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Phakomatosis pigmentovascularis

ORPHA: 2875

Contents

  1. 1. Overview
  2. 2. Available Treatments
  3. 3. Clinical Presentation
  4. 4. Classification & Codes

Overview

human disease

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 pigmentovascularis, sourced from HPO and Orphanet clinical annotations.

Facial asymmetryGlaucomaBlue scleraeNevus flammeusHypopigmented skin patchesSeizureCerebral cortical atrophyEEG abnormalityCerebral calcificationParesthesiaReduced bone mineral densityGeneralized hyperpigmentationArteriovenous malformationCognitive impairment

Classification & Codes

Orphanet Code

ORPHA:2875
Phakomatosis pigmentovascularis
OrphanetORPHA:2875
Treatments0 drug(s)
Symptoms on record14 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO