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Observational Study
. 2025 Jan 24;192(2):327-334.
doi: 10.1093/bjd/ljae420.

Biologics in congenital ichthyosis: are they effective?

Juliette Mazereeuw-Hautier  1 , Céline Granier Tournier  1 , Angela Hernandez-Martin, Sarah Milesi  1 , Hélène Texier  1 , Maëlla Severino-Freire  1 , Nathalia Bellon, Christine Bodemer, Robert Gruber, Emmanuel Mahé, Fanny Morice Picard, Katariina Hannula-Jouppi, Jenny E Murase, Sébastien Barbarot, Eran Cohen-Barak, Maurico Torres-Pradilla, Anna Bruckner, Moise Levy, Mark J A Koh, Marie Masson Regnault, Vanya Rossel, Christine Chiaverini, Lisa M Arkin, Hagen Ott, Cristina Has, Kira Süβmuth, Antoni Gostynski, Jason Shourick, Amy S Paller  2   3
Affiliations
Observational Study

Biologics in congenital ichthyosis: are they effective?

Juliette Mazereeuw-Hautier et al. Br J Dermatol. .

Abstract

Background: Congenital ichthyoses comprise a heterogeneous group of genetic diseases that require lifelong treatment and have a major impact on patients' quality of life. Conventional treatments reduce scaling and skin discomfort; however, they usually have little or no effect on erythema and pruritus. The identification of cytokine alterations in congenital ichthyoses has raised the possibility of repurposing currently available biologics. Several case reports have reported success with different biologics.

Objectives: To report the real-life effects of biologics on congenital ichthyoses.

Methods: This was a retrospective observational international multicentric study of patients with congenital ichthyoses treated with at least one biologic for a minimum of 3 months. The effect of the biologics was evaluated using an Investigator Global Assessment for change (IGA-C) scale. A comprehensive literature search was performed in parallel.

Results: Ninety-eight patients were included [mean (SD) age of 19.7 years, 50 female patients]. Patients with Netherton syndrome (NS) or congenital ichthyosiform erythroderma (CIE) represented the majority of patients (30% and 21%, respectively). Most patients (85%) had a severe or very severe form of congenital ichthyoses. The most frequently used biologics were inhibitors targeting interleukin (IL)-17, IL-12/IL-23 or the IL-4 receptor (IL-4R). The mean (SD) duration of treatment was 22.1 (20.1) months. There were 45 responders (46%), including 18 (18%) who were good responders; all had a subset of erythrodermic congenital ichthyoses and received one of the three main biologics. In patients with NS and CIE, IL-12/IL-23 and IL-4R inhibitors tended to be most effective. The literature review revealed a shorter mean (SD) duration of biologic treatment [11.5 (8.5) months] and higher percentage of responders (86%), suggesting reporter bias.

Conclusions: This series identified subsets of congenital ichthyoses that may respond to biologics and will help with the design of future clinical trials of biologics for congenital ichthyoses.

Plain language summary

Congenital ichthyoses is a group of genetic skin diseases. They need lifelong treatment and can greatly affect a person’s life. The available treatments often have limited effects. However, recent advances have suggested using a certain type of medication called ‘biologics’. These have been used for other skin diseases. We wanted to find out how biologics work in congenital ichthyoses. We gathered international data from patients with these diseases and treated with biologics for at least 3 months. We included the information of 98 patients, who were, on average, 20 years old. Most patients had Netherton syndrome or congenital ichthyosiform erythroderma (or ‘CIE’ for short). Most patients had a severe or very severe disease. On average, patients received biologics for 22 months. Altogether, 45 patients responded to treatment, including 18 who responded very well. These patients all had ‘erythrodermic congenital ichthyosiform’. They were treated with one of the three main biologics. In patients with Netherton syndrome or CIE, other biologics worked better. Our findings show which congenital ichthyoses may be more likely to respond to biologics. The results may help with the design of future clinical trials in these diseases.

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Conflict of interest statement

Conflicts of interest: For the last 5 years, J.M.-H. has been an investigator for companies relevant to ichthyosis and biologics: LEO Pharma, Lilly, Mayne, Sanofi and Timber Pharmaceuticals. A.H.-M. is a consultant for Sanofi but has no conflict of interest relevant to ichthyosis or biologics. C.B. is an investigator or speaker or consultant for Sanofi, Pfizer, Boehringer Ingelheim, Novartis and AbbVie. R.G. is speaker for AbbVie, Almirall, Lilly, L’Oréal and Sanofi. E.M. is an investigator or speaker or consultant for Sanofi, Biolane, Almirall, Pfizer and AbbVie. J.E.M. is a speaker bureau for Regeneron, Genzyme/Sanofi and UCB; is on advisory boards for Regeneron, Genzyme/Sanofi and Bristol Myers Squibb; and consults for AbbVie, UCB and UpToDate. S.B. is an investigator or speaker for AstraZeneca, Almirall, Sanofi-Genzyme, AbbVie, Galderma, Alexion, Novartis, Janssen, LEO Pharma, Pfizer, Eli Lilly and UCB Pharma. M.T.-P. has been a speaker for AbbVie, Chiesi, Sanofi, Pfizer and LEO Pharma. M.L. is investigator for Janssen and a consultant for Regeneron. M.J.A.K. has been an invited speaker for LEO Pharma, Galderma, GSK, Hyphens, Menarini, Ego, Bioderma, Good Pharma, Sanofi, Pfizer, DKSH, Zuellig, Novartis, AbbVie, Lion and L’Oréal/LaRoche Posay; and has received research grants from Galderma, Hyphens, Amryt, Eli Lilly, AbbVie, ASLAN, Bioderma and L’Oréal. L.M.A. has served as a consultant to Sanofi/Regeneron but has no other relevant disclosures related to ichthyosis. K.S. is medical advisor for Nia Health; has received funds for ‘Innovative Medical Research’ from the University of Münster Medical School, a clinician Scientist Program grant from ‘Deutsche Dermatologische Gesellschaft’ (DDG) and ‘Arbeitsgemeinschaft Dermatologische Forschung’ (ADF), and honoraria for presentations for Julius Zorn (Juzo) and Sanofi; and is member of the DDG, ADF and Arbeitsgemeinschaft Pädiatrische Dermatologie. A.S.P. is an investigator for Biomendics, Janssen, Regeneron and Timber/LEO; and a consultant for BioCryst, Boehringer Ingelheim, LEO and Regeneron/Sanofi relevant to ichthyosis. The other authors declare no conflicts of interest.

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