Darier's disease (DD) is a rare, dominantly inherited disorder that affects the skin producing a variety of types of lesion. Close examination of lesional DD skin shows the presence of abnormal keratinization (epidermal differentiation) and acantholysis (loss of cohesion) of keratinocytes. A number of clinical studies have described the co-occurrence of various neurological and psychiatric symp...

Fig 1. Papular acantholytic dyskeratosis. Red-pink verrucous papules in a linear distribution. CASE REPORT A 78-year-old man was hospitalized for resection of a craniopharyngioma. His postoperative course was complicated by infections and a 4-month-long hospitalization. The dermatology department was consulted because of a new inguinal rash. The patient noted a 7-day history of a nonpruritic, n...

Epidermolytic ichthyosis (EI) is a rare skin disorder characterized by generalized erythroderma and cutaneous blistering at birth, which is substituted by hyperkeratosis later in life. It is caused by autosomal dominant mutations in highly conserved regions of KRT1 and KRT10. To date, only 4 mutations with autosomal recessive inheritance of EI have been described in consanguineous families. All...

Bullous autoimmune skin diseases, characterized by the formation of bullae or vesicles, are divided into two groups dependent on the location of clefts and the formation of bullae within the skin. In the pemphigus group of diseases the vesicles form intradermally; in pemphigoid the clefts occur at the dermal epidermal junction. The primary lesion of pemphigus is acantholysis in which the epider...

Senear-Usher syndrome or pemphigus erythematosus is a pathology that overlaps clinically and serologically with pemphigus foliaceus and lupus erythematosus. Skin biopsies of patients with pemphigus erythematosus reveal acantholysis and deposits of immunoglobulins in desmosomes, and they are positive in the lupus band test. In the present paper, we determined whether the autoantibodies associate...

A 67-year-old man with a 10-year history of flexural blistering eruptions also affecting 3 of his brothers was first evaluated in 1987. The patient presented with vesicles, erosions, and erythema in the intertriginous areas but also as multiple truncal plaques (Figure 1). Biopsy specimens showed intraepidermal clefts of varying sizes both suprabasally and higher in the epidermis, as well as the...

Pemphigus is an autoimmune disease of skin adhesion associated with autoantibodies against a number of keratinocyte antigens, such as the adhesion molecules desmoglein (Dsg) 1 and 3 and acetylcholine receptors. The notion that anti-Dsg antibodies alone are responsible for blisters in patients with pemphigus vulgaris (PV) stems from the ability of rDsg1 and rDsg3 to absorb antibodies that cause ...

Darier’s disease (DD) is an autosomal dominant skin disorder characterized by acantholysis and dyskeratosis associated with mutations in ATP2A2 encoding for the sarco/endoplasmic reticulum Ca2+-ATPase pump type 2 (SERCA2), resulting patients being functionally haploinsufficient SERCA2. DD keratinocytes displayed a 1.5-fold increase Ca2+ levels above that observed control keratinocytes. This imb...

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...

CLL: chronic lymphocytic leukemia DSG: desmoglein ELISA: enzyme-linked immunosorbent assay EP: envoplakin PNP: paraneoplastic pemphigus IIF: indirect immunofluorescence PP: periplakin SJS: Stevens-Johnson syndrome TEN: toxic epidermal necrolysis INTRODUCTION Paraneoplastic pemphigus (PNP) is an autoimmune blistering syndrome with 5 well-described clinicopathologic phenotypes. Nguyen et al categ...