Disease Directory Lamellar Ichthyosis
Dermatological

Lamellar Ichthyosis

Also known as: LI, non-bullous congenital ichthyosiform erythroderma, TGM1 ichthyosis

Prevalence

1 in 200,000–300,000

Onset

Congenital

Type

Autosomal recessive

Gene

TGM1, ABCA12, ALOX12B (multiple)

About Lamellar Ichthyosis

Lamellar ichthyosis is a rare autosomal recessive disorder of cornification characterised by widespread, plate-like scaling of the entire skin surface from birth. The condition results from mutations in genes encoding proteins essential for epidermal barrier formation and lipid transport, particularly TGM1, which encodes transglutaminase 1. Affected individuals are typically born encased in a collodion membrane that sheds to reveal persistent generalised scaling, thickened skin, and variable erythroderma throughout life.

Common Clinical Features

Generalised large, dark, plate-like scales covering the entire body surface Collodion membrane at birth that desiccates and sheds in the neonatal period Ectropion (outward turning of the eyelids) causing ocular exposure and irritation Eclabium (lip eversion) leading to difficulty with feeding and oral hygiene Anhidrosis or severely reduced sweating causing heat intolerance and hyperthermia Alopecia or scarring hair loss due to follicular plugging by scale Thickened palms and soles (palmoplantar keratoderma) with painful fissuring

Clinical Trial Eligibility Tips

What to know before applying to Lamellar Ichthyosis trials.

Trials often require confirmed genetic diagnosis via panel sequencing of ichthyosis genes (TGM1, ABCA12, ALOX12B, CYP4F22, NIPAL4) — obtain results before applying.

Wash-out periods for systemic retinoids (acitretin, isotretinoin) are typically 4–8 weeks; discontinue and document prior use as most trials exclude concurrent retinoid therapy.

Baseline assessments commonly include ISGA (Ichthyosis Severity Global Assessment) scoring and body surface area measurement — familiarise yourself with these scales to streamline screening visits.

Patient Resources

Patient Organization

Foundation for Ichthyosis & Related Skin Types

Visit website ↗

Natural History Registry

FIRST Patient Registry

Join registry ↗

Orphanet

European reference resource for rare diseases (ORPHA:313)

View on Orphanet ↗

NORD

National Organization for Rare Disorders

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Find recruiting Lamellar Ichthyosis trials

Search 500,000+ studies from ClinicalTrials.gov, filtered for Lamellar Ichthyosis. Updated daily.

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