Rare Disease

Around 800 rare skin diseases affect 6.8 million people worldwide, including epidermolysis bullosa, generalized pustular psoriasis, ichthyosis, and erythropoietic protoporphyria.

Misha Rosenbach, MD, discussed the burden of cutaneous sarcoidosis (CS) and how emerging therapies like brepocitinib could fill this clinical need.

LILAC data shows litifilimab rapidly improves CLE skin scores, fueling AMETHYST phase 3 and supporting FDA breakthrough for cutaneous lupus patients.

Victoria Werth, MD, highlights CLE treatment gaps and how BDCA2-targeting litifilimab may quickly curb interferon-driven skin disease with less toxicity.

Phase 2 BEACON study shows brepocitinib rapidly clears cutaneous sarcoidosis lesions with strong CSAMI gains and tolerability, as Priovant readies phase 3 program.

The FDA’s decision was based on litifilimab’s phase 2 skin disease activity data.

Karen McGuire, PhD, discusses TolaSure, a groundbreaking therapy targeting epidermolysis bullosa simplex, focusing on cellular repair and blister reduction.

Bitopertin shows promise as a disease-modifying therapy for erythropoietic protoporphyria, significantly reducing PPIX levels and improving patient outcomes.

BioMendics is advancing TolaSure in the TAMES-02 trial for EBS, aiming for rapid market access and potential expansion to other keratinopathies.

Quoin Pharmaceuticals seeks Breakthrough Medicine Designation for QRX003, aiming to provide the first treatment for Netherton Syndrome in Saudi Arabia.

Karen McGuire, PhD, discusses innovative TolaSure for treating epidermolysis bullosa simplex, focusing on disease modification rather than symptom management.

Researchers explore CO₂ laser therapy's effectiveness for refractory HHD, revealing its potential to restore skin health and reduce inflammation.

The first treatment follows Zevaskyn’s FDA approval as the first autologous, gene-modified cellular sheet designed to address RDEB wounds.

Quoin Pharmaceuticals' QRX003 granted FDA Orphan Drug Designation, advancing treatment for Netherton Syndrome, a rare dermatological disease.

Selective JAK1 inhibition with upadacitinib may offer a fast-acting, steroid-sparing option for refractory lichen amyloidosis by interrupting IL-31–mediated itch and the itch–scratch cycle.

Spesolimab joins LEO Pharma’s dermatology portfolio to further expand spesolimab’s reach for patients worldwide with generalized pustular psoriasis.

Disc Medicine filed an NDA for bitopertin to treat erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) in patients ≥12 years.

Discover educational insights on blistering diseases and innovative treatments like dupilumab at the Maui Derm NP+PA Fall 2025 conference.

Discover expert insights on treating uncommon conditions like lichen planus, CSU, and polymorphous light eruption from Maui Derm NP+PA Fall 2025.

Krystal Biotech enhances B-VEC's label, empowering DEB patients with at-home treatment options and improving quality of life through innovative gene therapy.

A case report presents a unique case of Bowen's disease affecting the lower extremities in a 75-year-old woman, which was initially misdiagnosed as a fungal infection.

Karen McGuire, PhD, discusses TAMES-02, a clinical trial evaluating TolaSure for Epidermolysis Bullosa Simplex.

Orphan designation provides Soligenix with potential regulatory, financial, and exclusivity benefits as it develops SGX945.