Rare Disease

Abeona's pz-cel has been granted a April 29, 2025, PDUFA date.

The nonsteroid 1% cream treatment demonstrated good response and tolerability in patients with PPP.

A new method using 2 single-guide RNA/Cas9 tools to target 3 specific COL7A1 gene segments with harmful mutations successfully removed up to 95% of those segments.

Researchers conducted an assessment of the Nationwide Emergency Department Sample to analyze frequency of visits attributed to young patients with DEB.

A systematic review of 31 studies found that patients with EBA responded well to rituximab with few adverse effects.

Oleogel-10 exhibited potential to alleviate the physical, emotional, and economic strain of dressing changes, according to a poster presented at the SPD's annual meeting.

The international study represents the most comprehensive analysis of Southeast Asian patients with CI to date and provides a detailed look into specific CI subtypes.

A recent study found the use of CO2 lasers significantly improved patient quality of life and disease symptoms in the long-term.

A recent study spotlights an opportunity for interdisciplinary collaboration between dermatologists and orthodontists.

Patients who responded to imsidolimab in GEMINI-1 and who moved into GEMINI-2 maintained clear or almost clear skin.

Chinese clinical researchers recently presented a unique case of JLIS manifesting as erythematous papules and infiltrative plaques on the nose and upper jaw, resembling rosacea.

The CRL indicates that the timing proposed for data submission would not allow enough time for the FDA to complete its review by the May 25 PDUFA date.

Explore recent research that shed light on potential associations and manifestations post-COVID-19 infection or vaccination.

Joseph Zabinski, PhD, MEM, of OM1, shares insights at AAD into how artificial intelligence can mature and be a positive tool for disease detection.

The congenital ichthyosis session the 2024 AAD Annual Meeting covered real-world patient cases and treatments on the horizon.

Christopher Bunick, MD, PhD, provides tips for the general dermatologist to treat ichthyosis and shares data on TMB-001 in development for ichthyosis.

Click here to answer our poll on rare dermatologic diseases.

Today is Rare Disease Day. Here's a look back at news related to rare skin conditions over the past year.

This Rare Disease Day, Joseph Zabinski, PhD, MEM, of OM1, discusses the role of artificial intelligence in helping to detect rare dermatologic diseases.

This Rare Disease Day, Stefan Weiss, MD, MBA, FAAD, of OM1, shares his expertise in AI’s capabilities in dermatology.

Officials recently reported the first known fatality from the virus. Here's what health professionals say to watch for.

From the February cover: Joseph Zabinski, PhD, MEM, and Stefan Weiss, MD, MBA, FAAD, share their expertise into AI’s capabilities in dermatology and specifically, rare diseases such as generalized pustular psoriasis.

Krystal Biotech’s B-VEC was administered as an eyedrop for a patient with dystrophic epidermolysis bullosa with cicatrizing conjunctivitis.

Factors such as nutritional compromise, low levels of vitamin D, and more, negatively affect bone metabolism in this patient population.

J3401 went into effect on January 1, 2024.

Chiesi Global Rare Diseases recently announced the approval of the topical treatment.

With greater understanding of this rare pathology and its signs and symptoms, review authors believe this understanding could prompt early and necessary intervention.

The FDA’s PDUFA target date is May 25, 2024.

There are currently no FDA-approved therapies for the rare, genetic disease.

The PC Project provides patients with access to the International PC Research Registry for clinical help with their rare and painful skin condition.