Hailey-Hailey disease: clinical, diagnostic and therapeutic update

Abstract Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes. It has an estimated prevalence of 1/50,000, with no gender or race predilection. It results from a heterozygous mutation in the ATP2C1 gene, which encodes the transmembrane protein hSPA1C, present in all tissues, with preferential expression in keratinocytes. Mutations in the ATP2C1 gene cause changes in the synthesis of junctional proteins, leading to acantholysis. It usually begins in adulthood, with isolated cases at the extremes of life. It manifests as vesico-bullous lesions mainly in the flexural areas, which develop into erosions and crusts. Chronic lesions may form vegetative or verrucous plaques. Pruritus, a burning feeling and pain are common. It evolves with periods of remission and exacerbation, generally triggered by humidity, friction, heat, trauma and secondary infections. The diagnosis is based on clinical and histopathological criteria: marked suprabasal acantholysis, loosely joined keratinocytes, giving the appearance of a "dilapidated brick wall", with a few dyskeratotic cells. The acantholysis affects the epidermis and spares the adnexal epithelia, which helps in the differential diagnosis with pemphigus vulgaris. Direct immunofluorescence is negative. The main differential diagnoses are Darier disease, pemphigus vegetans, intertrigo, contact dermatitis, and inverse psoriasis. There is no cure and the treatment is challenging, including measures to control heat, sweat and friction, topical medications (corticosteroids, calcineurin inhibitors, antibiotics), systemic medications (antibiotics, corticosteroids, immunosuppressants, retinoids and immunobiologicals) and procedures such as botulinum toxin, laser and surgery. There is a lack of controlled clinical trials to support the choice of the best treatment.

Factors associated with non-pathogenic antibodies against desmoglein-3 in pemphigus foliaceus

Abstract Background Anti-desmoglein (Dsg)1 is produced in pemphigus foliaceus (PF), affecting exclusively the skin. Pemphigus vulgaris (PV) shows the production of anti-Dsg3 in the mucosal form, and anti-Dsg1 and 3 in the mucocutaneous form. Anti-Dsg3 autoantibodies have been rarely reported in PF. Objectives To determine the factors associated with the production and pathogenicity of anti-Dsg3 in PF. Methods Comparative analytical study of three patients groups: 16 PF-anti-Dsg3+, and 42 PF-anti-Dsg3(-) and 22 PV treatment-naïve cases. Serum was used in the anti-Dsg1 and 3 ELISA, and in immunoblotting (IB) with human epidermis extract. The expression of Dsg1 and 3 in paraffin sections was analyzed by immunohistochemistry (IHC). HLA-DRB1 alleles were compiled from a database. Results In the PF-anti-Dsg3+ group: age range similar to that of the PV group (p > 0.9999); predominance of the generalized form of PF (p = 0.002); anti-Dsg3 titers lower than those of PV (p < 0.0001); IB confirmed Dsg3 identification in one (8.33%) of 12 patients; IHC showed exclusive cytoplasmic internalization of Dsg1; HLA-DRB1 alleles of susceptibility to PF, with the absence of alleles associated with PV, in the five typed patients. Study limitations Most of the patients in the PF-anti-Dsg3+ group were undergoing treatment. Conclusion The presence of anti-Dsg3 antibodies in PF was related to older age (comparable to that of PV) and the generalized form of PF. The non-pathogenicity of anti-Dsg3 antibodies in PF can be attributed to the low serum anti-Dsg3 titers, the lack of Dsg3 internalization as detected by IHC, and the absence of PV-associated HLA-DRB1 alleles.

New complex cell junctions in and around the intervertebral discs discovered using autoantibodies from patients affected by endemic pemphigus foliaceus in El Bagre, Colombia, South America.

