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

BACKGROUND: Hidradenitis suppurativa (HS) is an autoinflammatory skin disorder, often associated with Down syndrome (DS), with a prevalence ranging from 2.1% to 3.02%. OBJECTIVES: Our aim was to describe the epidemiological and clinical features of patients with HS and concomitant DS in a relevant Italian cohort. METHODS: We conducted a real-life, multicentre, retrospective, and descriptive analysis of 70 HS-DS patients with 2-year follow-up. RESULTS: Seventy 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. CONCLUSIONS: Our 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.

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Publication Details

Journal
International Journal of Dermatology
Published
2026-07-16
DOI
https://doi.org/10.1111/ijd.70584
Primary Topic
Hidradenitis Suppurativa and Treatments
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article
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article

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

Carlo Alberto Maronese, Simone Ribero, Marco Manfredini, Stefano Buffon et al.
International Journal of Dermatology
Hidradenitis Suppurativa and Treatments
article

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

Carlo Alberto Maronese, Simone Ribero, Marco Manfredini, Stefano Buffon, Angelo Valerio Marzano, Federica Derlino, Cristina Magnoni, Luisa Sarno, Oriana Simonetti, Giovanni Genovese, Marina Venturini, Gianluca Avallone, Luca Fania, Valentina Dini, Elia Rosi, Federica Repetto, Alessandra Cartocci, Alessandra Michelucci, Federico Bardazzi, Chiara Moltrasio, Riccardo Balestri, Laura Atzori, Raffaele Dante Caposiena, Pietro Rubegni, Valeria Gaspari, Caterina Foti, Marco Romanelli, Elisa Molinelli, Francesca Prignano, Dalma Malvaso, Silvia Sanna, Iris Zalaudek, Paolo Gisondi, Viviana Lora, Giulia RECH
article en

Abstract

BACKGROUND: Hidradenitis suppurativa (HS) is an autoinflammatory skin disorder, often associated with Down syndrome (DS), with a prevalence ranging from 2.1% to 3.02%. OBJECTIVES: Our aim was to describe the epidemiological and clinical features of patients with HS and concomitant DS in a relevant Italian cohort. METHODS: We conducted a real-life, multicentre, retrospective, and descriptive analysis of 70 HS-DS patients with 2-year follow-up. RESULTS: Seventy 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. CONCLUSIONS: Our 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.

International Journal of Dermatology
University of Siena (IT), University of Pisa (IT), University of Verona (IT), University of Modena and Reggio Emilia (IT), Marche Polytechnic University (IT), University of Trieste (IT), Scuola Superiore Sant'Anna (IT), University of Cagliari (IT), University of Milan (IT), Agostino Gemelli University Polyclinic (IT), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT), IRCCS Azienda Ospedliero-Universitaria di Bologna Policlinico di Sant'Orsola (IT), Azienda Socio Sanitaria Territoriale degli Spedali Civili di Brescia (IT), Istituto Dermopatico dell'Immacolata (IT), San Gallicano Hospital (IT), Istituti di Ricovero e Cura a Carattere Scientifico (IT), Hidradenitis Suppurativa Foundation (US), Link Campus University (IT), University of Florence (IT), University of Turin (IT), University of Bari Aldo Moro (IT)
Good health and well-being
Openalex Percentile: Top 6%
Hidradenitis Suppurativa and Treatments
DOIOpen Access PDFOpenAlex
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