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1.
Br J Dermatol ; 188(1): 52-63, 2023 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-36689500

RESUMO

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic inflammatory skin disorder with significant morbidity. The pathogenesis remains incompletely understood although immune dysregulation plays an important role. It is challenging to treat and approximately 50% of patients respond clinically to adalimumab, the only licensed treatment. OBJECTIVES: To examine differences between lesional and nonlesional HS skin at baseline using bulk RNA sequencing, and to compare the transcriptome in the skin before and after 12 weeks of treatment with adalimumab. To examine transcriptomic differences between adalimumab responders and nonresponders using Hidradenitis Suppurativa Clinical Response and the International Hidradenitis Suppurativa Severity Score System (IHS4); and to compare transcriptomic differences based on disease severity (Hurley stage and IHS4). METHODS: We completed bulk RNA sequencing on lesional and nonlesional skin samples of patients before and after 12 weeks of treatment with adalimumab. RESULTS: Baseline differentially expressed genes and pathways between lesional and nonlesional skin highlighted chemokines and antimicrobial peptides produced by keratinocytes; B-cell function; T-cell-receptor, interleukin-17 and nuclear factor-κB signalling; and T-helper-cell differentiation. Transcriptomic differences were identified in lesional skin at baseline, between subsequent responders and nonresponders. Patients with severe HS who did not respond to adalimumab had enriched complement and B-cell activation pathways at baseline. In addition, logistic regression identified CCL28 in baseline lesional HS skin as a potential biomarker of treatment response. CONCLUSIONS: This highlights the potential for targeting B-cell and complement pathways in HS treatment and the potential of stratifying patients at baseline to the most suitable treatment based on the skin transcriptome. CCL28 has not previously been identified in HS skin and has potential clinical relevance due to its antimicrobial function and homing of B and T cells at epithelial surfaces. Our results provide data to inform future translational and clinical studies on therapeutics in HS.


Assuntos
Hidradenite Supurativa , Humanos , Adalimumab/uso terapêutico , Hidradenite Supurativa/tratamento farmacológico , Transdução de Sinais , Transcriptoma , Índice de Gravidade de Doença
2.
4.
Br J Dermatol ; 188(1): 122-130, 2023 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-36689513

RESUMO

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic inflammatory disease that affects intertriginous skin. OBJECTIVES: To determine the extent of work ability and productivity impairment as a result of HS in Germany. METHODS: A prospective, multicentre, epidemiological, noninterventional study of patients with HS was conducted. Medical history, medical examination performed by dermatologists and patient-reported outcomes [Work Ability Index (WAI) and Work Productivity and Activity Impairment (WPAI)] were collected. RESULTS: Of the 481 patients with HS included in the study, 99% were below the current statutory retirement age. In total, 53·3% of patients were working full time, 16·8% part time and 7·3% had retired. The unemployment rate was 12·6%, two times higher than in the general German population. Medical leave because of HS, within the last 6 months, was reported in 41·4% [95% confidence interval (CI) 36·9-46·0], with a duration of 39·3 days on average (95% CI 32·4-46·1). The mean HS-related WPAI absenteeism was 13.3% (95% CI 9·7-16·8), and the loss in productivity because of HS during working hours (WPAI presenteeism) was 25.2% (95% CI 21·8-28·6). Presenteeism was associated with HS disease severity. Overall work impairment because of HS was 33·4% (95% CI 29·3-37·6). The WAI score for patients was 32·2, ∼20% lower than for the average German employee. Only 62·8% of patients were relatively certain that they would be able to perform their work in the coming 2 years. Being more depressed and having more severe pain were associated with lower work ability and overall work impairment. The estimated annual loss of gross value added because of HS for Germany was ∼€12.6 billion (€3.3 billion related to a lower employment rate, €3.5 billion related to absenteeism and €5.8 billion related to presenteeism). CONCLUSIONS: HS leads to a substantial decrease in work ability and productivity and considerable loss of gross value added. Impairment during working hours correlates with disease severity, underlining the socioeconomic importance of early and adequate treatment. Furthermore, decreased work ability and productivity is linked to depressed mood and severe pain, aspects that need more attention in patient care.