BACKGROUND: Traditionally, the intervertebral disks' (IVD) nucleus pulposus (NP) and annulus fibrosus (AF) are considered to have few cellular components and cell junctions. Patients affected by a new variant of endemic pemphigus foliaceus in El Bagre, Colombia, experience back pain in the spinal areas of the lower and upper back. Here, we investigate the reactivity of the patient's autoantibodies to structures in and around the IVDs at the cellular level. METHODS: We first administered a questionnaire and performed a medical examination. We then tested for autoreactivity against IVDs by indirect immunofluorescence, confocal microscopy, and reflectance confocal microscopy using bovine and human tissues as antigen sources. We tested 45 sera from patients affected by the disease and 45 control sera from the endemic area matched by age, gender, demographics, and work activity. RESULTS: Most of the patient sera revealed polyclonal antibodies against newly discovered cell junctions in the NP and AF, including their translamellar cross-bridges. Additional reactivities were detected against cell junctions in the spinal cord neurons, paraspinal nerves, blood vessels, anterior and posterior longitudinal ligaments, and paraspinal skeletal muscles. The reactivities of the patient's autoantibodies co-localized with those of commercially available antibodies to desmoplakins I-II, armadillo repeat gene deleted in velo-cardio-facial syndrome, plakophilin-4, and myocardium-enriched zonula occludens-1-associated protein (p < 0.001). CONCLUSIONS: We discovered novel complex cell junctions in the IVDs using patients' autoantibodies. These discoveries open a new chapter in the knowledge of IVD, representing a breakthrough pertinent to many diseases.

[Hailey-Hailey disease: A case report]. / Enfermedad de Hailey-Hailey: reporte de un caso.

Background: Hailey-Hailey disease is a rare autosomal dominant genodermatosis whose cause is the ATP2C1 gene mutation. A prevalence of 1 in 50,000 cases is estimated and it manifests as grouped flaccid vesicles that break easily. The diagnosis is confirmed with the histopathological study creating an appearance called "dilapidated brick wall", identifying dyskeratosis in the form of round bodies and pimples. Treatment ranges from general measures to multiple pharmacological options, with topical corticosteroids being the most commonly used. Clinical case: Male patient diagnosed with Hailey-Hailey disease. On physical examination we observed a dermatosis disseminated to the neck, trunk, axillary and inguinal folds, and intergluteal region, unilateral, asymmetric with a polymorphous appearance, constitution due to exulceration, erythema, some pustules and flaccid vesicles that coalesced to form eczematous and hypertrophic plaques with the presence of fine scales on their surface, with a chronic evolution accompanied by pruritus. We also took the opportunity to review the most relevant information in the literature regarding Hailey-Hailey disease, especially focused on the therapeutic aspect. Conclusions: It is important to take into account that Hailey-Hailey disease is a rare pathology, in order to make a differential diagnosis in daily clinical practice.

Introducción: la enfermedad de Hailey-Hailey es una rara genodermatosis autosómica dominante cuya causa es la mutación del gen ATP2C1. Se estima una prevalencia de 1 por cada 50,000 casos y se manifiesta como vesículas flácidas agrupadas que se rompen con facilidad. El diagnóstico se confirma con el estudio histopatológico que crea una apariencia denominada "pared de ladrillo dilapidada" y se identifica disqueratosis en forma de cuerpos redondos y granos. El tratamiento comprende desde medidas generales hasta múltiples opciones farmacológicas y los corticoesteroides tópicos son los más utilizados. Caso clínico: paciente del sexo masculino con diagnóstico de enfermedad de Hailey-Hailey. A la exploración física observamos una dermatosis diseminada a cuello, tronco, pliegues axilares, inguinales y región interglútea, de manera unilateral, asimétrica, de aspecto polimorfo, constituida por exulceración, eritema, algunas pústulas y vesículas flácidas que confluían para formar placas eccematosas e hipertróficas con escama fina, de evolución crónica, acompañada de prurito. Además, aprovechamos la oportunidad para revisar la informacion más relevante en la literatura con respecto a la enfermedad de Hailey-Hailey, especialmente enfocados en el aspecto terapéutico.es importante tener en cuenta que la enfermedad de Hailey-Hailey es una patología rara, a fin de hacer un diagnóstico diferencial en la práctica clínica rutinaria.

shRNA-Targeting Caspase-3 Inhibits Cell Detachment Induced by Pemphigus Vulgaris Autoantibodies in HaCaT Cells.

Pemphigus is an autoimmune disease that affects the skin and mucous membranes, induced by the deposition of pemphigus IgG, which mainly targets desmogleins 1 and 3 (Dsg1 and 3). This autoantibody causes steric interference between Dsg1 and 3 and the loss of cell adhesion, producing acantholysis. This molecule and its cellular effects are clinically reflected as intraepidermal blistering. Pemphigus vulgaris-IgG (PV-IgG) binding involves p38MAPK-signaling-dependent caspase-3 activation. The present work assessed the in vitro effect of PV-IgG on the adherence of HaCaT cells dependent on caspase-3. PV-IgG induced cell detachment and apoptotic changes, as demonstrated by annexin fluorescent assays. The effect of caspase-3 induced by PV-IgG was suppressed in cells pre-treated with caspase-3-shRNA, and normal IgG (N-IgG) as a control had no relevant effects on the aforementioned parameters. The results demonstrated that shRNA reduces caspase-3 expression, as measured via qRT-PCR and via Western blot and immunofluorescence, and increases cell adhesion. In conclusion, shRNA prevented in vitro cell detachment and the late effects of apoptosis induced by PV-IgG on HaCaT cells, furthering our understanding of the molecular role of caspase-3 cell adhesion dependence in pemphigus disease.

Co-occurrence of oral pemphigus vulgaris and herpes simplex virus infection in a young patient with Crohn's disease: report of a rare case of oral lesions during anti-TFN alpha and immunomodulator therapy.

BACKGROUND: Pemphigus vulgaris (PV) is a potentially life-threatening mucocutaneous autoimmune disease that affects desmoglein-1 and desmoglein-3, leading to intraepithelial vesiculobullous lesions. In the oral mucosa, PV lesions can mimic other diseases such as mucous membrane pemphigoid, other forms of pemphigus, recurrent aphthous stomatitis, erythema multiforme, Stevens-Johnson syndrome, and virus-induced ulcers like herpes simplex virus (HSV), making diagnosis challenging. The co-occurrence of PV with Crohn's disease is rare and predominantly seen in younger patients. The therapeutic mainstay for both PV and Crohn's disease usually involves systemic corticosteroids combined with immunosuppressants and immunobiological drugs. Literature indicates that the use of these drugs, particularly TNF-alpha inhibitors, for managing autoimmune diseases like Crohn's can potentially induce other autoimmune diseases known as autoimmune-like syndromes, which include episodes of lupus-like syndrome and inflammatory neuropathies. There are few cases in the literature reporting the development of PV in individuals with CD undergoing infliximab therapy. CASE REPORT: A young female with severe Crohn's disease, treated with the TNF-alpha inhibitor infliximab, developed friable pseudomembranous oral ulcerations. Histopathological and immunofluorescence analyses confirmed these as PV. The treatment included clobetasol propionate and low-level photobiomodulation, which resulted in partial improvement. The patient later experienced severe intestinal bleeding, requiring intravenous hydrocortisone therapy, which improved both her systemic condition and oral lesions. Weeks later, new ulcerations caused by herpes virus and candidiasis were identified, leading to treatment with oral acyclovir, a 21-day regimen of oral nystatin rinse, and photodynamic therapy, ultimately healing the oral infections. To manage her condition, the gastroenterologists included methotrexate (25 mg) in her regimen to reduce the immunogenicity of infliximab and minimize corticosteroid use, as the patient was in remission for Crohn's disease, and the oral PV lesions were under control. CONCLUSION: Young patients with Crohn's disease should be referred to an oral medicine specialist for comorbidity investigation, as oral PV and opportunistic infections can arise during immunosuppressive therapy. The use of TNF-alpha inhibitors in patients treated for inflammatory bowel disease, such as Crohn's, should be carefully evaluated for potential side effects, including oral PV.

Oral Lesions of Immune-Mediated and Autoimmune Diseases: A 12-year Experience at a Single Brazilian Referral Center.

BACKGROUND: Oral lesions of immune-mediated and autoimmune diseases have been well-documented, but studies from Brazil are limited. The varied spectrum of oral lesions within this demographic group poses challenges to clinicians, particularly when they occur in isolation. This study aimed to evaluate the occurrence, clinical characteristics, and management of patients with oral lesions of immune-mediated and autoimmune diseases at a single center in Brazil. METHODS: A retrospective cross-sectional study was conducted from 2010 to 2022. Clinicodemographic data, histopathological features, and treatment modalities were analyzed descriptively and analytically. RESULTS: Of the 3,790 oral and maxillofacial lesions diagnosed, 160 (4.2%) were confirmed as immune-mediated or autoimmune diseases. The population surveyed predominantly consisted of women (73.7%), with a mean age of 60.2 years. Oral lichen planus (51.3%), mucous membrane pemphigoid (MMP) (23.7%), and pemphigus vulgaris (PV) (19.4%) were the most prevalent lesions. The buccal mucosa (59.4%) was predominantly affected, with pain reported in 46.2% of cases, notably in individuals with PV and MMP. The average time to disease stabilization post-local and/or systemic corticosteroid therapy was 15.8 months for systemic lupus erythematosus, 8.7 months for MMP, and 6.5 months for PV. CONCLUSION: Although oral lesions related to immune-mediated and autoimmune diseases are uncommon, their diverse clinicopathological aspects require multidisciplinary management.

Factors associated with non-pathogenic antibodies against desmoglein-3 in pemphigus foliaceus.

BACKGROUND: Anti-desmoglein (Dsg)1 is produced in pemphigus foliaceus (PF), affecting exclusively the skin. Pemphigus vulgaris (PV) shows the production of anti-Dsg3 in the mucosal form, and anti-Dsg1 and 3 in the mucocutaneous form. Anti-Dsg3 autoantibodies have been rarely reported in PF. OBJECTIVES: To determine the factors associated with the production and pathogenicity of anti-Dsg3 in PF. METHODS: Comparative analytical study of three patients groups: 16 PF-anti-Dsg3+, and 42 PF-anti-Dsg3(-) and 22 PV treatment-naïve cases. Serum was used in the anti-Dsg1 and 3 ELISA, and in immunoblotting (IB) with human epidermis extract. The expression of Dsg1 and 3 in paraffin sections was analyzed by immunohistochemistry (IHC). HLA-DRB1 alleles were compiled from a database. RESULTS: In the PF-anti-Dsg3+ group: age range similar to that of the PV group (p > 0.9999); predominance of the generalized form of PF (p = 0.002); anti-Dsg3 titers lower than those of PV (p < 0.0001); IB confirmed Dsg3 identification in one (8.33%) of 12 patients; IHC showed exclusive cytoplasmic internalization of Dsg1; HLA-DRB1 alleles of susceptibility to PF, with the absence of alleles associated with PV, in the five typed patients. STUDY LIMITATIONS: Most of the patients in the PF-anti-Dsg3+ group were undergoing treatment. CONCLUSION: The presence of anti-Dsg3 antibodies in PF was related to older age (comparable to that of PV) and the generalized form of PF. The non-pathogenicity of anti-Dsg3 antibodies in PF can be attributed to the low serum anti-Dsg3 titers, the lack of Dsg3 internalization as detected by IHC, and the absence of PV-associated HLA-DRB1 alleles.

Pemphigus vulgaris versus Mucous Membrane Pemphigoid: Case Series

Pemphigus vulgaris (PV) and mucous membrane pemphigoid (MMP) are bullous autoimmune diseases that reach the oral mucosa and have common clinical features. The objective of the study was to present and compare the clinical manifestations of PV and MMP and the results of applied treatments. A case series of a stomatology service from 1985 to 2018. Data collection included epidemiological data, comorbidities, medications in use, duration of symptoms before the first visit, previous treatment, symptomatology, clinical description of lesions, presumptive diagnosis, histopathological description, extraoral manifestations, final diagnosis, treatment and follow-up. The medical records of 25 patients were analysed, 19 of whom were diagnosed with MMP and 6 with PV. The female gender was prevalent in MMP (84 %) and the male gender in PV (67 %). More than 60 % of patients complained of pain at their first visit. Patients with MMP took on average 6 months to seek professional help and patients with PV, about 2 months. Desquamative gingivitis was the most common lesion (63 %) in MMP and non-gingival ulcers (67 %) in PV. Minimal therapy was effective in all cases of MMP, and in PV one individual required minimal adjuvant therapy due to worsening of the case. Patients with PV have more intense signs and oral symptoms and may need more intensive treatment than patients with MMP. The use of topical and/or systemic corticosteroids was sufficient for most cases in both diseases.

Pénfigo vulgar (PV) y Penfigoide de la Membrana Mucosa (PMM) son enfermadades autoinmunes ampollosas que llegan a la mucosa oral y tienen características clínicas comunes. El objetivo de este estudio fue presentar y comparar las manifestaciones clínicas de PV y PMM y los resultados de los tratamientos aplicados. En el análisis se incluyó una serie de casos de un servicio de estomatología de 1985 a 2018. La recolección de información incluyó datos epidemiológicos, comorbilidades, medicamentos en uso, duración de los síntomas antes de la primera visita, tratamientos previos, sintomatología, descripción clínica de las lesiones, diagnóstico presuntivo, descripción histopatológica, manifestaciones extraorales, diagnóstico final, tratamiento y seguimiento. Se analizaron las historias clínicas de 25 pacientes, 19 de los cuales fueron diagnosticados de PMM y 6 de PV. El sexo feminino fue prevalente en PMM (84 %) y el sexo masculino en PV (67 %). Más del 60 % de los pacientes se quejaron de dolor durante la primera consulta. Los pacientes con PMM tardaron en promedio 6 meses en buscar ayuda profesional y los pacientes con PV, alrededor de 2 meses. La gingivitis descamativa fue la lesion más común (63 %) en PMM y las úlceras non gengivales (67 %) en PV. La terapia mínima fue efectiva en todos los casos de PMM, y en PV un individuo requirió terapia adyuvante mínima debido al empeoramiento del caso. Los pacientes con PV tienen signos y síntomas orales más intensos y pueden necesitar un tratamiento más intensivo que los pacientes con PMM. El uso de corticosteroides tópicos y/o sistémicos fue suficiente para la mayoría de los casos en ambas enfermedades.

Hailey-Hailey disease: clinical, diagnostic and therapeutic update.

Hailey-Hailey disease is a rare genodermatosis described in 1939, with an autosomal dominant inheritance pattern, characterized by compromised adhesion between epidermal keratinocytes. It has an estimated prevalence of 1/50,000, with no gender or race predilection. It results from a heterozygous mutation in the ATP2C1 gene, which encodes the transmembrane protein hSPA1C, present in all tissues, with preferential expression in keratinocytes. Mutations in the ATP2C1 gene cause changes in the synthesis of junctional proteins, leading to acantholysis. It usually begins in adulthood, with isolated cases at the extremes of life. It manifests as vesico-bullous lesions mainly in the flexural areas, which develop into erosions and crusts. Chronic lesions may form vegetative or verrucous plaques. Pruritus, a burning feeling and pain are common. It evolves with periods of remission and exacerbation, generally triggered by humidity, friction, heat, trauma and secondary infections. The diagnosis is based on clinical and histopathological criteria: marked suprabasal acantholysis, loosely joined keratinocytes, giving the appearance of a "dilapidated brick wall", with a few dyskeratotic cells. The acantholysis affects the epidermis and spares the adnexal epithelia, which helps in the differential diagnosis with pemphigus vulgaris. Direct immunofluorescence is negative. The main differential diagnoses are Darier disease, pemphigus vegetans, intertrigo, contact dermatitis, and inverse psoriasis. There is no cure and the treatment is challenging, including measures to control heat, sweat and friction, topical medications (corticosteroids, calcineurin inhibitors, antibiotics), systemic medications (antibiotics, corticosteroids, immunosuppressants, retinoids and immunobiologicals) and procedures such as botulinum toxin, laser and surgery. There is a lack of controlled clinical trials to support the choice of the best treatment.

Eye and lid involvement as an uncommon feature of pemphigus foliaceus in a pediatric patient.

Pemphigus foliaceus (PF) is an autoimmune blistering disorder which affects the superficial layers of the epidermis with rare mucosal involvement. We present the case of a 12-year-old girl with PF involving the eyes and eyelids. A literature review of pediatric nonendemic PF revealed another two cases with ocular manifestations. Eyelid involvement is an uncommon feature of PF that should be properly identified and treated.

A Global View of Pemphigus: Geographical Variations.

Pemphigus, an autoimmune intraepidermal bullous disease group with roughly eight distinct forms, includes pemphigus vulgaris (PV) and pemphigus foliaceus (PF) as its predominant global forms. Despite the increased utilization of global health records and reporting systems, epidemiological data remain limited and poorly categorized. Therefore, this study aimed to conduct a review to track, identify, and characterize cases of PV and PF published and categorized worldwide. A research question was formulated; studies were selected based on the inclusion criteria; and data from these publications were systematically collected, summarized, and presented using narrative descriptions. The search strategy yielded 3,212 articles, of which 95 underwent critical analysis and data extraction. Studies from 52 countries contributed to the dataset, covering various pemphigus variants. Notably, only two countries, Iran (18.87%) and South Korea (11.43%), accounted for approximately a third of the reported PV cases, while Brazil contributed 40.25% of the foliaceus variants cases documented in the literature. These findings offer valuable insights into the global distribution of pemphigus and inform future research and healthcare efforts.

Epidemiological and clinical study of cases of endemic pemphigus foliaceus and pemphigus vulgaris in a reference center in the state of Minas Gerais, Brazil

Abstract Background: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. Objective: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. Methods: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. Results: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (p = 0.001), patient occupation (p = 0.010), area of residence (p = 0.000), forests (p = 0.000) and rivers/streams close to the dwelling (p = 0.001) and the number of systemic medications required to control the disease (p = 0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (p = 0.030). Study limitations: The assessed population comes from a tertiary care service that is not a reference for the entire state. Conclusions: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.

Epidemiological and clinical study of cases of endemic pemphigus foliaceus and pemphigus vulgaris in a reference center in the state of Minas Gerais, Brazil.

BACKGROUND: Pemphigus constitutes a group of autoimmune bullous diseases. A reduction in the incidence of endemic pemphigus foliaceus and an increase in pemphigus vulgaris has been described, but there are no studies in Minas Gerais that address the subject. OBJECTIVE: To describe the epidemiological and clinical profile of patients with pemphigus treated at the Dermatology Service of a public University Hospital in the state of Minas Gerais, Brazil. METHODS: An observational, descriptive, and cross-sectional study was carried out of cases of endemic pemphigus foliaceus and pemphigus vulgaris, for a period of six months. A questionnaire was filled out with epidemiological and clinical data on the disease. RESULTS: A total of 122 patients were included in the study, 64 with endemic pemphigus foliaceus and 58 with pemphigus vulgaris. When comparing patients with endemic pemphigus foliaceus and those with pemphigus vulgaris, a statistical difference was observed between the median age of initial disease manifestation (p = 0.001), patient occupation (p = 0.010), area of residence (p = 0.000), forests (p = 0.000) and rivers/streams close to the dwelling (p = 0.001) and the number of systemic medications required to control the disease (p = 0.002). When comparing patients with endemic pemphigus foliaceus to those evaluated in a study carried out at the same service in 2008, there was a statistical difference in the area of residence (p = 0.030). STUDY LIMITATIONS: The assessed population comes from a tertiary care service that is not a reference for the entire state. CONCLUSIONS: Patients with endemic pemphigus foliaceus and pemphigus vulgaris maintain statistically significant differences regarding their main variables in the literature, such as age and area of residence. Historically, there has been a reduction in cases of endemic pemphigus foliaceus and an increase in cases of pemphigus vulgaris in this population.

Factors Associated with Candidiasis in Pemphigus Vulgaris Patients: Results from a Retrospective Study in Two Second-Care Level Hospitals in Mexico.

BACKGROUND: Infections are a major cause of morbidity and mortality in patients with pemphigus vulgaris (PV). One of the most common infections in these patients is candidiasis. This is probably due to the use of systemic immunosuppressants, including oral and intravenous corticosteroids, mainly in megadoses (pulse therapy), although it is unknown if there are other associated factors, in addition to immunosuppressive treatment. We determine the factors associated with candidiasis in PV patients in two second-care level hospitals in Mexico. METHODS: We reviewed 100 cases with PV. Cases were randomly selected from the databases of two second-care level hospitals between January 2010 and December 2019 (10 years). The primary endpoint was the incidence of candidiasis in patients with PV. RESULTS: One hundred patients with PV were enrolled in this retrospective study. Candidiasis was observed in 79 patients (79%). A maximum corticosteroid dose of 55 mg/day during the last year (p = 0.001) and a higher neutrophil/lymphocyte ratio were associated with candidiasis in patients with PV (p = 0.001). CONCLUSION: Risk factors favoring candidiasis in patients with PV are not only related to the use of corticosteroids, but also to demographic factors, the activity of the disease, and the systemic inflammation associated with autoimmunity.

Manifestações bucais e diagnóstico precoce do pênfigo vulgar: relato de caso / Oral manifestations and early diagnosis of pemphigus vulgaris: a case report / Manifestaciones orales y diagnóstico precoz del pénfigo vulgar: informe de un caso

O pênfigo vulgar (PV) é uma doença autoimune que acomete o tecido epitelial dos indivíduos afetados. As manifestações orais são frequentemente os primeiros sinais observados da doença. Objetivou-se apresentar um caso clínico de pênfigo vulgar em uma paciente de 39 anos de idade, atendida em um serviço hospitalar de referência do estado de Pernambuco, Brasil. A paciente queixava-se de lesões dolorosas na cavidade bucal há aproximadamente 1 mês, de progressão rápida. Ao exame clínico intrabucal, realizou-se o teste de Nikolsky, com resultado positivo. Em seguida, realizou-se biópsia incisional, confirmando a hipótese diagnóstica clínica de PV. A paciente recebeu o tratamento multiprofissional e foi medicada para o controle da doença, com melhora significativa do quadro clínico. O diagnóstico precoce da doença pelo profissional é importante, seguida de uma abordagem multiprofissional para um correto diagnóstico da patologia, possibilitando remissão da sintomatologia e melhora da qualidade de vida dos pacientes... (AU)

