DENVER — With the higher prevalence of psoriasis, hidradenitis suppurativa (HS), alopecia areata (AA), and other skin conditions in people with Down syndrome (DS), dermatologists are vital members of these patients’ multidisciplinary care teams, according to an expert who spoke at the Society for Pediatric Dermatology (SPD) pre-AAD annual meeting.

Moreover, as the population of adults and children with DS grows, precision medicine provides promise for these skin conditions, Jillian Rork, MD, clinical assistant professor of dermatology and pediatrics at Dartmouth Health in Manchester, New Hampshire, said at the meeting.

HS

Compared with adults without DS, those with DS are five times more likely to develop HS, according to a study published in the British Journal of Dermatology in 2018. In a retrospective study of International Classification of Diseases - 10th Revision (ICD-10) codes and related health problems assigned by dermatologists, 24.3% and 28.9% of adolescents with DS, respectively, had HS and folliculitis.

People with DS often develop a unique HS phenotype, Rork noted. “Some individuals will start with more impressive folliculitis, especially on the thighs and buttocks, that with time will progress to larger inflammatory nodules and pustules, sometimes impacting the axilla and inframammary folds.”

Presently, said Rork, the Pediatric Dermatology Research Alliance (PeDRA) is working to better define the HS phenotype that appears in people with DS. The US and Canadian HS Foundations recommended annual screening for HS in individuals with DS, in an article on comorbidity screening in patients with HS. Although no specific age was mentioned, Rork, who is co-director of PeDRA’s Down syndrome subgroup, and colleagues often start screening at about ages 8-10 years old, given early onset in many patients. Screening involves examination of the axilla, inframammary folds, and buttocks, she said.

Online SPD handouts for healthcare providers and families offer guidance for identifying and managing folliculitis and HS in children with DS. Similar SPD handouts address skin care in children and adolescents with DS, including topics such as dry skin, perioral rashes, and syringomas.

For managing milder HS, Rork said that starting with a topical regimen can be effective. “My favorite topical regimen often includes benzoyl peroxide washes and a topical antibiotic.”

To improve compliance, she also recommended explaining to patients and families how different topicals feel. Patients should like the way medications feel and not find them uncomfortable, Rork explained. “Clindamycin 1% lotion is often preferred over solution because the latter can be more difficult to apply and can cause burning/stinging,” she said. “If patients prefer a solution, erythromycin 2% pledgets are a potential alternative.”

For people with DS who have more significant HS requiring systemic treatment, said Rork, special considerations apply. For example, individuals with DS have lower baseline blood pressure, according to a study published in 2020. Therefore, when using spironolactone to treat HS, Rork often starts at a lower dose, such as 25 mg or 50 mg once daily, and gradually increases. Spironolactone appears to be effective in female patients with HS and does not always require higher doses, she said.

Zinc gluconate can also be an effective treatment for HS, Rork said. Higher doses can cause gastrointestinal upset, so she often starts at lower doses such as 30 mg once daily and increases the dose as needed. Copper supplementation is recommended if a patient is on the medication for more than 3 months, she said.

“As HS is well known to significantly impact quality of life and mental health,” Rork added, “we need to consider these impacts on our patients with Down syndrome.” According to the Institute for Community Inclusion, depression can affect up to 1 in 5 people with DS, and Rork said that HS has the potential to exacerbate depression in these patients. Perhaps not surprisingly, in a small survey, Rork and her coauthors found that Dermatology Life Quality Index scores were between 22.5 and 27 (considered extremely high) among children and adults with DS and their caregivers. 

More broadly, Rork cautioned against assuming that people with DS cannot handle procedures. She reported that many of her patients with DS ask her why no one has discussed intralesional triamcinolone acetonide, laser hair removal, surgery, and biologics with them. “Sometimes we assume what people can and can’t handle,” said Rork, “and patients with DS deserve the full range of appropriate therapies.”

Psoriasis

In the 2024 review of ICD-10 codes mentioned above, 6.7% of the participants with DS had a psoriasis diagnosis. A more recent study on which Rork was lead author examined the 300-million-person Epic Cosmos database and found psoriasis prevalence rates of 0.8% and 3% in children and adults with DS, respectively.

Regarding treatment, the review of ICD-10 codes showed that 94% of people with DS and psoriasis received prescriptions for topical agents, with 60% of this group prescribed at least four topicals. “That’s a lot of lotions and potions,” said Rork.

Similarly, 33% of the patients with DS and psoriasis were receiving systemic therapies, most commonly adalimumab, with 40% of the systemic-therapy group having received at least two such agents. The foregoing figures, she said, raise questions regarding the efficacy of these treatments, whether they are mechanistically specific for people with DS, and, with the many comorbidities of DS, what side effects occur.

In a series of 21 patients with DS and severe psoriasis at three dermatology departments in Ireland, 90% had failed a TNF-alpha inhibitor; 81% required a switch to a second drug; and 63.6% experienced adequate response to ustekinimab. Additionally, three patients who did not respond to three biologics responded well to tofacitinib.

Jennifer Ruth, MD, told Medscape Dermatology that the high burden of dermatologic disease in individuals with DS likely stems from underlying immune dysregulation and increased interferon signaling. “On a mechanistic level,” she said, “JAK inhibitors are an exciting, emerging frontier for Down syndrome, as their ability to decrease interferon signaling may have therapeutic potential for both dermatologic conditions and broader immune modulation in this population.” Ruth, an assistant professor in the Department of Pediatrics and Internal medicine (Dermatology) at the University of Texas at Austin Dell Medical School, was not involved with the presentation but was asked to comment after the meeting. 

AA

Another study involving the Epic Cosmos database showed that people with DS are 15 times more likely than the general population to develop AA. In the same study, people with DS and AA had a 1.6-fold relative risk of developing thyroid disease. “Clinically,” said Rork, one of the study’s authors, “if you diagnose alopecia areata in somebody with Down syndrome, make sure that their thyroid studies are up to date.”

Moreover, AA appears earlier in people with DS. The 2024 review of ICD-10 codes showed an 11.6% prevalence and a mean age at diagnosis of 10.5 years. “But I believe — and I’m probably not alone — that it’s probably younger than that in many of our patients,” Rork said.

Other skin conditions more prevalent in people with DS include tinea pedis, onychomycosis, and seborrheic dermatitis, according to a 2021 article on which Rork was senior author. Because dermatologists are master diagnosticians, pathophysiologists, and behavioral scientists, she said, their expertise is vital in helping people with DS live long, healthy lives.

Rork and Ruth reported having no relevant financial relationships.

John Jesitus is a Denver-based freelance medical writer and editor.