pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
ORPHA: 436274
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 pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa, sourced from HPO and Orphanet clinical annotations.
Rod-cone dystrophyNyctalopiaCutis laxaStrabismusAbnormal optic nerve morphologyRedundant skinIncreased number of skin foldsAttenuation of retinal blood vesselsAbsent retinal pigment epitheliumPapuleAbnormal fundus morphology
Classification & Codes
Orphanet Code
ORPHA:436274pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
| Orphanet | ORPHA:436274 |
| Treatments | 0 drug(s) |
| Symptoms on record | 11 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO