erythrokeratodermia variabilis et progressiva 2
ORPHA: 317
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 erythrokeratodermia variabilis et progressiva 2, sourced from HPO and Orphanet clinical annotations.
MicrocephalyHyperkeratosisSkin rashCutaneous photosensitivityHypermelanotic maculeWeight lossShort statureAbnormal blistering of the skinErythemaMaculeGlaucomaCataractDiabetes mellitusDry skinAbnormal hair morphologyAlopeciaPatchy palmoplantar hyperkeratosisIrregular hyperpigmentationAbnormal testis morphologyHearing impairmentProtruding earBrachydactylyTapered fingerIntellectual disabilityAbnormal nail morphologyGeneralized hirsutismCorneal opacityNeoplasm of the skinAbnormal cardiovascular system morphology
Classification & Codes
Orphanet Code
ORPHA:317erythrokeratodermia variabilis et progressiva 2
| Orphanet | ORPHA:317 |
| Treatments | 0 drug(s) |
| Symptoms on record | 29 signs |
| Status | published |
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO