Benign familial chronic pemphigus or Hailey-Hailey disease is caused by an autosomal dominant mutation in the ATP2C1 gene leading to suprabasilar acantholysis. The disease most commonly affects intertriginous areas symmetrically. The chronic nature of the disease and multiple recurrences make the disease bothersome for patients and a treatment challenge for physicians. Treatments include topica...

Hailey-Hailey disease (HHD) and Darier's disease (DD) are caused by mutations in Ca(2+)-ATPases with the end result of desmosomal disruption and suprabasal acantholysis. Tight junctions (TJ) are located in the granular cell layer in normal skin and contribute to the epidermal barrier. Aberrations in the epidermal differentiation, such as in psoriasis, have been shown to lead to changes in the e...

Pemphigus vulgaris (PV) is an autoimmune blistering disease whose pathogenesis involves both humoral and cell-mediated immune response. Though the pathogenetic role of autoantibodies directed against desmoglein 3 is certain, a number of other factors have been suggested to determine acantholysis in PV. In this study we examined the possible role of CD8+ T cells in the development of acantholysi...

Paraneoplastic pemphigus is an autoimmune blistering disease associated with an occult or previously diagnosed tumor. Its clinical, histological, and immunological features have been clearly defined. It is characterized by the presence of polymorphic skin lesions and by erosions of the oral and genital mucosas that are refractory to conventional treatments. The histology can be variable and inc...

Focal acantholytic dyskeratosis (FAD), epidermolytic hyperkeratosis (EHK), and Hailey-Hailey-like acantholysis (HH) represent unique histology reaction patterns, which can be associated with defined phenotypic and genotypic alterations. Incidental microscopic foci demonstrating these patterns have been identified in skin and mucosal specimens in association with a gamut of disease processes. Th...

Abstract A 35-year-old woman presented with a 4-year history of persistent pruritic rash affecting her upper and lower limbs, concerning to the patient for cosmetic reasons. She denied any precipitating factors reported no improvement use topical clobetasol propionate. Notably, mother had similar rash, which also developed in 30s continued progress over time. Physical examination revealed bilat...

Pemphigus vulgaris is a chronic autoimmune blistering disease characterized by antibody production against Desmogleins 3 (Dsg3) and 1 (Dsg1) causing acantholysis. Increased levels of innate cytokines detected in the blister fluid suggest role immune system activity. To elucidate discrepancy between binding pathogenic antibodies lack formation, we focused on cofactors supporting Here, used dispa...

A clinicopalhological study of 70 cases of pemphigus observed over a span of four and a half years from January 1992 to June 1996 at the Sir J.J. Group of Hospitals and Grant Medical College, Mumbai is reported. Pemphigus vulgaris constituted the single largest group of 43 cases, followed by pemphigus foliaceus (25 cases) and pemphigus vegetans (2 cases). Majority of the cases were seen in the ...

To cite: Saraya T, Fujiwara M, Shimura C, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2015210433 DESCRIPTION A 54-year-old man with thymoma (figure 1A, arrow) diagnosed 8 months previously was referred to our hospital because of a 5-month history of painful oral ulcer and odynophagia. Physical examination showed erosion of the lips, pharynx, tongue and ...