Review: Emerging Therapies Expand Options for Patients With Genodermatoses

A new review published in the Journal of Drugs in Dermatology spotlighted recent advances in the diagnosis, classification, and treatment of several common genodermatoses, including epidermolysis bullosa (EB), neurofibromatosis type 1 (NF1), and filaggrin nonsyndromic epidermal differentiation disorder (FLG-nEDD; formerly known as ichthyosis vulgaris).

According to the authors, genodermatoses encompass more than 1,000 inherited disorders and are characterized by cutaneous manifestations that account for approximately 15% of all genetic diseases. These conditions, although rare, often carry substantial psychosocial and quality-of-life burdens.

New Treatments for Epidermolysis Bullosa 

Among the most notable developments is the evolving treatment landscape for EB. Historically managed with supportive wound care, several forms of EB now have disease-modifying therapeutic options. The review highlights three FDA-approved therapies introduced within the past three years, including beremagene geperpavec (B-VEC), the first topical gene therapy approved for any disease, birch triterpenes gel for wound management in dystrophic and junctional EB, and prademagene zamikeracel, the first autologous ex vivo gene-corrected cell therapy for recessive dystrophic EB. Clinical trial data demonstrated improvements in wound healing, pain reduction, and long-term disease control.

For NF1, investigators noted growing interest in targeted molecular therapies. While FDA-approved MEK inhibitors selumetinib and mirdametinib are available for symptomatic, inoperable plexiform neurofibromas, research is expanding into treatments for cutaneous neurofibromas. One investigational agent, topical MEK inhibitor NFX-179, demonstrated significant reductions in disease activity biomarkers and lesion volume in a phase 2a trial, potentially offering the first topical targeted therapy for cutaneous neurofibromas.

The review also highlighted a 2025 shift in nomenclature and classification for inherited ichthyoses. Under a newly proposed gene-based framework, ichthyosis vulgaris has been reclassified as FLG-nEDD, reflecting its underlying filaggrin gene mutations. While treatment remains largely supportive, emerging evidence linking Th2 cytokines to filaggrin suppression has generated interest in biologic therapies targeting IL-4 and IL-13 pathways.

“Recent advances have transformed the therapeutic landscape of several genodermatoses, especially EB and NF-1,” the authors wrote. “Together, these advances highlight a broader shift toward mechanism-based therapies that may significantly improve outcomes and QOL for patients with genodermatoses.”

Source

Farah M, et al. Journal of Drugs in Dermatology. 2026;25(7):0726.