autosomal recessive congenital ichthyosis 1

ORPHA: 100976

Contents

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

Overview

autosomal recessive congenital ichthyosis characterized by lamellar ichthyosis, ectropion, eclabium and hyperkeratosis that has material basis in homozygous or compound heterozygous mutation in the TGM1 gene on chromosome 14q11.2

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 autosomal recessive congenital ichthyosis 1, sourced from HPO and Orphanet clinical annotations.

Thickened skinIchthyosisEpidermal acanthosisScaling skinEctropionErythrodermaParakeratosisAutoamputation of digitsCongenital nonbullous ichthyosiform erythrodermaImpaired temperature sensationEclabionHypohidrosisPalmoplantar hyperkeratosisAlopeciaMultiple joint contracturesSparse hairNail dystrophy

Classification & Codes

Orphanet Code

ORPHA:100976

autosomal recessive congenital ichthyosis 1

Orphanet	`ORPHA:100976`
Treatments	0 drug(s)
Symptoms on record	17 signs
Status	published

Factual Authority

Last Updated3/20/2026

Clinical DataHPO · Orphanet

Drug DataFDA · EMA · CDSCO