The possible involvement of mast cell tryptase and chymase in subepidermal bullous diseases was studied enzyme-histochemically in specimens from erythematous and vesicular skin and from non-involved skin of patients with dermatitis herpetiformis, bullous pemphigoid, erythema multiforme, infective bullous eruption and linear IgA dermatosis. Patients with pemphigus were biopsied for comparison. T...

Objective As a rare autoimmune disease, pemphigus vulgaris has a poor prognosis especially in lack of proper medical support. This blistering disease involves both the skin and mucus membranes. The challenge is improving the healing process of skin lesions of which, superimposed infections are among the main causes of the disease mortality. Accordingly, we aimed to assess the treatment options ...

Kindler syndrome (KS) is a rare autosomal recessive genodermatosis. We report two cases of KS with classical clinical presentations involving skin and mucus membranes. Clinically, both patients had four major features of KS in the form of acral skin blistering, photosensitivity, progressive poikiloderma, and diffuse cutaneous atrophy. Case 1 had associated features in the form of urethral...

The major histocompatibility complex haplotype represents the most prevalent genetic risk factor for development of autoimmune diseases. However, mechanisms by which complex–associated susceptibility translates into disease are not fully understood. Epidermolysis bullosa acquisita is an skin-blistering driven autoantibodies to type VII collagen. Here, we investigated autoantigen-specific plasma...

Abstract Background Trials of novel agents are required to improve the care patients with rare diseases, but trial feasibility may be uncertain due concerns over insufficient patient numbers. We aimed determine size pool potential participants in England 2015–2017 for trials autoimmune blistering skin disease bullous pemphigoid. Methods The was estimated using routinely collected healthcare dat...

Hailey-Hailey disease (HHD) is a rare autosomal dominant blistering skin disease first described in 1939. It is characterised by vesicular or crusted erosions on the neck and in intertriginous areas. Though it is known that the gene responsible for HHD is located on 3q21-q24, it is only recently found that the disease is a result of the mutations in the Ca2+ ATPase ATP2C1. A spectrum of mutatio...

Epidermolysis bullosa simplex (EBS) is a heritable skin disorder characterized by skin fragility and blistering. While its most severe variant, dystrophic epidermolysis bullosa (DEB) is associated with squamous cell carcinoma (SCC), the development of extracutaneous neoplasms in EBS is extremely rare. We report a novel case of supratentorial primitive neuroectodermal tumor (sPNET) in a 7-year m...