epidermolytic hyperkeratosis

MeSH: D017488ORPHA: 312

Overview

rare and severe form of ichthyosis

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 epidermolytic hyperkeratosis, sourced from HPO and Orphanet clinical annotations.

HyperkeratosisErythrodermaWeight lossPoor appetiteCongenital bullous ichthyosiform erythrodermaIchthyosisAbnormal blistering of the skinCutaneous photosensitivityPalmoplantar keratodermaConjunctival hamartomaSkin ulcer

Classification & Codes

MeSH Code

D017488

Orphanet Code

ORPHA:312
epidermolytic hyperkeratosis
MeSHD017488
OrphanetORPHA:312
Treatments0 drug(s)
Symptoms on record11 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO