phakomatosis pigmentokeratotica
MONDO:0017317Mondo
Findings
No curated finding names phakomatosis pigmentokeratotica yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
Phakomatosis pigmentokeratotica (PPK) is a very rare epidermal nevus disorder characterized by the association of speckled lentiginous nevi with epidermal sebaceous nevi, and extracutaneous anomalies.
Definition from the Mondo Disease Ontology (MONDO:0017317), read 2026-09-29. CC BY 4.0.
Features
32 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.
- Linear nevus sebaceousHPOHP:0010817
- Very frequent (80% to 99% of cases)
- Nevus spilusHPOHP:0025510
- Very frequent (80% to 99% of cases)
- ScoliosisHPOHP:0002650
- Frequent (30% to 79% of cases)
- Basal cell carcinomaHPOHP:0002671
- Occasional (5% to 29% of cases)
- HemiatrophyHPOHP:0100556
- Occasional (5% to 29% of cases)
- Hypophosphatemic ricketsHPOHP:0004912
- Occasional (5% to 29% of cases)
- Melanocytic nevusHPOHP:0000995
- Occasional (5% to 29% of cases)
- Neurodevelopmental delayHPOHP:0012758
- Occasional (5% to 29% of cases)
- RhabdomyosarcomaHPOHP:0002859
- Occasional (5% to 29% of cases)
- Arachnoid cystHPOHP:0100702
- Very rare (1% to 4% of cases)
- ArrhythmiaHPOHP:0011675
- Very rare (1% to 4% of cases)
- Blue nevusHPOHP:0100814
- Very rare (1% to 4% of cases)
Show the remaining 20
- ColobomaHPOHP:0000589
- Very rare (1% to 4% of cases)
- CryptorchidismHPOHP:0000028
- Very rare (1% to 4% of cases)
- Cutaneous melanomaHPOHP:0012056
- Very rare (1% to 4% of cases)
- GlaucomaHPOHP:0000501
- Very rare (1% to 4% of cases)
- HemangiomaHPOHP:0001028
- Very rare (1% to 4% of cases)
- HemihypertrophyHPOHP:0001528
- Very rare (1% to 4% of cases)