Minimally Invasive Tape Strips Reveal Immune, Barrier Abnormalities Across Orphan Ichthyosis Subtypes

Pilot study finds shared Th17/Th22 upregulation and epidermal differentiation complex activation in Netherton syndrome, congenital ichthyosiform erythroderma, lamellar ichthyosis, and epidermolytic ichthyosis.

Apr. 16, 2026 at 5:39am

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A highly detailed, translucent X-ray-style photograph showing the intricate cellular structures and layers of human skin, conveying the scientific insights gained from the tape strip RNA sequencing analysis of orphan ichthyosis subtypes.Minimally invasive tape strips provide a window into the molecular underpinnings of rare ichthyosis skin disorders.Mount Sinai Today

A pilot study evaluating minimally invasive tape-strip RNA sequencing found shared upregulation of Th17/Th22 immune markers and increased cornified envelope/epidermal differentiation complex (EDC) gene expression across all orphan ichthyosis subtypes, including Netherton syndrome, congenital ichthyosiform erythroderma, lamellar ichthyosis, and epidermolytic ichthyosis.

Why it matters

This study highlighted the feasibility of using tape strips to measure the immune and barrier abnormalities in these rare ichthyosis conditions, which predominantly affect children and have heterogeneous treatment responses. The minimally invasive sampling method may enable longitudinal monitoring of disease changes with treatment in future clinical trials.

The details

Researchers collected tape strip RNA sequencing data from 27 patients with ichthyosis and 18 demographically matched healthy controls at Mount Sinai and Northwestern University. The cohort included 9 patients with Netherton syndrome, 6 with congenital ichthyosiform erythroderma, 7 with lamellar ichthyosis, and 5 with epidermolytic ichthyosis. RNA was extracted from 20 consecutive tape-strip samples per individual and analyzed using RNA-seq. All ichthyosis subtypes demonstrated significant upregulation of Th17-associated and Th22-associated markers, with Netherton syndrome showing unique Th2 dysregulation. Disease severity correlated with ceramide synthase 3, Th17 markers, and late cornified envelope genes.

  • The study was published online on April 9, 2026.

The players

Madeline Kim

MD, MS, Icahn School of Medicine at Mount Sinai, New York City, and lead author of the study.

Mount Sinai

A medical center in New York City where some of the study data was collected.

Northwestern University

A medical center in Chicago where some of the study data was collected.

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What they’re saying

“This study highlighted 'the feasibility of tape strips in measuring the immune and barrier abnormalities' in Netherton syndrome, congenital ichthyosiform erythroderma, lamellar ichthyosis, and epidermolytic ichthyosis, with 'significant dysregulation that correlated with disease severity metrics and were overall concordant with changes measured in biopsy studies.'”

— The authors

What’s next

Considering the 'minimally invasive nature of this sampling modality,' the authors noted that tape strips 'may be a valuable means of studying these ichthyoses, given the pediatric predominance of these cohorts, the heterogeneity in treatment responses in each subtype, and the potential to evaluate changes longitudinally with treatment in future clinical trials.'

The takeaway

This pilot study demonstrates the potential of using minimally invasive tape strips to gain insights into the molecular mechanisms underlying different orphan ichthyosis subtypes, which could lead to improved understanding of these rare skin disorders and inform the development of more targeted therapies.