Cases Of Hidradenitis Suppurativa Research Articles

A Case of Hidradenitis Suppurativa with Plaque Morphea: Association or Chance?

Abstract Hidradenitis suppurativa (HS) is a chronic inflammatory disease of the apocrine glands characterized clinically by recurrent nodules, abscesses, and discharging sinuses which heal with a bridge or rope-like scars in the axilla, groin, and perineum. HS is seen to be associated with several other autoimmune and pilosebaceous structural disorders. We present the case of a 50-year-old obese female, known case of HS for 3 years who developed hyperpigmented indurated plaques over the breasts for the past 1 year. Histopathology from the plaques showed thickened and homogenized collagen bundles. A diagnosis of plaque morphea was made based on the clinical and histopathological findings. There are few case reports of HS associated with connective tissue diseases (CTDs) such as systemic lupus erythematosus, Sjogren’s syndrome, and systemic vasculitis. We discuss the shared pathogenesis of HS and CTDs which may have led to morphea developing in our patient.

An Updated Mutation Spectrum of the γ-Secretase Complex: Novel NCSTN Gene Mutation in an Indian Family with Hidradenitis Suppurativa and Acne Conglobata.

Hidradenitis suppurativa (HS) is a complex, chronic inflammatory skin disorder whose pathophysiology is poorly understood. Genetic studies have shown that HS is predisposed by mutations in the γ-secretase gene, but only a proportion of familial and partial sporadic cases have been shown to possess such mutations. HS has high genetic heterogeneity and is thought to be triggered by a combination of genetics and environmental factors. The study aimed to investigate the genetic causes of HS in a large cohort of patients and to update the mutation spectrum of γ-secretase complex genes. We conducted mutational screening of 95 sporadic HS cases and one large family with both HS and acne conglobata (AC) to identify mutations in the coding and splice junction region of γ-secretase complex genes (nicastrin (NCSTN), presenilin 1 (PSEN1), presenilin enhancer 2 (PSENEN), and aph-1 homolog B, gamma-secretase subunit (APH1B)). Our study identified a nucleotide substitution of 1876C>T in the NCSTN gene, which caused a stop codon (p.Arg626X) in the affected members of a large family with HS and AC. No pathogenic variants were detected in 95 sporadic cases of HS, indicating there is possible genetic heterogeneity. We report a new family with a nonsense mutation in the NCSTN gene that supports the role of the γ-secretase complex genes in HS with AC. The updated γ-secretase mutation spectrum for HS now includes 78 mutations.

Long-term risk of death in patients with hidradenitis suppurativa.

Hidradenitis suppurativa (HS) is associated with substantial morbidity. Few studies have addressed the natural history and mortality rates associated with HS. A higher risk of cardiovascular death in patients with HS has been reported. We investigated whether patients with HS have an increased overall risk of death compared with age- and gender-matched referents. We performed a retrospective cohort study of residents of Olmsted County, Minnesota, with incident HS between January 1, 1980, and December 31, 2008, and age- and gender-matched referents. The main outcomes and measures were the overall and cause-specific risks of death. We identified 226 incident cases of HS and 678 age- and gender-matched referents among Olmsted County residents during the study period. Compared to referents, patients with HS had a significantly higher risk of all-cause death (hazard ratio [HR, 2.48; 95% CI, 1.53-4.03, P < 0.001) and cardiovascular- or cerebrovascular-related death (HR, 2.85; 95% CI, 1.10-7.40, P = 0.03). However, these risks were attenuated by adjusting for smoking history: all-cause HR, 1.65 (95% CI, 0.97-2.82, P = 0.07) and cardiovascular- or cerebrovascular-related HR, 2.03 (95% CI, 0.71-5.81, P = 0.18). The 71% of patients were former or current smokers at the time of HS diagnosis. Hidradenitis suppurativa patients have a substantially increased risk of death from any cause, including cardiovascular or cerebrovascular causes; the risk is especially dependent on smoking history.

How to Define Mild to Severe Hidradenitis Suppurativa? A Simple New Tool Based on Latent Class Analysis of EPIVER Data Study.

