Dermatological

Lamellar Ichthyosis

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

ORPHA:313 ↗Gene TGM1Gene ABCA12Gene ALOX12B (multiple)Prevalence 1 in 200,000–300,000Onset CongenitalAutosomal recessive

0

studies recruiting now

as of 7 Sept 2026

8

studies registered in total

as of 7 Sept 2026

0

countries with a recruiting site

as of 7 Sept 2026

None

recruiting study posted to date

among recruiting studies

Recruiting trials

No recruiting trial found right now.

8 studies are registered for Lamellar Ichthyosis, but none was recruiting as of 7 Sept 2026. Here is what is still worth doing.

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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 surfaceCollodion membrane at birth that desiccates and sheds in the neonatal periodEctropion (outward turning of the eyelids) causing ocular exposure and irritationEclabium (lip eversion) leading to difficulty with feeding and oral hygieneAnhidrosis or severely reduced sweating causing heat intolerance and hyperthermiaAlopecia or scarring hair loss due to follicular plugging by scaleThickened palms and soles (palmoplantar keratoderma) with painful fissuring

From Orphanet’s phenotype annotations (CC BY 4.0). Not a complete list.

Treatments being studied

2 in clinical development, from Open Targets (CC BY 4.0). Not medical advice.

Phase 2/3Liarozole
Phase 2Trifarotene (Aklief)

Before you apply

Things trial teams commonly ask about for Lamellar Ichthyosis. Not eligibility rules; those are set by each study.

  • 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.

Related conditions

Information, not medical advice. Trial listings are shown as recorded on ClinicalTrials.gov; whether any study is right for you is a decision for you and your clinicians, and eligibility is decided by each research team. Disease information from Orphanet (CC BY 4.0).