Dear Editor, Reticulate pigmentary disorders (RPD) is a term used to classify a spectrum of several acquired and congenital disorders. Different clinical features can be present, including a reticular pattern and a freckle-like pattern with hyperor hypo-pigmented macules (1). Dowling-Degos disease (DDD), an autosomal dominant genodermatosis, is the main type of RPD (2). Clinically, DDD presents...

Background. Bullosis diabeticorum is a distinct, spontaneous, noninflammatory, and blistering condition of acral skin that is unique to diabetics. It is rare. Exact aetiopathogenesis is not known, but many attributed peripheral neuropathy as a potent risk factor, others hypothesized the role of trauma, UV light, and nephropathy. Aim. To present cases of bullosis diabeticorum following long-dist...

Plakoglobin, a protein belonging to the Armadillo-repeat gene family, is the only component that adherens junctions and desmosomes have in common. Plakoglobin null-mutant mouse embryos die because of severe heart defects and may exhibit an additional skin phenotype, depending on the genetic background. Lack of plakoglobin affects the number and structure of desmosomes, resulting in visible defe...

Darier's disease (DD) is an autosomal dominantly inherited skin disorder characterized by loss of adhesion between epidermal cells (acantholysis) and abnormal keratinization. Recently, we identified ATP2A2 encoding the sarco/endoplasmic reticulum Ca(2+)ATPase isoform 2 as the defective gene in DD. Now we report a spectrum of ATP2A2 mutations in 19 families and six sporadic cases with DD and inv...

Vesiculo-bullous lesions as well the late onset are extremely rare features of Darier disease (DD) making positive diagnosis more difficult. Its association with polycythemia vera prompts to look for signs suggestive malignant hematological transformation. We report a case 62-year-old patient, followed in internal medicine since age 58 vera. She presented pruriginous vesiculo-bullous dermatosis...

COOPER (1858) first described the ocular manifestations of pemphigus. von Kries (1878), working in von Graefe's clinic, described "essential shrinkage of the conjunctiva", and von Graefe (1879) identified the terminal state of pemphigus with essential shrinkage of the conjunctiva. By 1892, when Duane translated Fuchs's textbook into English, the diagnosis of pemphigus conjunctivae was establish...

Pemphigus vulgaris (PV) is a rare, potentially fatal, autoimmune disease that affects the skin and mucous membranes. The PV antigen (PVA) has been characterized as desmoglein 3. PV patients carry HLA-DR4- or HLA-DR6-bearing extended haplotypes. We recently demonstrated that patients with active disease have high titers of PV autoantibodies of the IgG1 and IgG4 subclasses. Patients in remission,...

UNLABELLED A RARE DISEASE: Paraneoplastic pemphigus is an rare autoimmune bullous skin disease recently recognized. About 50 cases have been reported since its first description in 1990. CLINICAL MANIFESTATIONS Clinical signs are polymorphous resembling the cutaneomucosal manifestations of pemphigus vulgar (skin and mucosa erosions, fragile interdermal bullae), pemphigoid (urticaria, distende...