PurposeHidradenitis suppurativa (HS) is an inflammatory skin disease characterized by recurrent or chronic painful and suppurating lesions in the apocrine gland-bearing regions. The lack of knowledge about HS and its extremely heterogeneous clinical presentation, in terms of both lesion appearance and sites of involvement, frequently delay its diagnosis for several years. Objectives: in this study, using the latent class analysis, it was demonstrated that severity of HS could be evaluated not only with clinical or surgical characteristics but also with gender specificities.Patients and MethodsClinical and sociodemographic data of HS patients were retrospectively analysed with the latent class method in order to create a classification tool of disease severity.ResultsFrom the study of 1428 HS patients (544 men and 884 women), two classification models, depending on gender, were developed. Each classification model was composed of three distinct latent classes clearly identified and defined from mild-to-severe cases of HS. These classification models of HS severity were not distorted by patient ages and were coherent with Hurley stages but were more clinically precise.ConclusionIn this study, a convenient classification tool, useful for facilitating decision support in routine practice, has been developed. This tool could be used to define clinical subgroups within a study population.

Case Report: Comorbid Hyper-IgD Syndrome and Hidradenitis Suppurativa – A New Syndromic Form of HS? A Report of Two Cases

Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit. The current model of HS pathophysiology describes the condition as the product of hyperkeratinisation and inflammation at the hair follicular unit. Environmental factors (such as smoking and obesity), gender, genetic predisposition, and skin dysbiosis are considered the main pathogenic drivers of the disease. Autoinflammatory syndromes associated with HS are rare but may help to highlight the potential roles of autoinflammation and dysregulated innate immune system in HS. Therefore, it is of major relevance to increase the awareness about these diseases in order to improve the understanding of the disease and to optimize the management of the patients. Herein, we report for the first time, to our knowledge, two clinical cases of Hyper-IgD syndrome-associated HS. Hyper-IgD is an autoinflammatory syndrome caused by a mevalonate kinase deficiency (MKD), a key kinase in the sterol and isoprenoid production pathway. We describe the potentially shared pathophysiological mechanisms underpinning comorbid MKD-HS and propose therapeutic options for the management of these patients.

Intermammary Hidradenitis Suppurativa: A Case Report

Hidradenitis suppurativa (HS) is a chronic relapsing inflammatory skin disease clinically characterized by recurrent, deep-seated, painful, subcutaneous nodules, sinus tracts, and hypertrophic scarring. This disease affects hair follicles in the apocrine gland-bearing areas such as the axillae, buttocks, as well as the genital and perineal areas. In women, the predilection sites of HS include the anterior part of the body, most commonly on the breasts, inframammary area, and groin. Intermammary location possibly represents a rare phenotype presentation. A case of intermammary HS in a 24-year-old woman was reported. The patient is overweight and is a smoker. Frequent friction and excessive sweating between big breasts were admitted. Chronic painful nodules accompanied by sinuses and scars between the breasts were found. Histopathological examination from a skin lesion on the intermammary area showed follicular occlusion, follicular hyperkeratosis, and destroyed hair follicles. There were also apocrine glands and hair follicles surrounded by massive neutrophils, lymphocytes, and histiocytes, suggestive of HS. The patient was given rifampicin and clindamycin. Clinical improvements were observed on the third week of observation. Typical lesion distribution is one of the criteria for establishing a definite diagnosis of HS. If the lesion is on an atypical site, it must be accompanied by at least one on the typical site. However, the predilection sites of HS often varied. The intermammary area is an intertriginous area, and mechanical friction, follicular occlusion, and rupture of the dilated follicles may contribute to the development of HS in the area. The existence of a typical lesion in an atypical distribution, without any lesion present in typical predilection sites, cannot rule out diagnostic consideration of HS. Therefore, clinicians should be aware and consider the diagnosis of HS even when the required criteria of HS are not fulfilled.

