Phakomatosis pigmentokeratotica
MeSH: C537893ORPHA: 2874
Overview
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
Available Treatments (0)
No treatments linked yet
Clinical trials or compassionate use may be available — consult a specialist.
Clinical Presentation
Signs and symptoms associated with Phakomatosis pigmentokeratotica, sourced from HPO and Orphanet clinical annotations.
Linear nevus sebaceousNevus spilusScoliosisMelanocytic nevusBasal cell carcinomaRhabdomyosarcomaHypophosphatemic ricketsNeurodevelopmental delayHemiatrophyCryptorchidismGlaucomaColobomaPrecocious pubertyHyperhidrosisLymphedemaHemangiomaSeizureHemiparesisHyperreflexiaHemihypertrophyPatchy alopeciaSpina bifidaPheochromocytomaNephroblastomaArrhythmiaCutaneous melanomaUnilateral renal hypoplasiaRenal transitional cell carcinomaRaynaud phenomenonArachnoid cystBlue nevusHyperesthesia
Classification & Codes
MeSH Code
C537893Orphanet Code
ORPHA:2874Phakomatosis pigmentokeratotica
| MeSH | C537893 |
| Orphanet | ORPHA:2874 |
| Treatments | 0 drug(s) |
| Symptoms on record | 32 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO