ABSTRACT
Resumen La enfermedad de Hailey-Hailey, también llamada pénfigo familiar benigno, corresponde a una genodermatosis debilitante que se transmite mediante un patrón autosómico dominante, con una prevalencia de alrededor de 1 en 50.000 casos. El reporte de antecedentes familiares está presente hasta en 60 % de los pacientes. Se caracteriza por la presencia de vesículas crónicas y recurrentes, erosiones y exulceraciones en zonas de flexura. El tratamiento puede representar un reto, porque a pesar del manejo con terapias tópicas, corticosteroides sistémicos, inmunomoduladores sistémicos y el empleo de láser, ninguna terapia ha logrado una remisión a largo plazo. Se presenta el caso de un paciente masculino, adulto medio, sin antecedente familiar alguno, con historia de placas de superficie descamativa y hematocostras recurrentes crónicas y presentación clínica atípica, dada la localización de lesiones predominantes en miembros superiores, con sospecha inicial de psoriasis vulgar, con posterior toma de biopsia y reporte de patología que evidencia histológia típica de PBF. Por lo cual se indica manejo con corticosteroides sistémicos, sin evidencia de reacciones adversas y con remisión a largo plazo. MÉD.UIS.2020;34(1):101-6
Abstract Hailey-Hailey disease, also called benign familial pemphigus, corresponds to a debilitating genodermatosis that is transmitted through an autosomal dominant pattern, with a prevalence of around 1 in 50,000 cases. The family history report is present in up to 60% of patients. It is characterized by the presence of chronic and recurrent vesicles, erosions and exulcerations in flexural areas. Treatment can be challenging, because despite management with topical therapies, systemic corticosteroids, systemic immunomodulators, and the use of lasers, no therapy has achieved long-term remission.We present the case of a male patient, middle adult, without any family history, with a history of scaly surface plaques and chronic recurrent hematocostras and atypical clinical presentation given the location of predominant lesions in the upper limbs, with initial suspicion of vulgar psoriasis, with subsequent biopsy and pathology report showing typical PBF histology. Therefore, management with systemic corticosteroids without evidence of adverse reactions and with long-term remission is indicated. MÉD.UIS.2020;34(1):101-6
Subject(s)
Humans , Male , Middle Aged , Pemphigus, Benign Familial , Therapeutics , Acantholysis , Adrenal Cortex HormonesABSTRACT
@#Hailey-Hailey disease (HHD) is an uncommon acantholytic disorder of the skin. This is a case of a 64-year-old Filipino female with a chronic history of painful and malodorous intertriginous plaques. Histopathologic evaluation showed overlapping features of pemphigus vulgaris and Hailey-Hailey disease. A negative direct immunofluorescence test clinched the diagnosis of Hailey-Hailey disease. The patient was advised regarding preventive measures and treated with topical antibiotics and corticosteroids with improvement of her lesions.
Subject(s)
Pemphigus, Benign Familial , Fluorescent Antibody Technique, DirectABSTRACT
Las enfermedades perianales del adulto, de carácter no infeccioso y no neoplásico, son un motivo de consulta poco frecuente. Se caracterizan por la variedad de su etiología y de su sintomatología clínica, y plantean dificultad en el diagnóstico y en la terapéutica. El objetivo del presente trabajo es abordar una patología que plantea la necesidad de una intervención interdisciplinaria. Se incluyen consideraciones anatomopatológicas, clínicas y terapéuticas. (AU)
Noninfectious, non- neoplasic perianal affections are uncommon diseases. They are characterized by the variety of the etiology and clinical symptomatology, posing difficulty in diagnosis and therapeutics. The objective of this paper is to address a pathology that raises the need for interdisciplinary intervention anatomopathological, clinical and therapeutic considerations are included. (AU)
Subject(s)
Humans , Adult , Anus Diseases/diagnosis , Anus Diseases/therapy , Patient Care Team , Skin Diseases, Vesiculobullous/diagnosis , Skin Diseases, Vesiculobullous/therapy , Dermatitis Herpetiformis/diagnosis , Dermatitis Herpetiformis/therapy , Pemphigoid, Benign Mucous Membrane/diagnosis , Pemphigoid, Benign Mucous Membrane/therapy , Pemphigus/diagnosis , Pemphigus/therapy , Stevens-Johnson Syndrome/diagnosis , Stevens-Johnson Syndrome/therapy , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/therapy , Dermatitis, Contact/diagnosis , Dermatitis, Contact/therapyABSTRACT
Abstract Hailey-Hailey disease, or familial benign pemphigus, is a rare bullous genodermatosis that usually presents with flaccid blisters, erosions, and maceration limited to flexural areas, resulting in increased morbidity and reduced quality of life for affected patients. The authors report an unusual case of generalized Hailey-Hailey disease with erythroderma and fatal outcome.