Role of magnetic resonance imaging in the pre‐surgical planning of perianal hidradenitis suppurativa, complicated by anal fistulae: A case report and review of the literature

Hidradenitis Suppurativa (HS) is a chronic inflammatory disease of the skin starting from the apocrine glands and mainly involving the axilla, perineum and perianal area. It is clinically defined by the onset of painful subcutaneous nodularities, associated with signs of local inflammation, whose progression proceeds towards the definition of true subcutaneous abscess collections from which fistulous pathways branch off. These lesions result in severe fibro-cicatricial deformities. The diagnosis of HS, which is basically clinical, is followed, due to the recurrent/relapsed nature of the disease, by a difficult therapeutic management, which makes use of different treatments depending on the severity of the pathological picture, ranging from topical or systemic medical therapy to surgical excision. Imaging examinations, although not specific enough in the diagnosis of HS, are essential to define the loco-regional extension of the disease and to exclude possible alternative diagnoses. In particular, MRI plays a key role in the study of HS with anogenital localization, both for the recognition of lesions in the active phase and for the assessment of the local extension of the disease, in particular in adequately demonstrating the entire course of the fistulas and the relationships with the neighboring anatomical structures. This allows the optimization of its treatment, in order to reduce disease recurrence. The case presented by us describes the MRI characteristics in a rare case of HS, complicated by anal fistulae.

Hidradenitis Suppurativa: Estimated Prevalence, Clinical Features, and Risk Factors in Riyadh, Saudi Arabia.

BackgroundHidradenitis suppurativa (HS) is a chronic and recurrent inflammatory disease with a global prevalence of 1-4%, characterized by multiple painful nodules, abscesses, and fistulas that form scars in intertriginous regions (i.e., inguinal, axillary, mammary). HS is a complex and debilitating disease with a negative impact on quality of life. We aim to determine the prevalence, clinical features, risk factors, and comorbidities of HS.MethodologyA retrospective, descriptive, cross-sectional study was conducted in King Abdulaziz Medical City from 2016 to 2020. Information of all confirmed cases of HS was extracted via computerized medical records. Data analysis was performed using SPSS version 24 (IBM Corp., Armonk, NY, USA). Categorical data were calculated based on frequency and percentage using the chi-square test to obtain p-values.ResultsOur initial search yielded 196 cases, of which 13 were excluded due to incomplete medical information. The prevalence of HS was 1.29%. The mean age was 27 years, with a male predominance. More than one-third of our patients were morbidly obese, and most of the patients were in Hurley stage 1 of both genders. The most commonly affected area was the axilla, followed by the inguinal area. The most common coexisting disease was diabetes mellitus type 2, followed by lipid disorders and acne.ConclusionsThis study documents the common demographic and clinical features of HS. It is a challenging disease in terms of detection and management, and it is critical to raise awareness among the public and physicians to minimize the devastating impact on HS patients.

Color Doppler and Microvascular Flow Imaging to Evaluate the Degree of Inflammation in a Case of Hidradenitis Suppurativa

Microvascular flow imaging is a new ultrasound technique with better ability than color Doppler imaging to identify small vessels that have slow blood flow, and it permits better evaluation of the features, especially microvascular architecture, of various lesions. We describe a case of inguinal hidradenitis suppurativa in a patient with positive risk factors (young age, female, smoker, and obese), diagnosed by ultrasonography using B-Mode, color Doppler, and finally also with microvascular flow imaging. Our aim is to demonstrate the usefulness of this new technique in characterization of lesions.

Evidence of gene-gene interaction in hidradenitis suppurativa: a nationwide registry study of Danish twins.

Hidradenitis suppurativa (HS) is a recurrent inflammatory skin disease that, apart from rare causative loss-of-function mutations, has a widely unknown genetic aetiology. To estimate the relative importance of genetic and environmental factors underlying susceptibility to HS. Via the Danish Twin Registry and the Danish National Patient Registry we pulled together information on zygosity with that of HS status. Cases of HS were identified by the International Classification of Diseases (ICD)-8 (705·91) and ICD-10 (L73·2). Heritability was assessed by the classic biometric model and the possibility of gene-gene interaction via the multilocus modelling approach. Among 100 044 registered twins, we found 170 twins (from 163 pairs) diagnosed with HS. The seven concordant pairs were all monozygotic. Monozygotic twins had a case-wise concordance rate of 28% [95% confidence interval (CI) 7-49], corresponding to a familial risk of 73 (95% CI 13-133) times that of the background population. The biometrical modelling suggested a heritability of 0·80 (95% CI 0·67-0·93), and the multilocus index estimate was 230 (95% CI 60-400). This is highly indicative of gene-gene interactions, with the possibility of up to six interacting loci. This twin study was substantially larger and employed a more valid phenotype than previous studies. Genetics account for the majority of HS susceptibility, and HS is most likely caused by gene-gene interactions rather than monogenetic mutations or solely additive genetic factors. New approaches aimed at assessing potential interactions at a single-nucleotide polymorphism (SNP)-SNP level should be implemented in future HS genome-wide association studies.

