Dupilumab, a Potential Novel Treatment for Hailey–Hailey Disease
<b>Background/Objectives:</b> Hailey–Hailey disease (HHD) is an uncommon genodermatosis with autosomal dominant inheritance caused by loss-of-function mutations in the ATP2C1 gene, which lead to disruption in keratinocyte adhesion and intraepidermal acantholysis. The chronic nature of th...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
MDPI AG
2025-02-01
|
| Series: | Clinics and Practice |
| Subjects: | |
| Online Access: | https://www.mdpi.com/2039-7283/15/3/48 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1850090227777929216 |
|---|---|
| author | Liliana Gabriela Popa Calin Giurcaneanu Florentina Zaharia Andreea Grigoras Alexandra Denisa Oprea Cristina Beiu |
| author_facet | Liliana Gabriela Popa Calin Giurcaneanu Florentina Zaharia Andreea Grigoras Alexandra Denisa Oprea Cristina Beiu |
| author_sort | Liliana Gabriela Popa |
| collection | DOAJ |
| description | <b>Background/Objectives:</b> Hailey–Hailey disease (HHD) is an uncommon genodermatosis with autosomal dominant inheritance caused by loss-of-function mutations in the ATP2C1 gene, which lead to disruption in keratinocyte adhesion and intraepidermal acantholysis. The chronic nature of the disease, its frequent recurrences and the lack of specific treatment pose real challenges in the long-term management of these patients. Recent studies have evaluated the effect of dupilumab, a human monoclonal antibody that blocks interleukin-4 and -13 receptor in refractory HHD, with very promising results. The aim of this study was to review the published data on the use of dupilumab for the treatment of HHD, to present our own experience in the field, and to discuss the mechanisms underlying dupilumab’s beneficial effects in HHD and the future treatment perspectives. <b>Methods:</b> A search of the medical literature on the use of dupilumab in the treatment of HHD was conducted. The terms “Hailey–Hailey disease”, “benign familial pemphigus”, “benign chronic pemphigus”, and “dupilumab” were searched across multiple databases (Medline, Chrocane Library, EMBASE) from inception until 30 September 2024. <b>Results:</b> To date, six manuscripts describing 11 refractory HHD cases treated with dupilumab have been published. All the patients experienced significant clinical improvement. The authors reported sustained disease quiescence in seven patients (64%), monitored for 5 to 24 months. None of the patients experienced adverse effects related to dupilumab. To the existing evidence, we add a new case of recalcitrant HHD successfully treated with dupilumab. <b>Conclusions:</b> Mounting evidence indicates dupilumab as a safe and efficient therapeutic alternative in patients with severe, refractory HHD. However, the long-term efficacy of dupilumab and the optimal therapeutic regimen for HHD are yet to be determined. |
| format | Article |
| id | doaj-art-8010f96cbbc446258d237eec156f77f5 |
| institution | DOAJ |
| issn | 2039-7283 |
| language | English |
| publishDate | 2025-02-01 |
| publisher | MDPI AG |
| record_format | Article |
| series | Clinics and Practice |
| spelling | doaj-art-8010f96cbbc446258d237eec156f77f52025-08-20T02:42:36ZengMDPI AGClinics and Practice2039-72832025-02-011534810.3390/clinpract15030048Dupilumab, a Potential Novel Treatment for Hailey–Hailey DiseaseLiliana Gabriela Popa0Calin Giurcaneanu1Florentina Zaharia2Andreea Grigoras3Alexandra Denisa Oprea4Cristina Beiu5Dermatology Department, Elias Emergency University Hospital, 17 Marasti Bd., District 1, 011461 Bucharest, RomaniaDermatology Department, Elias Emergency University Hospital, 17 Marasti Bd., District 1, 011461 Bucharest, RomaniaDermatology Department, CF 2 Clinical Hospital, 63 Marasti Bd., District 1, 011464 Bucharest, RomaniaDermatology