Subject(s)
Humans , Female , Pemphigus, Benign Familial/pathology , Dermatitis, Exfoliative/pathology , Acantholysis/pathology , Pemphigus, Benign Familial/complications , Pemphigus, Benign Familial/drug therapy , Dermatitis, Exfoliative/complications , Dermatitis, Exfoliative/drug therapy , Fatal Outcome , Catheter-Related Infections , Middle AgedABSTRACT
INTRODUCCIÓN: Las enfermedades acatólicas son un grupo heterogéneo de enfermedades que presentan como característica central histopatológica la acantosis. Generalmente presentan un curso de evolución crónica y recidivante, con variadas manifestaciones clínicas. OBJETIVO: caracterizar los pacientes con diagnóstico de enfermedad acantolítica, bajo 5 criterios clínicos y realizar una revisión de la literatura. MÉTODOS: Se realizó una revisión de la base de datos del Servicio Anatomía Patológica del Hospital San Borja Arriaran (HSBA) entre los años 2007 y 2017 y se complementaron con los antecedentes clínicos extraídos de las fichas clínicas.RESULTADOS: Se obtuvo un total de 13 casos. el 53,8% correspondieron a enfermedad de Darier, 20,6% a enfermedad de Hailey-Hailey y un 20,6% a enfermedad de Grover, obteniendo un promedio de edad al momento del diagnóstico de 22,5 años, 44,3 años y 47,6 años respectivamente. Los antecedentes familiares estuvieron presentes en el 53,8% del total de pacientes, ninguno de ellos presentaba estudio genético. El 61,5% de la muestra correspondió a pacientes de sexo femenino y el promedio de años de evolución previo al diagnóstico fue de 7,4 años para Darier, 8,6 para Hailey-Hailey y para Grover. El 100% de los pacientes con enfermedad de Darier y Grover estaban con terapia sistémica y el 66,6% de enfermedad de Hailey-Hailey con terapia tópica, todos con adecuada respuesta clínica. DISCUSIÓN y conclusiones: las enfermedades acantolíticas corresponden a genodermatosis poco frecuente cuyo diagnóstico y tratamiento constitu-yen un desafío para el dermatólogo
INTRODUCTION: Atytolic diseases are a heterogeneous group of diseases that present acanthosis as a histopathological central characteristic. They usually present a course of chronic and recurrent evolution, with varied clinical manifestations. OBJECTIVE: to characterize the patients diagnosed with acantholytic disease, with 5 clinical criteria and to carry out a review of the literature. METHODS: A review of the database of the Pathological Anatomy Service of the San Bor-ja Arriaran Hospital (HSBA) between 2007 and 2017 was carried out and complemented with the clinical records extracted from the clinical files. RESULTS: A total of 13 cases were obtained. 53.8% corresponded to Darier's disease, 20.6% to Hailey-Hailey's disease and 20.6% to Grover's disease, obtaining an average age at diagnosis of 22.5 years, 44.3 years and 47.6 years respectively. Family history was present in 53.8% of the to-tal patients, none of them had a genetic study. 61.5% of the sample corresponded to female patients and the average of years of evolution prior to diagnosis was 7.4 years for Darier, 8.6 for Hailey-Hailey and for Grover. 100% of the pa-tients with Darier and Grover's disease were on systemic therapy and 66.6% of Hailey-Hailey's disease with topical therapy, all with adequate clinical response. DISCUSSION AND CONCLUSIONS: acantholytic diseases correspond to rare genodermatosis whose diagnosis and treatment constitute a challenge for the dermatologist.