Golimumab for the Treatment of Hidradenitis Suppurativa in Patients with Previous TNF-α Treatment Failure

Hidradenitis suppurativa (HS) is a chronic inflammatory disease of the skin presenting with recurrent inflammatory nodules, cysts, abscesses, sinus tracts, and scar formation. Combined medical and surgical management is often required. The only Food and Drug Administration‒approved treatment for HS, adalimumab, is a mAb targeting TNF-α (Alikhan et al., 2019a, 2019b; Kimball et al., 2016). The use of golimumab, another fully humanized TNF-α inhibitor, has been described in two cases of HS with mixed results (Tursi, 2016; van der Zee and Prens, 2013).

Surgical Excision of a Pilonidal Sinus at the Neck Region

Pilonidal sinus (PNS) is a clinically diagnosed condition caused by hair entrapment underneath the skin leading to a granulomatous reaction and the formation of a tract. PNS is commonly found in the sacrococcygeal area (natal cleft). However, this is a rare case presentation of a male patient with PNS located at the back of his neck region as there were only four similar conditions reported in the literature review. The patient was first managed medically as a case of hidradenitis suppurativa by the dermatology department. Later on, when the treatment failed, he was treated surgically as a case of PNS with an excellent outcome. The patient was seen at the outpatient clinic one week after surgery. The wound was healed completely and totally recovered.

Una ragazzina che suda pus: l’idrosadenite suppurativa

Hidradenitis suppurativa (HS) is a chronic or recurrent autoinflammatory skin disease that affects apocrine gland-bearing regions. Typical lesions are nodules and abscesses that often result in sinus tracts and fistulas. The paper describes a case of recurrent inguinal HS in a 12-year-old girl with Down syndrome. A stable remission was achieved with a systemic corticosteroid therapy (prednisone).

Hidradenitis Suppurativa in Postmenopause

Hidradenitis suppurativa (HS) is a chronic, debilitating disease with a profound impact on the quality of life of patients.To describe a rare case of HS with postmenopausal onset, to review the literature data regarding late onset HS and to discuss the current knowledge on the role of endocrine abnormalities in the development of HS.We report the case of a 68-year-old patient in whom HS occurred 10 years after menopause. She was referred to our clinic for the presence of an open fistula on the left groin, fibrotic scars and visible alteration of the vulvar anatomy due to numerous surgical interventions. The patient shared features of the metabolic syndrome (obesity, arterial hypertension, dyslipidemia, aortic atherosclerosis), but showed no signs of virilism and no hormonal abnormality. HS was controlled using antiseptics, topical retinoids and antibiotics.This case is of particular interest given the late onset of HS, long time after menopause. The development of HS requires a complex interaction between genetic predisposing factors, endocrine dysregulation, metabolic alterations, bacterial overgrowth and an aberrant inflammatory response. Evidence points to an important role of sex-hormones in the emergence and progression of the disease, but the underlying mechanisms are still unclear. A better understanding of HS pathogenesis is needed to elucidate the precise way in which endocrine factors influence the disease onset and course. This would guide the way to novel therapies and a better control of this challenging disease.

Verneuil’s Disease or Hidradenitis Suppurativa Complicated by Verrucous Carcinoma: Description of a Case with Extremely Extended Pathology in Pregnancy