Assuntos
Hidradenite Supurativa , Humanos , Estudos Prospectivos , Inquéritos e Questionários , Eficiência , Dor , Absenteísmo , Qualidade de Vida , Índice de Gravidade de Doença
5.
Br J Dermatol ; 188(1): 41-51, 2023 Jan 23.
Artigo em Inglês | MEDLINE | ID: mdl-36689519

RESUMO

BACKGROUND: Pain is rated by patients with hidradenitis suppurativa (HS) as the disease's most impactful symptom. HS therapies are often insufficient to control inflammatory disease activity and pain. A better understanding of patient experiences with pain may improve patient-provider relationships and help identify strategies for addressing HS pain. OBJECTIVES: This qualitative study sought to characterize lived pain experiences of those with HS. METHODS: English-speaking patients ≥ 18 years old with a dermatologist-confirmed diagnosis of HS and an average numerical rating scale pain score of ≥ 1 over the preceding week were recruited from a single academic medical centre in Atlanta, Georgia, USA. Semistructured interviews were conducted from November 2019 to March 2020 to explore participants' HS pain experiences and the subsequent impact on their lives. Thematic saturation was reached after interviewing 21 participants. Interviews were audio recorded, transcribed, and analysed using thematic analysis. RESULTS: Among 21 study participants, the median 7-day average pain score was 6 (interquartile range 3-7; scale ranges from 0 to 10, with 10 being most pain). Participants' descriptions of pain were consistent with nociceptive pain, neuropathic pain and itch. Pain impacted multiple life domains, including physical limitations (decreased mobility and impaired sleep), decreased psychological wellbeing (irritability, depression, loss of control, and difficulty communicating pain experiences) and impaired social relationships (social isolation, intimacy problems and difficulty fulfilling social responsibilities). Although participants reported chronic discomfort, acutely painful and unpredictable HS disease flares caused more distress and quality-of-life (QoL) burden. Participants frequently treated their pain without input from the medical team, sometimes with unsafe medication doses or combinations. Factors contributing to self-management of pain included difficulty accessing timely outpatient care during disease flares and fear of stigma from healthcare providers. CONCLUSIONS: When present, HS-related pain may impact not only physical wellbeing but also mental health and relationships. In addition to therapies that target the inflammatory disease burden, treating the symptom of pain may improve patients' QoL and wellbeing. Because patients with HS have difficulty explaining their pain, proactively asking them about pain may identify unmet needs, facilitate better pain control and improve QoL. Further, the influence of HS-related pain on numerous aspects of QoL suggests the need for multidisciplinary, patient-centred approaches to HS pain management.


Assuntos
Hidradenite Supurativa , Neuralgia , Humanos , Adolescente , Hidradenite Supurativa/diagnóstico , Qualidade de Vida , Manejo da Dor , Efeitos Psicossociais da Doença
6.
7.
Acta Derm Venereol ; 103: adv00846, 2023 Jan 10.
Artigo em Inglês | MEDLINE | ID: mdl-36625209

RESUMO

Type D personality is characterized by social inhibition and negative affectivity. Poorer outcomes and worse quality of life have been linked to type D personality in patients with a variety of non-dermatological diseases. Despite increasing evidence of the importance of type D personality in skin diseases, there are no reviews on this subject. The aim of this review is to summarize the current evidence regarding type D personality and skin diseases. A systematic search was performed using Medline and Web of Science databases from inception to 11 October 2022. Studies addressing the presence of type D personality, its associated factors, its impact on the outcomes of the disease or the quality of life of the patients were included in the systematic review. A total of 20 studies, including 3,124 participants, met the eligibility criteria and were included in the review. Acne, hidradenitis suppurativa, psoriasis, melanoma, atopic dermatitis, chronic spontaneous urticaria and pruritic disorders were the main diseases assessed. Type D personality was more frequent among patients with skin diseases than among controls. Type D personality was found to be associated with poorer quality of life and higher rates of psychological comorbidities in patients with skin diseases. In conclusion, type D personality appears to be a marker of patients with increased risk of poorer quality of life and higher rates of psychological comorbidities. Screening for type D personality in specialized dermatology units might be beneficial to identify patients who are more psychologically vulnerable to the consequences of chronic skin diseases.


Assuntos
Hidradenite Supurativa , Psoríase , Personalidade Tipo D , Humanos , Qualidade de Vida/psicologia , Psoríase/psicologia , Transtornos do Humor/diagnóstico , Transtornos do Humor/epidemiologia
8.
Actas dermo-sifiliogr. (Ed. impr.) ; 114(1): 1-8, jan. 2023. tab
Artigo em Inglês | IBECS | ID: ibc-214464

RESUMO

Background and objectives Hidradenitis suppurativa is a chronic and painful condition with negative impact on daily activity. Little information on the impact of disease-specific factors on educational level and occupational status in hidradenitis suppurativa patients has been reported. We sought to identify how disease-specific factors could influence occupational status and educational level in patients with hidradenitis suppurativa. Methods Cross-sectional study of patients with hidradenitis suppurativa seen between September 2017 and September 2018. Disease-specific variables were analyzed to find associations in patients with different educational levels and occupational status. Results Ninety-eight patients were included. Patients with non-university studies had more frequently ≥ 3 affected areas (22.5% [16/73] vs 4.8% [1/22], p = 0.049), a higher number of painful days (8.5 [SD 8.8] vs 4.6 [SD 4.8], p = 0.048) and a higher score on the VAS scale (6.7 [SD 2.8] vs 5.0 [3.3], p = 0.031). Patients from the inactive group had a significantly increased number of painful days (11.2 [SD 10.4] vs 5.7 [SD 6.2], p = 0.004). This group had a greater number of patients with a history of depression (61.3% [19/31] vs 27.4% [17/62], p = 0.002) and a higher mean BMI (32.3 [9.1] vs 28.4 [6.4], p = 0.016). Late disease onset was significantly associated with being “inactive” (26.7% [8/31] vs 6.5% [4/62], p = 0.026). No significant differences between severity scales of hidradenitis suppurativa and educational level or occupational status were found. Limitations: cross-sectional and single center study. Conclusions Pain, ≥3 affected areas, history of depression, higher mean BMI, and late onset of hidradenitis suppurativa, are associated with low education level and inactive occupational status (AU)


Antecedentes y objetivos La hidrosadenitis supurativa es una condición crónica y dolorosa, con impacto negativo en la actividad diaria. Se ha reportado poca información sobre el impacto que tienen los factores específicos de la enfermedad en el nivel educativo y el estatus ocupacional de los pacientes con esta situación. Nuestro objetivo fue identificar el modo en que dichos factores específicos de la enfermedad podrían influir en el nivel educativo y el estatus ocupacional de los pacientes con hidrosadenitis supurativa. Métodos Estudio transversal de pacientes con hidrosadenitis supurativa examinados entre septiembre de 2017 y septiembre de 2018. Se analizaron las variables específicas de la enfermedad para encontrar una asociación en los pacientes con diferentes niveles educativos y estatus ocupacionales. Resultados Se incluyó a 98 pacientes. Aquellos con estudios no universitarios tenían afectadas más frecuentemente ≥ 3 zonas (22,5% [16/73] vs. 4,8% [1/22], p = 0,049), pasaban un elevado número de días con dolor (8,5 [DE 8,8] vs. 4,6 [DE 4,8], p = 0,048) y su puntuación en la escala EVA era alta (6,7 [DE 2,8] vs. 5 [3,3], p = 0,031). Los pacientes pertenecientes al grupo inactivo tenían un número considerablemente incrementado de días con dolor (11,2 [DE 10,4] vs. 5,7 [DE 6,2], p = 0,004). En este grupo había un mayor número de pacientes con historia de depresión (61,3% [19/31] vs. 27,4% [17/62], p = 0,002) y un mayor IMC medio (32,3 [9,1] vs. 28,4 [6,4], p = 0,016). El inicio tardío de la enfermedad se asoció significativamente a la situación de «inactivo» (26,7% [8/31] vs. 6,5% [4/62], p = 0,026). No se encontraron diferencias significativas entre las escalas de gravedad de la hidrosadenitis supurativa y el nivel educativo y el estatus ocupacional. Limitaciones: estudio transversal y unicéntrico (AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Hidradenite Supurativa/complicações , Dor/etiologia , Ocupações/estatística & dados numéricos , Escolaridade , Estudos Transversais , Qualidade de Vida , Fatores Socioeconômicos , Inquéritos e Questionários
9.
Actas dermo-sifiliogr. (Ed. impr.) ; 114(1): T1-T8, jan. 2023. tab
Artigo em Espanhol | IBECS | ID: ibc-214465

RESUMO

Antecedentes y objetivos La hidrosadenitis supurativa es una condición crónica y dolorosa, con impacto negativo en la actividad diaria. Se ha reportado poca información sobre el impacto que tienen los factores específicos de la enfermedad en el nivel educativo y el estatus ocupacional de los pacientes con esta situación. Nuestro objetivo fue identificar el modo en que dichos factores específicos de la enfermedad podrían influir en el nivel educativo y el estatus ocupacional de los pacientes con hidrosadenitis supurativa. Métodos Estudio transversal de pacientes con hidrosadenitis supurativa examinados entre septiembre de 2017 y septiembre de 2018. Se analizaron las variables específicas de la enfermedad para encontrar una asociación en los pacientes con diferentes niveles educativos y estatus ocupacionales. Resultados Se incluyó a 98 pacientes. Aquellos con estudios no universitarios tenían afectadas más frecuentemente ≥ 3 zonas (22,5% [16/73] vs. 4,8% [1/22], p = 0,049), pasaban un elevado número de días con dolor (8,5 [DE 8,8] vs. 4,6 [DE 4,8], p = 0,048) y su puntuación en la escala EVA era alta (6,7 [DE 2,8] vs. 5 [3,3], p = 0,031). Los pacientes pertenecientes al grupo inactivo tenían un número considerablemente incrementado de días con dolor (11,2 [DE 10,4] vs. 5,7 [DE 6,2], p = 0,004). En este grupo había un mayor número de pacientes con historia de depresión (61,3% [19/31] vs. 27,4% [17/62], p = 0,002) y un mayor IMC medio (32,3 [9,1] vs. 28,4 [6,4], p = 0,016). El inicio tardío de la enfermedad se asoció significativamente a la situación de «inactivo» (26,7% [8/31] vs. 6,5% [4/62], p = 0,026). No se encontraron diferencias significativas entre las escalas de gravedad de la hidrosadenitis supurativa y el nivel educativo y el estatus ocupacional. Limitaciones: estudio transversal y unicéntrico (AU)


Background and objectives Hidradenitis suppurativa is a chronic and painful condition with negative impact on daily activity. Little information on the impact of disease-specific factors on educational level and occupational status in hidradenitis suppurativa patients has been reported. We sought to identify how disease-specific factors could influence occupational status and educational level in patients with hidradenitis suppurativa. Methods Cross-sectional study of patients with hidradenitis suppurativa seen between September 2017 and September 2018. Disease-specific variables were analyzed to find associations in patients with different educational levels and occupational status. Results Ninety-eight patients were included. Patients with non-university studies had more frequently ≥ 3 affected areas (22.5% [16/73] vs 4.8% [1/22], p = 0.049), a higher number of painful days (8.5 [SD 8.8] vs 4.6 [SD 4.8], p = 0.048) and a higher score on the VAS scale (6.7 [SD 2.8] vs 5.0 [3.3], p = 0.031). Patients from the inactive group had a significantly increased number of painful days (11.2 [SD 10.4] vs 5.7 [SD 6.2], p = 0.004). This group had a greater number of patients with a history of depression (61.3% [19/31] vs 27.4% [17/62], p = 0.002) and a higher mean BMI (32.3 [9.1] vs 28.4 [6.4], p = 0.016). Late disease onset was significantly associated with being “inactive” (26.7% [8/31] vs 6.5% [4/62], p = 0.026). No significant differences between severity scales of hidradenitis suppurativa and educational level or occupational status were found. Limitations: cross-sectional and single center study. Conclusions Pain, ≥3 affected areas, history of depression, higher mean BMI, and late onset of hidradenitis suppurativa, are associated with low education level and inactive occupational status (AU)


Assuntos
Humanos , Masculino , Feminino , Adolescente , Adulto Jovem , Adulto , Pessoa de Meia-Idade , Hidradenite Supurativa/complicações , Dor/etiologia , Ocupações/estatística & dados numéricos , Escolaridade , Fatores Socioeconômicos , Inquéritos e Questionários , Estudos Transversais , Qualidade de Vida
11.
Actas Dermosifiliogr ; 114(1): T1-T8, 2023 Jan.
Artigo em Inglês, Espanhol | MEDLINE | ID: mdl-36503621

