Hailey-Hailey disease (HHD) or familial benign chronic pemphigus is a dermatosis with an autosomal dominant inheritance characterized by full penetrance and variable expressivity: from individual resembling eczema lesions to extensive lesions of the skin. HHD causes mutations in the gene ATP2C1, which encodes the ATPase calcium-magnesium secretory mechanism of a human [1,2]. The mechanism by wh...

BACKGROUND Pemphigus vulgaris is a rare autoimmune blistering disease seen only, rarely, in children. CASE-REPORT Two young girls, aged four and 15 years respectively, presented with oral and/or cutaneous blisters (case 2). The diagnosis of pemphigus vulgaris was confirmed by histology (suprabasal acantholysis) and immunopathological analysis (direct and indirect immunofluorescence, antidesmo...

Pemphigus vulgaris (PV) is a chronic autoimmune bullous disease characterized by the formation of suprabasal cleavage and acantholysis. As this disease almost always affects the oral mucosa, conventional cytological smears of oral lesions can be used for the initial diagnosis of PV. We report two cases of PV that were initially diagnosed based on cytological smears of an oral sample. As atypica...

Volume 89, Number 1 www.aafp.org/afp American Family Physician 7 A 62-year-old man with no significant medical history presented with multiple bullae on his trunk that had been present for one week. The rash was painful but not pruritic. He did not have a fever or sore throat, and had not used any new medications. Physical examination revealed multiple vesicles, flaccid bullae, and erosions wit...

Case History A 67-year-old Sikh male was diagnosed with pemphigus vulgaris in 1996 when he presented with oral erosions. His disease remained controlled on long-term, low-dose prednisolone therapy. In 2004, he developed a verrucous keratotic plaque over the occipital region of his scalp and it had been gradually enlarging (Fig. 1). Biopsies were performed in 2004 and 2008 and histological featu...

resulting in dysphagia A 44-year-old man was admitted to our institution because of the appearance of painful cutaneous, oral, and genital vesicles. His previous medical history was unremarkable. He had had pharyngitis treated with amoxicillin 1 month before the hospitalization. On physical examination, symmetrically erythematous plaques, covered with vesicles, were seen. Because of subsequent ...

In patients with pemphigus vulgaris (PV), autoantibodies against desmoglein 3 (Dsg3) cause loss of cell-cell adhesion of keratinocytes in the basal and immediate suprabasal layers of stratified squamous epithelia. The pathology, at least partially, may depend on protease release from keratinocytes, but might also result from antibodies interfering with an adhesion function of Dsg3. However, a d...

In humans, congenital and hereditary skin diseases associated with epidermal cell-cell separation (acantholysis) are very rare, and spontaneous animal models of these diseases are exceptional. Our objectives are to report a novel congenital acantholytic dermatosis that developed in Chesapeake Bay retriever dogs. Nine affected puppies in four different litters were born to eight closely related ...

Background The treatment of keratinocyte cancers (KC) strictly depends on their differentiation and invasiveness. Non-invasive diagnostic techniques can support the diagnosis in real-time, avoiding unnecessary biopsies. This study aimed to preliminarily define main imaging criteria histological correlations actinic keratosis (AK), Bowen’s disease (BD) squamous cell carcinoma (SCC) using novel d...