Diagnosing and efficiently treating rare diseases in dermatology has long been an important challenge, and one session at the 2025 American Academy of Dermatology (AAD) Annual Meeting highlighted how artificial intelligence (AI) can help.
“Using Artificial Intelligence for Rare Dermatologic Diseases: Getting the Right Patients the Right Treatment at the Right Time” introduced the DataDerm registry, which involves a partnership between OM1 and the AAD and uses the dermatologist’s notes to estimate disease states, along with the digital phenotyping platform PhenOM and the Patient Finder program for identifying undiagnosed patients.
The technology can be applied to common conditions such as atopic dermatitis and alopecia areata. Perhaps more importantly, however, it can help recognize rare diseases such as generalized pustular psoriasis (GPP) and hidradenitis suppurativa (HS).
Marta Van Beek noted that the availability of the targeted therapeutic spesolimab for GPP makes early diagnosis of that condition even more critical. She noted that it is suspected that GPP is much more common than is known because of how frequently it is misdiagnosed.
“When patients have substantial delays [in getting treatment], there are significant effects on their health-related quality of life,” Dr. Van Beek said.
Similarly, Steven Daniel Daveluy, MD, FAAD, noted the impact of untreated HS on patients—including sleep quality, sexual dysfunction, work impairment, and depression. He said the mean time from onset of HS to the first consultation is 2.3 years, and 40% to 70% of patients present first to the general practitioner. Additionally, treatments with adalimumab and secukinumab are significantly more likely to be successful when started within certain windows of time.
“We have a lot of opportunities to improve care in HS,” Dr. Daveluy said.
Patient Finder utilizes key emergent signals such as abscesses and cysts, pain management, upper respiratory infections, and metabolic and lifestyle factors to identify patients who may have HS.
“If we can kind of paint a picture of the patient journey,” Dr. Daveluy said, “we can find those opportunities to intervene and get them diagnosed earlier.”