RESUMO

BACKGROUND AND OBJECTIVES: Hidradenitis suppurativa (HS) is a chronic and painful condition with negative impact on daily activity. Little information on the impact of disease-specific factors on educational level and occupational status in hidradenitis suppurativa patients has been reported. We sought to identify how disease-specific factors could influence occupational status and educational level in patients with HS. METHODS: Cross-sectional study of patients with HS seen between September 2017 and September 2018. Disease-specific variables were analyzed to find associations in patients with different educational levels and occupational status. RESULTS: Ninety-eight patients were included. Patients with non-university studies had more frequently ≥ 3 affected areas (22.5% [16/73] vs. 4.8% [1/22], p = 0.049), a higher number of painful days (8.5 [SD 8.8] vs. 4.6 [SD 4.8], p = 0.048) and a higher score on the VAS scale (6.7 [SD 2.8] vs. 5.0 [3.3], p = 0.031). Patients from the inactive group had a significantly increased number of painful days (11.2 [SD 10.4] vs. 5.7 [SD 6.2], p = 0.004). This group had a greater number of patients with a history of depression (61.3% [19/31] vs. 27.4% [17/62], p = 0.002) and a higher mean BMI (32.3 [9.1] vs. 28.4 [6.4], p = 0.016). Late disease onset was significantly associated with being «inactive¼ (26.7% [8/31] vs. 6.5% [4/62], p = 0.026). No significant differences between severity scales of HS and educational level or occupational status were found. LIMITATIONS: cross-sectional and single center study. CONCLUSIONS: Pain, ≥ 3 affected areas, history of depression, higher mean BMI, and late onset of HS, are associated with low education level and inactive occupational status.


Assuntos
Hidradenite Supurativa , Humanos , Estudos Transversais , Hidradenite Supurativa/complicações , Hidradenite Supurativa/epidemiologia , Dor/epidemiologia , Dor/etiologia , Escolaridade , Emprego , Qualidade de Vida , Índice de Gravidade de Doença
13.
Dermatology ; 238(3): 487-497, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-34474409

RESUMO

BACKGROUND: Hidradenitis suppurativa (HS) is a chronic, inflammatory, recurrent, debilitating skin disease of the hair follicle that usually occurs after puberty with painful, deep-seated, inflamed nodules and sinus tracts in the apocrine gland-bearing areas of the body, most commonly the axillae and inguinal and anogenital regions, with a relevant impact on patients' quality of life (QoL). OBJECTIVE: To evaluate how the burden of HS disease impacts on patient well-being and working activities in a large Italian population over a period of 9 months. METHODS: A multicenter, prospective, epidemiologic cohort study was conducted in adult Italian patients with HS. HS severity was assessed through Hurley stage and HS Physician's Global Assessment (HS-PGA), clinical improvement by HS Clinical Response (HiSCR) and partial response, and disease burden through QoL questionnaires (HIDRAdisk, Skindex-16, Dermatology Life Quality Index [DLQI]), and Work Productivity and Activity Impairment - General Health (WPAI:GH). RESULTS: A total of 308 patients (56.2% women; mean age 35.2 ± 12.9 years) were enrolled in 27 dermatologic clinics. Men were older (37.4 years vs. 33.5), more smoking addicted (74.1% vs. 60.1%), and alcohol consumer (34.1% vs. 13.9%), while more women were obese (34.10% vs. 22.22%). At baseline, most patients had a Hurley severity stage of 2 (43.9%), a moderate HS-PGA score (57.1%), and poor QoL (HIDRAdisk: 65.7 ± 23.3, Skindex-16: 60.3 ± 26.9, and DLQI: 10.8 ± 8.1). Patients with more severe disease showed worse QoL. Mean values for the variables related to HS severity decreased during the study period. The achievement of HiSCR and partial response increased during the study. CONCLUSION: This study offers insight into the disease burden of HS in an Italian population. Our results underline the impact of QoL evaluation, also with the use of the HIDRAdisk, in clinical routine as a support to validated severity clinical and instrumental indexes for a "360-degree" assessment of HS patient's burden of disease.


