OrphanDrug
OrphanDrug
Pharma Knowledge Base

pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa

ORPHA: 4362741 Treatment Available

Contents

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

Overview

human disease

Available Treatments (1)

DrugFormStatusCountriesLead Time
vitamin A (retinol)
oral capsule, 15000 IU; injection solutionFDA Approved57d

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:436274
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa
OrphanetORPHA:436274
Treatments1 drug(s)
Symptoms on record11 signs
Statuspublished

Treatment Summary

vitamin A (retinol)
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO
pseudoxanthoma elasticum-like skin manifestations with retinitis pigmentosa | OrphanDrug