Pénfigo benigno familiar de presentación atípica en paciente sin antecedente familiar / Atypical presentation of familial benign pemphigus in patient without familiar background

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

Caso para diagnóstico / Case for Diagnosis

Relata-se o caso de paciente do sexo feminino, de 9 anos de idade, com história de lesões bolhosas exclusivamente no dimídio direito, que acomete vários familiares de forma simétrica e cuja histologia evidencia acantólise tipo muro dilapidado, correspondendo, assim, a uma apresentação rara de mosaicismo na doença de Hailey-Hailey.

The case of a 9-year-old girl with a history of blistering lesions restricted to the right side of her body is described. Several family members are also affected in a symmetrical fashion. Histological examination showed acantholysis similar to a "dilapidated brick wall", corresponding to a rare presentation of mosaicism in Hailey-Hailey disease.

Keratosis Follicularis and Familial Benign Pemphigus in the Same Patient / 대한피부과학회지

Keratosis follicularis and familial benign pemphigus is an autosomal dominant inherited disease. Keratosis follicularis is characterized by keratotic papules predominantly on the seborrheic areas and familial benign pemphigus, recurrent bullous and vesicular dermatitis on the opposing surfaces. The differential diagnosis of the two diseases with histopathological findings is difficult and still in confusion. We present a case of a 23-year-old woman who had plaques composed of keratotic papules on the anterior shin areas and oozing crusted patches on the buttocks and calves which had some resemblance to the clinical features of familial benign pemphigus. The histological features of the former were consistent with keratosis follicularis, whereas that of the latter was characteristic of familial benign pernphigus.

A Case of Generalized Familial Benign Pemphigus

Familial benign pemphigus(Hailey-Hailey disease) is a rare hereditary dermatosis that begins in the 2nd or 3rd decade of life. The skin lesion is characterized by a localized, recurrent eruption of small vesicles on an erythematous base. During its course there are remissions and exacerbations. It seldom begins in early childhood or after the age of 50. The main treatment modalities are conservative ones. A 59-year-old woman with familial benign chronic pemphigus presented with a 10 year history of generalized pruritic recurrent skin lesions on her neck, axilla, inguinal, antecubital, and trunk area. Physical examination showed moist, macerated, fissured and scaly patches on an erythematous base in the axillae, groins, neck, antecubital, and trunk. A biopsy specimen showed extensive suprabasal separation containing acantholytic cells.