Department, Elias Emergency University Hospital, 17 Marasti Bd., District 1, 011461 Bucharest, RomaniaDermatology Department, Elias Emergency University Hospital, 17 Marasti Bd., District 1, 011461 Bucharest, RomaniaDermatology Department, Elias Emergency University Hospital, 17 Marasti Bd., District 1, 011461 Bucharest, Romania<b>Background/Objectives:</b> Hailey–Hailey disease (HHD) is an uncommon genodermatosis with autosomal dominant inheritance caused by loss-of-function mutations in the ATP2C1 gene, which lead to disruption in keratinocyte adhesion and intraepidermal acantholysis. The chronic nature of the disease, its frequent recurrences and the lack of specific treatment pose real challenges in the long-term management of these patients. Recent studies have evaluated the effect of dupilumab, a human monoclonal antibody that blocks interleukin-4 and -13 receptor in refractory HHD, with very promising results. The aim of this study was to review the published data on the use of dupilumab for the treatment of HHD, to present our own experience in the field, and to discuss the mechanisms underlying dupilumab’s beneficial effects in HHD and the future treatment perspectives. <b>Methods:</b> A search of the medical literature on the use of dupilumab in the treatment of HHD was conducted. The terms “Hailey–Hailey disease”, “benign familial pemphigus”, “benign chronic pemphigus”, and “dupilumab” were searched across multiple databases (Medline, Chrocane Library, EMBASE) from inception until 30 September 2024. <b>Results:</b> To date, six manuscripts describing 11 refractory HHD cases treated with dupilumab have been published. All the patients experienced significant clinical improvement. The authors reported sustained disease quiescence in seven patients (64%), monitored for 5 to 24 months. None of the patients experienced adverse effects related to dupilumab. To the existing evidence, we add a new case of recalcitrant HHD successfully treated with dupilumab. <b>Conclusions:</b> Mounting evidence indicates dupilumab as a safe and efficient therapeutic alternative in patients with severe, refractory HHD. However, the long-term efficacy of dupilumab and the optimal therapeutic regimen for HHD are yet to be determined.https://www.mdpi.com/2039-7283/15/3/48Hailey–Hailey diseasebenign familial pemphigusbenign chronic pemphigusdupilumab |
| spellingShingle | Liliana Gabriela Popa Calin Giurcaneanu Florentina Zaharia Andreea Grigoras Alexandra Denisa Oprea Cristina Beiu Dupilumab, a Potential Novel Treatment for Hailey–Hailey Disease Clinics and Practice Hailey–Hailey disease benign familial pemphigus benign chronic pemphigus dupilumab |
| title | Dupilumab, a Potential Novel Treatment for Hailey–Hailey Disease |
| title_full | Dupilumab, a Potential Novel Treatment for Hailey–Hailey Disease |
| title_fullStr | Dupilumab, a Potential Novel Treatment for Hailey–Hailey Disease |
| title_full_unstemmed | Dupilumab, a Potential Novel Treatment for Hailey–Hailey Disease |
| title_short | Dupilumab, a Potential Novel Treatment for Hailey–Hailey Disease |
| title_sort | dupilumab a potential novel treatment for hailey hailey disease |
| topic | Hailey–Hailey disease benign familial pemphigus benign chronic pemphigus dupilumab |
| url | https://www.mdpi.com/2039-7283/15/3/48 |
| work_keys_str_mv | AT lilianagabrielapopa dupilumabapotentialnoveltreatmentforhaileyhaileydisease AT calingiurcaneanu dupilumabapotentialnoveltreatmentforhaileyhaileydisease AT florentinazaharia dupilumabapotentialnoveltreatmentforhaileyhaileydisease AT andreeagrigoras dupilumabapotentialnoveltreatmentforhaileyhaileydisease AT alexandradenisaoprea dupilumabapotentialnoveltreatmentforhaileyhaileydisease AT cristinabeiu dupilumabapotentialnoveltreatmentforhaileyhaileydisease |