Subject(s)
Humans , Male , Female , Child , Adolescent , Adult , Middle Aged , Aged , Acantholysis/epidemiology , Pemphigus, Benign Familial/epidemiology , Ichthyosis/epidemiology , Darier Disease/epidemiology , Chile , Retrospective Studies , Acantholysis/diagnosis , Pemphigus, Benign Familial/diagnosis , Ichthyosis/diagnosis , Darier Disease/diagnosisABSTRACT
Introducción y objetivo: El pénfigo es una enfermedad autoinmune dermatológica que pro-duce lesiones ampollosas por la acción de anticuerpos contra proteínas en los desmosomas, provocando pérdida de la cohesión de las células epidérmicas, generando múltiples manifesta-ciones dermatológicas. El objetivo es describir una serie de pacientes con pénfigo valorados por dermatología. Métodos: Estudio observacional, descriptivo de corte transversal retrospectivo.
Subject(s)
Pemphigus , Pemphigus, Benign FamilialABSTRACT
El pénfigo familiar benigno o enfermedad de Hailey Hailey, es una genodermatosis vesico-ampollar autosómica dominante, con penetrancia incompleta y expresividad variable de presentación infrecuente. Se presenta el caso de un paciente con un cuadro de cinco años de evolución, caracterizado por lesiones vesiculares intertriginosas, de olor desagradable, con mala respuesta al tratamiento tópico con antifúngicos y corticoides. Se realiza biopsia de piel compatible con pénfigo de Hailey Hailey, el que fue manejado con antibióticoterapia y corticoides sistémicos, evolucionando favorablemente.
The benign familial pemphigus or Hailey Hailey´s disease is a rare autosomal dominant disorder. We present the clinical case of a patient with a five years history, characterized by vesicular intertriginous malodorous lesions with poor response to topical antifungal therapy. Skin biopsy it was compatible with Hailey Hailey´s disease which was managed with antibiotic therapy and systemic corticosteroids. The patient evolved favorably.
Subject(s)
Humans , Male , Aged , Pemphigus, Benign Familial/pathology , Intertrigo/pathology , Skin/pathology , Biopsy , Chronic Disease , Pemphigus, Benign Familial/diagnosis , Diagnosis, Differential , Intertrigo/diagnosisABSTRACT
Papular acantholytic dyskeratosis is a collection of papular skin lesions that occur in the intertriginous and genital area. They show a characteristic histology of focal suprabasal acantholysis that distinguishes it from Hailey-Hailey disease or Darier disease. We describe a 50-year-old man with an asymptomatic papular eruption on the perianal area for several years. Histologically, a biopsy specimen showed diffuse hyperkeratosis and irregular acantholysis throughout the epidermis. We used carbon dioxide laser therapy as a therapeutic option. Despite causing a long and painful healing process, a considerable reduction of the symptoms was achieved. Although we do not know the precise nature or the incidence of this disease, papular acantholytic dyskeratosis should be included in the differential diagnosis of verrucous papules in perineal or perianal areas and carbon dioxide laser may represent a good therapeutic option.
Subject(s)
Humans , Middle Aged , Acantholysis , Biopsy , Carbon Dioxide , Carbon , Darier Disease , Diagnosis, Differential , Epidermis , Incidence , Lasers, Gas , Pemphigus, Benign Familial , SkinABSTRACT
Introducción: La enfermedad de Hailey-Hailey (pénfigo crónico familiar benigno) es una dermatosis ampollar, de evolución crónica, recidivante, autosómica dominante, de penetrancia y expresividad variables, localizada predominantemente en los pliegues. Métodos: Se realizó una revisión de la base de datos del Servicio Anatomía Patológica del Hospital Clínico Universidad de Chile (HCUCH) entre los años 2001 y 2016 y se complementaron con los antecedentes clínicos extraídos de las fichas clínicas. Resultados: Se obtuvo un total de 6 casos ilustrativos de la patología en estudio. Discusión y conclusiones: La enfermedad de Hailey-Hailey es una genodermatosis poco frecuente cuyo diagnóstico y tratamiento constituyen un desafío para el dermatólogo.
Background: The Hailey-Hailey disease (familial benign chronic pemphigus) is a bullous dermatosis, with chronic and recurrent evolution, autosomal dominant with variable penetrance and expressivity, localized predominantly in the folds. Methods: A review of the database of the Anatomic Pathology Service of the Hospital Clínico Universidad de Chile (HCUCH) between 2001 and 2016 was carried out and supplemented with the clinical history extracted from the clinical records. Results: A total of 6 illustrative cases of the pathology under study were obtained. Discussion and conclusions: Hailey-Hailey's disease is a rare genodermatosis whose diagnosis and treatment is a challenge for the dermatologist.
Subject(s)
Humans , Male , Female , Middle Aged , Aged , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/therapy , Pemphigus, Benign Familial/epidemiology , Biopsy , Treatment Outcome , Sex Distribution , Age DistributionABSTRACT
El pénfigo familiar benigno (Enfermedad de Hailey-Hailey) es una rara genodermatosis localizada en pliegues, que cursa en brotes con ardor y prurito localizado predominantemente en verano. Presentamos dos pacientes con Enfermedad de Hailey-Hailey de diagnóstico tardío(AU)
Benign familial pemphigus (Hailey-Hailey disease) is a rare genodermatosis located in folds, which presents in outbreaks with burning and itching predominantly in summer. Two patients with Hailey-Hailey disease of late diagnosis are reported (AU)
Subject(s)
Humans , Male , Female , Adult , Pemphigus, Benign Familial/diagnosis , Adrenal Cortex Hormones/therapeutic use , Calcineurin Inhibitors/therapeutic use , Diagnosis, Differential , Pemphigus, Benign Familial/pathology , TherapeuticsABSTRACT
No abstract available.
Subject(s)
Aminolevulinic Acid , Pemphigus, Benign Familial , PhotochemotherapyABSTRACT
O objetivo deste trabalho é relatar o caso de mulher, 44 anos, branca (fototipo 3), apresentando placas eritemato-violáceas com vesículas rompidas, maceração e odor intenso e desagradável em ambas as axilas e região inguinal, com início há dez anos. Foi diagnosticado Pênfigo Crônico Familiar Benigno ou doença de Hailey-Hailey, uma genodermatose autossômica dominante rara desencadeada por mutação no cromossomo 3q21-24 (AU)
The aim of this study is to report the case of a 44-year-old white (skin type 3) woman presenting with erythematous-violaceous plaques with ruptured vesicles, maceration, and intense and unpleasant odor in both armpits and groin, starting ten years ago. Benign familial chronic pemphigus, or Hailey-Hailey disease, a rare autosomal dominant genodermatosis triggered by a mutation on chromosome 3q21-24, was diagnosed (AU)
Subject(s)
Humans , Female , Adult , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/drug therapyABSTRACT
El pénfigo benigno familiar o enfermedad de Hailey-Hailey es una genodermatosis ampollar, de evolución crónica, recidivante y de etiología desconocida. Se observa con mayor frecuencia en las áreas de pliegues. Las lesiones se caracterizan por ser ampollares, con contenido seroso que evolucionan a costras. En la histología se evidencia acantólisis suprabasal y separación de los queratinocitos por destrucción de los desmosomas. No hay un tratamiento específico. Se presentan dos casos para el aporte del conocimiento de esta enfermedad.
The pemphigus benign familial or Hailey-Hailey disease is genodermatosis a blistering, chronic evolution, ethology recurrent and unknown. Seen most commonly in the areas of folds. The lesions are characterized by bullous serous content evolve at scabs. Histology in suprabasal acantholysis evidence and separation of keratinocytes by destruction of desmosomes. There is no specific treatment. Below are two cases for the contribution of knowledge of this disease.
Subject(s)
Humans , Male , Adult , Female , Medical Illustration , Pemphigus, Benign Familial , Pemphigus, Benign Familial/diagnosis , Pemphigus, Benign Familial/pathology , Pemphigus, Benign Familial/therapyABSTRACT
La enfermedad de Hailey-Hailey es una enfermedad ampollar poco frecuente y recurrente. Existen múltiples terapéuticas para esta patología, siendo agentes de primera línea los antibióticos, corticoides y antifúngicos tópicos y orales. Se describe el caso de una mujer de 37 años de edad, que presenta placas erosivas y verrugosas en zonas intertriginosas de 15 años de evolución; con buena respuesta terapéutica a tacrolimus 0,1%.
The Haiiey-Hailey disease is a rare disease and recurrent blistering, There are many therapies for this condition, with first-line agents antibiotics, corticosteroids and topical and oral antifungal. We describe the case of a 37 year old having erosive and warty plaques in intertriginous areas 15 years of evolution, with good therapeutic response to tacrolimus 0,1%.