X-linked ichthyosis

MeSH: D016114ORPHA: 461

Overview

skin condition caused by the hereditary deficiency of the steroid sulfatase (STS) enzyme that affects 1 in 2000 to 1 in 6000 males

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 X-linked ichthyosis, sourced from HPO and Orphanet clinical annotations.

Dry skinHyperkeratosisHypohidrosisIchthyosisAttention deficit hyperactivity disorderOpacification of the corneal stromaCryptorchidismAutismMotor delayAbnormal speech patternDesquamation of skin soon after birthIntellectual disability

Classification & Codes

MeSH Code

D016114

Orphanet Code

ORPHA:461
X-linked ichthyosis
MeSHD016114
OrphanetORPHA:461
Treatments0 drug(s)
Symptoms on record12 signs
Statuspublished
Factual Authority
Last Updated3/20/2026
Clinical DataHPO · Orphanet
Drug DataFDA · EMA · CDSCO