Assuntos
Hidradenite Supurativa , Adulto , Estudos de Coortes , Efeitos Psicossociais da Doença , Feminino , Hidradenite Supurativa/epidemiologia , Humanos , Itália/epidemiologia , Masculino , Pessoa de Meia-Idade , Estudos Prospectivos , Prostaglandinas A , Qualidade de Vida , Índice de Gravidade de Doença , Adulto Jovem
16.
J Drugs Dermatol ; 21(12): 1358-1360, 2022 Dec 01.
Artigo em Inglês | MEDLINE | ID: mdl-36468954

RESUMO

Hidradenitis suppurativa (HS) is a morbid, recurrent skin condition that presents a major challenge to clinical therapy. Investigation into the pathogenesis of HS has implicated local and systemic pro-inflammatory cytokines, particularly TNF-α and IL-17A, as major determinants of disease progression and severity. This has ushered in a revolution in HS therapy with biologics targeting these cytokines. We report a case of a 36-year-old man with extensive and treatment-resistant Hurley Stage 3 HS. After undergoing numerous unsuccessful trials of topical, systemic, and biologic therapies, secukinumab therapy with 150 mg weekly injections was initiated. HS clinical response was seen after 20 weeks and was maintained for almost two years. Secukinumab 150 mg or 300 mg once weekly may be an effective and safe therapeutic option for moderate-to-severe chronic HS. J Drugs Dermatol. 2022;21(12):1358-1360. doi:10.36849/JDD.6752.


Assuntos
Hidradenite Supurativa , Masculino , Humanos , Adulto , Hidradenite Supurativa/diagnóstico , Hidradenite Supurativa/tratamento farmacológico , Interleucina-17 , Inibidores de Interleucina , Citocinas
18.
J Natl Med Assoc ; 114(6): 613-616, 2022 Dec.
Artigo em Inglês | MEDLINE | ID: mdl-36511276

RESUMO

Hidradenitis suppurativa is a chronic, debilitating skin disease that disproportionately affects African Americans, and care-related factors may contribute to this disparity. In this study, we investigated delay in diagnosis and dermatologic care for HS at an urban Midwestern Academic Center. A retrospective chart review of 1,190 patients with 3 or more encounters for HS between 1/1/2002 and 3/19/2019 was conducted. A total of 953 patients were included in statistical analysis. A mean (standard deviation) delay in diagnosis was 4.1 ± 7.0 years. For white patients the delay in diagnosis was 3.2 ± 6.3 years, for Black patients 4.8 ± 7.0 years, for Hispanic patients 4.7 ± 5.8 years, and for other races 4.9 ± 7.4 years (p <0.001). Among the 932 patients with known specialist visit types, 500 (53.6%) had seen dermatology including 222 (47.8%) of Black patients, 242 (59.5%) of white patients, 24 (64.9%) of Hispanic patients, and 12 (50%) patients of other races (p=0.003).White patients and Hispanic patients saw a dermatologist an average of 3.0 years after first presentation of HS and Black patients saw a dermatologist on average 5.0 years after first presentation (p=0.004). Of the patients who did see dermatology, 44.9% of Black patients, 31.6% of white patients, 23.1% of Hispanic patients, and 30.8% of other races saw surgery before dermatology (p<.001). Our results indicate that non-white patients have a longer delay in diagnosis than their white counterparts and that Black patients do not see dermatology as early in their disease course as other racial groups. Black patients also see surgery more often than white patients before seeing dermatology, which could suggest greater disease severity at presentation and diagnosis or difficult access to dermatology.


Assuntos
Hidradenite Supurativa , Humanos , Estudos Retrospectivos , Hidradenite Supurativa/diagnóstico , Hidradenite Supurativa/terapia , Hispânico ou Latino
19.
Front Immunol ; 13: 1060547, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36544771

