ABSTRACT
La enfermedad de Hailey-Hailey (EHH) también conocida como pénfigo crónico familiar benigno (PCFB), es una genodermatosis muy infrecuente sin predilección de sexos; se caracteriza por ampollas y vesículas fláccidas, pruriginosas y dolorosas, localizadas en áreas intertriginosas. El diagnóstico suele tardarse debido a la diversidad de su presentación clínica. Presentamos el caso atípico de un paciente de 86 años de edad, que presentaba hace seis meses vesículas dolorosas erosionadas en cuello, axilas, ingles y mucosa oral; tratado anteriormente con corticoides, sin cambios, motivo por el que se hace biopsia de las lesiones, siendo la histopatología compatible con la enfermedad de Hailey-Hailey.
Hailey-Hailey disease or familial benign chronic pemphigus, is a very rare genodermatosis, autosomal dominant inheritance, has no sex and race predilection. It is caused by mutations in the ATP2C1 gene, which causes dysfunction calcium channel, key in regulating epidermal differentiation and processing desmosomal proteins involved in cell adhesion, as a result there is a defect in adherence of keratinocytes and acantholysis occurs and generating alterations in the epidermis. It´s clinical manifestations are characterized by flaccid, pruritic and painful ampules and vesicles located in intertriginous areas and rarely in mucosas; chronic and recurrent evolution. We report the unusual case of a male patient aged 86, presenting six months ago eroded and painful vesicles on the neck, armpits, groin and oral mucosa; previously treated with corticosteroids, unimproved, whereby lesions are biopsied, being histopathology compatible with Hailey-Hailey disease.
ABSTRACT
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
La enfermedad de Hailey-Hailey es un trastorno autosómico dominante, caracterizado por acantólisis de los queratinocitos. Se produce por mutaciones en el gen ATP2C1, que codifica la bomba de Ca++/Mn++ del aparato de Golgi. Clínicamente, se presenta como placas eritematosas con erosiones y fisuras principalmente en pliegues. Es una enfermedad crónica que cursa en brotes. No existen tratamientos específicos ni totalmente efectivos. Se utilizan corticoides y antibióticos tópicos, terapias sistémicas, quirúrgicas y físicas. Se presenta el caso de una paciente con enfermedad auto-limitada y otra, con lesiones extensas con mala adherencia al tratamiento y poca respuesta al mismo.
Hailey-Hailey disease is an autosomal dominant disorder characterized by acantholysis. It is caused by mutations of ATP2C1 gene encoding the secretory pathway Ca++/Mn++ ATPase localized in Golgi apparatus. It usually presents as erythematous, erosive plaques with fissures at folds and sites of friction. The course is chronic, with relapses and remissions. Treatment options are neither specific nor totally effective for this disease. Topical corticosteroids in combination with antibiotics, systemic, surgical and physical therapy can be used. We report a female patient with self-limited disorder and another one with extensive disease, poor adherence and little response to treatment.
ABSTRACT
The ATP2C1 gene mutation in one case of familial benign chronic pemphigus was investigated.One patient was diagnosed as familial benign chronic pemphigus by pathology, ultrastructral examination and clinical features. Genomic DNA was extracted from blood samples. Mutation of ATP2C1 gene was detected by polymerase chain reaction (PCR) and DNA sequencing. The results showed that deletion mutation was detected in ATP2C1 gene in this patient, which was 2374delTTTG. No mutation was found in the family members and normal individuals. It was concluded that the 2374delTTTG mutation in ATP2C1 gene was the specific mutation for the clinical phenotype for this patient and was a de novo mutation.
ABSTRACT
Familial benign pemphigus is a skin disease with recurrent blistering lesions, mainly in the neck and intertriginous areas. The course of the disease is characterized by spontaneous exacerbations and remissions. The many remedies for this disorder include topical and systemic glucocorticosteroids, and antibacterial and antimycotic agents. However, these therapies usually do not prolong the remission periods. Surgical treatments, such as skin graft, have been more successful. Laser treatment has reported to be effective in recurrent familial benign chronic phemphigus. Here we report a case of familial benign chronic phemphigus that was treated with carbin dioxide laser.
Subject(s)
Blister , Carbon Dioxide , Carbon , Lasers, Gas , Neck , Pemphigus , Pemphigus, Benign Familial , Skin , Skin Diseases , TransplantsABSTRACT
Familial benign pemphigus is a skin disease with recurrent blistering lesions, mainly in the neck and intertriginous areas. The course of the disease is characterized by spontaneous exacerbations and remissions. The many remedies for this disorder include topical and systemic glucocorticosteroids, and antibacterial and antimycotic agents. However, these therapies usually do not prolong the remission periods. Surgical treatments, such as skin graft, have been more successful. Laser treatment has reported to be effective in recurrent familial benign chronic phemphigus. Here we report a case of familial benign chronic phemphigus that was treated with carbin dioxide laser.
Subject(s)
Blister , Carbon Dioxide , Carbon , Lasers, Gas , Neck , Pemphigus , Pemphigus, Benign Familial , Skin , Skin Diseases , TransplantsABSTRACT
A 25-year-old man with familial benign chronic pemphigus presented with a one-year history of a localized pruritic recurrent eruption on his perianal area, Physical examination showed moist, macerated, fissured and scaly patches on erythematous base, A biopsy specimen showed extensive intraepidermal separation containing acantholytic cells. Electron microscopic observation showed widened intercellular space, detachment of the tonofilaments from the desmosomes, and subsequent concentration of the tono filaments around the nucleus. Microvilli were elorigated, thinned and branehed. 1)esmosomes were reduced in number. This case is unique in its clinical location, showing no family tendency.