A significant finding presented at Maui Derm 2026 has changed how dermatologists approach HS screening in a specific patient population: people with Down syndrome (trisomy 21). Research by Dr. Amit Garg and colleagues found that individuals with trisomy 21 are five times more likely to develop HS than the general population, and they tend to develop it earlier and more severely. The clinical recommendation is now to actively screen all Down syndrome patients for HS.
The Research Behind the Recommendation
The population-based cross-sectional analysis by Garg et al. examined the prevalence of HS among patients with Down syndrome compared to the general population. The five-fold increased risk is striking and clinically significant. The biological mechanisms linking trisomy 21 to HS are not fully understood, but the extra copy of chromosome 21 affects immune regulation and inflammatory signaling in ways that may predispose individuals to HS.
Why This Matters: The Diagnostic Challenge
HS is already significantly underdiagnosed in the general population, with an average diagnostic delay of 7 to 10 years. In people with Down syndrome, the diagnostic challenge is compounded by communication barriers that may make it harder for patients to describe their symptoms, and by the tendency of clinicians to attribute skin findings to other causes in this population.
Dr. Shi's framing at Maui Derm 2026 was particularly clear: "Traditionally, when you see an HS patient, you should screen them for PCOS or diabetes. But trisomy 21 is the only condition where you should reverse screen, meaning if you have a trisomy 21 patient sitting in front of you, you should screen them for HS, because you're five times more likely to have HS than the general public."
What Screening Looks Like
Screening for HS in Down syndrome patients involves a skin examination of the areas most commonly affected by HS: the axillae (armpits), groin, inner thighs, buttocks, and inframammary area. Caregivers and family members of people with Down syndrome should be educated about the signs of HS, including painful lumps, recurring boils, and scarring in these areas, so they can report symptoms to healthcare providers.
For Caregivers and Family Members
If you care for or support someone with Down syndrome, this information is important. Watch for signs of HS, including painful swellings, recurring skin infections, or scarring in the skin fold areas listed above. If you notice these signs, request a referral to a dermatologist with HS experience. Early diagnosis and treatment can prevent the progression to more severe disease and significantly improve quality of life.
The HS community has historically focused on adults with the condition, but the Down syndrome connection highlights the importance of vigilance across all patient populations. This is a reminder that HS can affect anyone, and that proactive screening in high-risk groups is essential.