Background: Verneuil’s disease is a rare suppurative pathology of apocrine glands and pilosebaceous system of the inguinal-pelvis and perianal region with a multifactorial aetiology. The disease produces skin fistulas, draining a serum-purulent material on the skin, and finally with spontaneous healing. Verneuil’s disease can be complicated by recurrence, and unfortunately, by squamous carcinoma. We have found in literature, just 2 cases of Hidradenitis Suppurativa, complicated by Verrucous Carcinoma. Main Observation: we describe a patient F, 34-year-old, comes to our observation at 4th gestational month, with suppurative sinus pilonidalis diagnosis and with the absolute indication of the gynaecologist to the abortion. We decided to continue the pregnancy. The patient gives birth with C. to 9 months; the new-born baby was perfectly healthy and after the maternal milk analysis, the baby also nursed for about 2 months. Finally, we decided to perform a wide excision biopsy and after a controversial histology (first Warty Carcinoma, then after a “second view” Suppurative Hidradenitis), we started a series of medical treatments, including biological therapy with Infliximab, but unfortunately with fleeting results. The patient did not answer substantially. Therefore, the last chance appears a combined demolitive and plastic surgical treatment. The histology described a Verrucous squamous cell carcinoma maximum diameter of 38 x 26 cm, with lateral deep margins free of neoplastic involvement. Conclusion: This very advanced clinical behaviour of the Hidradenitis Suppurativa can present in pregnancy, therefore, motivating the interruption of the same one. Our experience contributes to underlining the possibility to bring to term the pregnancy. This case report shows how the hormonal activity can anyway influence the development of the hidradenitis and an interesting hypothesis could consider the hormonal activity of the pregnancy and the HPV promoting gene regulation (RB) from inflammatory pathology to neoplastic pathology in VC like a model to study.

Association of Birth Weight, Childhood Body Mass Index, and Height With Risk of Hidradenitis Suppurativa

There is a lack of evidence on the association of birth weight, childhood body mass index (BMI), change in BMI during childhood, and childhood height with subsequent risks of hidradenitis suppurativa (HS) in adulthood. To investigate the association of birth weight, childhood BMI, change in BMI during childhood, and childhood height with subsequent risks of HS in adulthood in a large Danish population-based cohort. This cohort study included 347 200 schoolchildren from the Copenhagen School Health Records Register born from 1930 to 1996 who were linked to the Danish National Patient Register of hospital discharge diagnoses to identify cases of HS. Birth weight was reported by parents or guardians, whereas childhood weight and height were measured by school physicians or nurses at ages 7 through 13 years. Cox proportional hazards regressions were used to estimate hazard ratios (HRs) and 95% CIs. Statistical analysis was performed from February 20, 2019, to May 15, 2019. A diagnosis of HS as recorded in the Danish National Patient Register. Among the 347 200 children included in the study (175 750 boys) during the follow-up period from 1977 to 2017, 1037 individuals (677 females; median age at diagnosis, 39 years [range, 15-73 years]) received a diagnosis of HS. A nonlinear (U-shaped) association was found between birth weight and HS, such that both the lightest (2.00-2.75 kg; HR, 1.36 [95% CI, 1.10-1.68]) and the heaviest babies (4.26-5.50 kg; HR, 1.39 [95% CI, 1.01-1.93]) had increased risks of HS compared with normal-weight babies (3.26-3.75 kg; P = .04 for deviation from linearity). The risk of HS increased significantly with increasing BMI z score at each age from 7 to 13 years, from an HR of 1.32 (95% CI, 1.24-1.40) per BMI z score at 7 years of age to an HR of 1.50 (95% CI, 1.40-1.61) per BMI z score at 13 years of age. Compared with children with a normal weight at 7 and 13 years of age, those with a normal weight at 7 years of age and overweight at 13 years of age had a significantly increased risk of HS (HR, 2.11 [95% CI, 1.63-2.74]) and children with persistent overweight at both ages also had an increased risk of HS (HR, 2.61 [95% CI, 2.02-3.38]). Children with overweight at 7 years of age but with normal weight at 13 years of age did not have a significantly increased risk of HS (HR, 1.05 [95% CI, 0.67-1.67]). Childhood height at all ages was not associated with risk of HS (children at 7 years had an HR of 1.00 [95% CI, 0.94-1.07], and those 13 years had an HR of 1.06 [95% CI, 0.99-1.13], per z score). This cohort study found that both the lightest and heaviest babies had increased risks of HS. Childhood BMI was positively and significantly associated with risk of HS development in adulthood. These findings suggest that returning to normal weight before puberty reduces risks of HS to levels observed in children who were never overweight. Childhood height was not associated with risk of HS.

