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congenital erythropoietic porphyria

MeSH: D017092ORPHA: 79277

Contents

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

Overview

congenital 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 congenital erythropoietic porphyria, sourced from HPO and Orphanet clinical annotations.

Severe photosensitivityAbnormal blistering of the skinFragile skinRed-brown urineHemolytic anemiaCorneal ulcerationScarringErythrodontiaNonimmune hydrops fetalisThickened skinHyperpigmentation of the skinHypopigmentation of the skinFacial hypertrichosisIncreased fecal coproporphyrin 1ParesthesiaPruritusEdemaAnisocytosisPoikilocytosisReticulocytosisReduced haptoglobin levelUnconjugated hyperbilirubinemiaIncreased stool urobilinogen concentrationSplenomegalyDecreased total leukocyte countThrombocytopeniaAbnormal bleedingBlindnessScleritisSeborrhoeic blepharitisKeratoconjunctivitisEctropionOsteopeniaDecreased circulating vitamin D concentrationAbnormality of the amniotic fluidPurple urineSkin erosionRecurrent bacterial skin infectionsLoss of eyelashesScarring alopecia of scalpOsteolysisOsteoporosisErythroid hyperplasiaNeoplasm of the skinSquamous cell carcinomaIncreased erythrocyte protoporphyrin concentrationAbnormal circulating porphyrin concentrationIncreased urinary porphobilinogenPorphyrinuriaIncreased connective tissue

Classification & Codes

MeSH Code

D017092

Orphanet Code

ORPHA:79277
congenital erythropoietic porphyria
MeSHD017092
OrphanetORPHA:79277
Treatments0 drug(s)
Symptoms on record50 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO