Caso para diagnóstico

Abstract

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.

Topical aluminum chloride as a treatment option for Hailey-Hailey disease: a remarkable therapeutic outcome case report

“…Hailey-Hailey disease (HHD) or benign familial pemphigus, is a rare autosomal dominant genodermatosis, characterized by chronic and painful blisters and ulcerations in intertriginous areas, which cause significant impairment of quality of life of affected patients. 1 , 2 This case report describes a 55-year-old woman who had developed painful, recurrent lesions since the age of 13, which started as blisters in the intertriginous areas. Over the years, the patient remained undiagnosed and underwent treatments with oral and topical corticosteroids, topical and systemic antifungals, oral and topical antibiotics, and topical immunomodulators, with slight improvement and frequent relapses, which resulted in significant impairment of her quality of life.…”

“… 3 , 4 Patients quality of life is significantly impaired due to the symptoms (pruritus, burning sensation and pain), foul body odor and chronicity. 2 , 4 Mutations in the ATP2C1 gene, which encodes a Ca 2+ ATPase pump, lead to changes in Ca 2+ -dependent intracellular signaling, resulting in loss of cell adhesion in the epidermis. 1 …”