A Real-Life, Multicenter, Retrospective Study on Epidemiological and Clinical Features of Patients With Hidradenitis Suppurativa and Concomitant Down Syndrome.

BACKGROUNDHidradenitis suppurativa (HS) is an autoinflammatory skin disorder, often associated with Down syndrome (DS), with a prevalence ranging from 2.1% to 3.02%.

OBJECTIVESOur aim was to describe the epidemiological and clinical features of patients with HS and concomitant DS in a relevant Italian cohort.

METHODSWe conducted a real-life, multicentre, retrospective, and descriptive analysis of 70 HS-DS patients with 2-year follow-up.

RESULTSSeventy Caucasian adult patients (31 males and 39 females) affected by HS and DS were enrolled, with a mean age at baseline of 23.9 years. Mean body mass index (BMI) was 27.5 with obesity found in 20.9% of patients. Mean age at HS onset was 15.2, while at diagnosis was 18.6 with a diagnostic delay of 3.4 years. The groin was the most frequently involved site at HS onset and diagnosis, while the most common HS phenotype was the follicular one. At HS diagnosis, Hurley stage II was the most frequent with a median value of the International Hidradenitis Suppurativa Severity Score (IHS4) of 6 (moderate HS) while the most common therapy prescribed was systemic antibiotics, followed by topical treatments. Over follow-up, treatment patterns changed and IHS4, Dermatology Life Quality Index (DLQI) and pain numeric rating scale (NRS pain) scores decreased.

CONCLUSIONSOur patient cohort is characterized by female predominance, high BMI, early HS onset, predominance of follicular phenotype, and moderate disease severity. Given the recognized association between these two conditions, we recommend regular screening by pediatricians and dermatologists for early detection and management of HS in DS patients. Future comparative studies are needed to clarify which features may be specifically associated with HS and concomitant DS.

Abstract from PubMed