Paradoxical Hidradenitis Suppurativa in Patients Receiving TNF-α Inhibitors: Case Series, Systematic Review, and Case Meta-Analysis

Background/Aims: TNF-α inhibitors represent the most advanced approved therapeutic option for moderate and severe forms of hidradenitis suppurativa (HS). However, in recent years, cases of paradoxical HS secondary to the use of these biological drugs have been described, with very few cases reported in the literature. The aims of this study are (1) to present 2 new cases of paradoxical HS and (2) to perform a systematic review of scientific evidence regarding paradoxical HS with TNF-α inhibitors. Material and Methods: This is a retrospective study in which we searched all the cases of paradoxical HS secondary to the use of TNF-α inhibitors published in the literature and included two additional cases observed in our clinical practice. Results: A total of 34 patients under TNF-α inhibitor treatment were included (adalimumab = 21; infliximab = 9; etanercept = 4). The median delay from exposure to TNF-α inhibitor and the development of paradoxical HS was 12 months (range 1–72). The majority of patients were Hurley stage II (58.8%). Clinical improvement and complete remission were more frequent when the TNF-α inhibitor was stopped or switched to another biological agent with a different therapeutic target rather than maintenance or change to another TNF-α inhibitor. Conclusions: Paradoxical HS is an unusual adverse effect of TNF-α inhibitors. When this adverse effect appears, interruption or substitution of treatment is associated with a better clinical outcome.

A case of hidradenitis suppurativa and Darier disease in a patient treated with acitretin: how to kill two birds with one stone

article: A case of hidradenitis suppurativa and Darier disease in a patient treated with acitretin: how to kill two birds with one stone - Giornale Italiano di Dermatologia e Venereologia 2020 Mar 10 - Minerva Medica - Journals

Follicular occlusion triad: an isotopic response or adverse effect of rituximab?

Follicular occlusion triad is a symptom complex of three conditions with a similar pathophysiology including hidradenitis suppurativa (HS), dissecting cellulitis of the scalp, and acne conglobata. Although the exact pathogenesis of the triad is unknown, it appears to be related to follicular occlusion in areas with apocrine glands. Wolf isotopic response refers to the occurrence of a new dermatosis at the site of another, unrelated, previously healed dermatosis. We present a 26-year-old man with a history of pemphigus foliaceus (PF) who developed large draining nodules with scarring and sinus tracts, compatible with follicular occlusion triad, preferentially at areas previously affected by PF thirteen months after treatment with rituximab. To the authors' knowledge there are no reported cases of follicular occlusion triad or HS manifesting as an isotopic response. However, one member of the triad, HS, has been reported to occur infrequently following the use of biologic agents such as adalimumab, infliximab, tocilizumab, and rituximab for chronic immune-mediated inflammatory diseases (psoriasis, Crohn disease, rheumatoid arthritis, and ankylosing spondylitis).

Hidradenitis suppurativa and metabolic syndrome - systematic review and adjusted meta-analysis.

Hidradenitis suppurativa (HS) is a debilitating and distressing chronic systemic inflammatory skin disease. There have been several prior observational studies which reported a possibility link between HS and metabolic syndrome, however the current evidence is not definitive. It is unclear in HS whether this possible relationship is independent or driven by underlying risk factors and comorbidities. To determine whether HS is independently associated with metabolic syndrome via adjusted meta-analysis of case-control studies. A systematic review and meta-analysis was performed according to PRISMA guidelines. Electronic searches were performed using six electronic databases (Ovid Medline, PubMed, CCTR, CDSR, ACP Journal Club, and DARE) from their inception until September 2018. Data were extracted and analyzed according to predefined clinical endpoints. We identified six case-control studies included for meta-analysis. Based on unadjusted analysis, we found a significant association between adult cases of HS and metabolic syndrome (OR 1.95, 95% CI 1.31-2.89, P=0.001). Adjusted meta-analysis, after adjustment for age, sex, other cardiovascular risk factors, and comorbidities, found a significant association (OR 2.19, 95% CI 1.70-2.81, I2 =32%, P<0.00001). Studies reviewed were observational by design which are susceptible to bias, and there waslack of randomization. The quality of the current systematic review is also limited by the quality of available evidence which was predominantly observational in nature. This pooled analysis of existing case-control studies supports an association between HS and metabolic syndrome. Clinicians treating patients with HS should be aware of this potential association.