RESUMO

Hidradenitis suppurativa (HS) is a chronic inflammatory skin disease with a multifactorial aetiology that involves a strict interplay between genetic factors, immune dysregulation and lifestyle. Familial forms represent around 40% of total HS cases and show an autosomal dominant mode of inheritance of the disease. In this study, we conducted a whole-exome sequence analysis on an Italian family of 4 members encompassing a vertical transmission of HS. Focusing on rare damaging variants, we identified a rare insertion of one nucleotide (c.225dupA:p.A76Sfs*21) in the DCD gene encoding for the antimicrobial peptide dermcidin (DCD) that was shared by the proband, his affected father and his 11-years old daughter. Since several transcriptome studies have shown a significantly decreased expression of DCD in HS skin, we hypothesised that the identified frameshift insertion was a loss-of-function mutation that might be associated with HS susceptibility in this family. We thus confirmed by mass spectrometry that DCD levels were diminished in the affected members and showed that the antimicrobial activity of a synthetic DCD peptide resulting from the frameshift mutation was impaired. In order to define the consequences related to a decrease in DCD activity, skin microbiome analyses of different body sites were performed by comparing DCD mutant and wild type samples, and results highlighted significant differences between the groins of mutated and wild type groups. Starting from genetic analysis conducted on an HS family, our findings showed, confirming previous transcriptome results, the potential role of the antimicrobial DCD peptide as an actor playing a crucial part in the etio-pathogenesis of HS and in the maintenance of the skin's physiological microbiome composition; so, we can hypothesise that DCD could be used as a novel target for personalised therapeutic approach.


Assuntos
Anti-Infecciosos , Dermocidinas , Hidradenite Supurativa , Criança , Humanos , Anti-Infecciosos/metabolismo , Hidradenite Supurativa/genética , Hidradenite Supurativa/metabolismo , Mutação , Peptídeos/genética , Peptídeos/metabolismo , Pele/metabolismo , Masculino , Feminino
20.
Front Immunol ; 13: 1033844, 2022.
Artigo em Inglês | MEDLINE | ID: mdl-36532043

RESUMO

Background: Hidradenitis suppurativa were associated with comorbidities in various organ systems. Inflammatory dermatological diseases such as pyoderma gangrenosum were reported to be associated with hidradenitis suppurativa. Nevertheless, as for the association between hidradenitis suppurativa and psoriasis, evidences were insufficient. In many studies, the association between psoriasis and hidradenitis suppurativa has been reported. However, some evidence seems to be controversial. The purpose of the systematic review and meta-analysis was to assess whether there was significant association between HS and psoriasis. Methods: On June 01, 2022, we appraised 2,795 articles from databases including PubMed, Web of Science and Embase. Search syntaxes were based on 'hidradenitis suppurativa' or 'acne inversa' with "psoriasis", "comorbidities" or 'epidemiology'. Synonyms were determined based on MeSH terms and Emtree. Observational results that evaluated the odds ratio for people with hidradenitis suppurativa who had psoriasis were extracted for qualitative synthesis. Results: After the selection process of the initial 2,795 studies, ten observational studies, including 3 cohort studies, 1 case-control study, and 6 cross-sectional studies, were extracted for critical appraisal. Based on the integration of 7 studies (with more than 560,000 participants included), people with hidradenitis suppurativa had a higher risk of having psoriasis, with a 2.67-fold risk (95% CI, 1.84, 3.87). The association remained in the sensitivity analyses utilizing strict adjustment models. In the analysis that only included studies with a similar study design and adjustments in obesity-related factors, the risk of people with hidradenitis suppurativa having psoriasis was 3.24 (95% CI, 2.27, 4.62). In male patients with HS, the risk of having psoriasis was 4.30-fold higher than male patients without HS (95% CI, 2.37, 7.78). Likewise, in an analysis including 3 cross-sectional studies, the risk of female HS patients having psoriasis was 3.94-fold higher than female HS-free patients (95% CI, 2.34, 6.63). Conclusions: The co-occurrence of hidradenitis suppurativa and psoriasis can greatly increase the burden of the disease. Psoriasis could be one of the critical comorbidities of hidradenitis suppurativa and should be recommended for future screening and follow up. The association between the two diseases should be kept in mind in managing hidradenitis suppurativa patients. More prospective studies are needed to establish the true magnitude of the association between psoriasis and hidradenitis suppurativa.


Assuntos
Hidradenite Supurativa , Psoríase , Humanos , Masculino , Feminino , Estudos Transversais , Estudos de Casos e Controles , Hidradenite Supurativa/complicações , Hidradenite Supurativa/epidemiologia , Psoríase/epidemiologia , Psoríase/complicações , Comorbidade
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