos disease yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A pigmentation disease characterized by a reticulate pattern of abnormally dark skin coloring, particularly in the body's folds and creases.
Definition from the Mondo Disease Ontology (MONDO:0008371), 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.
- Progressive reticulate hyperpigmentationHPOHP:0007456
- Very frequent (80% to 99% of cases)
- Abnormality of the neckHPOHP:0000464
- Frequent (30% to 79% of cases)
- HyperkeratosisHPOHP:0000962
- Frequent (30% to 79% of cases)
- Inguinal frecklingHPOHP:0030052
- Frequent (30% to 79% of cases)
- Abnormal fingernail morphologyHPOHP:0001231
- Occasional (5% to 29% of cases)
- Abnormality of the handHPOHP:0001155
- Occasional (5% to 29% of cases)
- Acne inversaHPOHP:0040154
- Occasional (5% to 29% of cases)
- Digital pitting scarHPOHP:0031293
- Occasional (5% to 29% of cases)
- Erythematous papuleHPOHP:0030350
- Occasional (5% to 29% of cases)
- Heat intoleranceHPOHP:0002046
- Occasional (5% to 29% of cases)
- Hyperkeratotic papuleHPOHP:0045059
- Occasional (5% to 29% of cases)
- Hypermelanotic maculeHPOHP:0001034
- Occasional (5% to 29% of cases)
Show the remaining 13
- Hyperpigmented papuleHPOHP:0025473
- Occasional (5% to 29% of cases)
- Penile frecklingHPOHP:0031447
- Occasional (5% to 29% of cases)
- PruritusHPOHP:0000989
- Occasional (5% to 29% of cases)
- Scrotal hyperpigmentationHPOHP:0012855
- Occasional (5% to 29% of cases)
- Anal margin squamous cell carcinomaHPOHP:0030442
- Very rare (1% to 4% of cases)
- ArthritisHPOHP:0001369
- Very rare (1% to 4% of cases)
Genes
4 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.
- KRT5HGNC:6442
- Definitive · G2P · Autosomal dominant · 2018
- Supportive · Orphanet · Autosomal dominant · 2021
- POFUT1HGNC:14988
- Supportive · Orphanet · Autosomal dominant · 2021
- POGLUT1HGNC:22954
- Supportive · Orphanet · Autosomal dominant · 2021
- PSENENHGNC:30100
- Supportive · Orphanet · Autosomal dominant · 2021
Where it sits
Other names
2 names
Resolves to: Dowling-Degos disease
- Also called
- Dowling-Degos disease type 1reticular pigment anomaly of flexures