Pemphigus vulgaris (PV) is an autoimmune disease that affects the epithelial tissue of affected individuals. Oral manifestations are often the first signs observed of the disease. We aimed to present a clinical case of pemphigus vulgaris in a 39-year-old patient seen at a reference hospital service in the state of Pernambuco, Brazil. The patient complained of painful lesions in the oral cavity for about 1 month, with rapid progression. Upon intraoral clinical examination, the Nikolsky test was performed, with a positive result. An incisional biopsy was then performed, confirming the clinical diagnosis of PV. The patient received multiprofessional treatment and was medicated to control the disease, with significant improvement in the clinical picture. The early diagnosis of the disease by the professional is important, followed by a multiprofessional approach for a correct diagnosis of the pathology, enabling remission of the symptoms and improving the quality of life of patients... (AU)

El pénfigo vulgar (PV) es una enfermedad autoinmune que afecta al tejido epitelial de los individuos afectados. Las manifestaciones orales suelen ser los primeros síntomas observados de la enfermedad. El objetivo es presentar un caso clínico de pénfigo vulgar en una paciente de 39 años de edad, atendida en un servicio hospitalario de referencia del estado de Pernambuco, Brasil. El paciente se quejaba de lesiones dolorosas en la cavidad oral desde hacía aproximadamente un mes, con una rápida progresión. Tras el examen clínico intraoral, se realizó la prueba de Nikolsky, con resultados positivos. Posteriormente, se realizó una biopsia incisional que confirmó el diagnóstico clínico de PV. El paciente recibió tratamiento multiprofesional y fue medicado para controlar la enfermedad, con una mejora significativa del cuadro clínico. Es importante el diagnóstico precoz de la enfermedad por parte del profesional, seguido de un abordaje multiprofesional para un correcto diagnóstico de la patología, que permita la remisión de los síntomas y la mejora de la calidad de vida de los pacientes... (AU)

[Senear-Usher syndrome (seborrheic pemphigus): An exceptional case]. / Síndrome de Senear-Usher (pénfigo seborreico): un caso excepcional.

BACKGROUND: Among the autoimmune diseases causing erosive lesions and blisters on skin and mucous membranes is pemphigus. Within this is a rare subtype known as seborrheic pemphigus or Senear-usher syndrome which is characterized by broken blisters and crusts involving the seborrheic areas. CASE REPORT: A 40-year-old female patient, initially treated in a first level unit for a condition of 45 days of evolution, characterized by thick scabby lesions with an erythematous base, pruritic and painful, located in the center of the face, with posterior extension towards the abdomen, thorax, and extremities. Treatment consisted of prednisolone, with favorable evolution. The biopsy of the lesions with the diagnosis of seborrheic pemphigus. CONCLUSIONS: Senear-usher syndrome is a rare disease of multifactorial origin. Early diagnosis and adequate treatment are decisive factors to avoid the evolution and advanced forms of the disease.

ANTECEDENTES: Dentro de las enfermedades autoinmunes que provocan lesiones erosivas y ampollas en la piel y las mucosas se encuentra el pénfigo. Un subtipo raro de esta enfermedad es el pénfigo seborreico, o síndrome de Senar-Usher, caracterizado por ampollas rotas y costras que afectan las áreas corporales que secretan grasa. REPORTE DE CASO: Paciente femenina de 40 años, atendida inicialmente en una unidad de primer nivel por un cuadro de 45 días de evolución, caracterizado por lesiones costrosas gruesas de base eritematosa, pruriginosas y dolorosas, de localización centro-facial, con posterior extensión hacia el abdomen, tórax y extremidades. El tratamiento consistió en prednisolona, con evolución favorable. La biopsia de las lesiones confirmó el diagnóstico de pénfigo seborreico. CONCLUSIONES: El síndrome de Senear-Usher, o pénfigo seborreico, es una enfermedad excepcional, de origen multifactorial. El diagnóstico oportuno y tratamiento adecuado son factores decisivos para evitar la evolución de la enfermedad a formas avanzadas.