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
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
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