Over the last 30 years, paradigms have been established for genotype-phenotype correlation in group of inherited blistering skin diseases, epidermolysis bullosa (EB). One particular subtype EB, Ogna simplex (MIM #131950), now known as a form autosomal dominant intermediate EB simplex, was first described Norway more than 50 years ago and subsequently shown to result from heterozygous missense v...

INTRODUCTION Primary malignant melanoma is an uncommon skin tumour in Singapore compared with the Western countries. The clinical characteristics of melanoma have been rarely reported in Asians. OBJECTIVES Our purpose was to study the incidence, clinical characteristics and risk factors of biopsy proven malignant melanoma seen in a tertiary referral skin hospital. METHODS Case records of pa...

Bullous systemic lupus erythematosus is one of the rare autoantibody mediated skin manifestation of systemic lupus erythematosus (SLE) demonstrating subepidermal blistering with neutrophilic infiltrate histologically. We present a case of a 40-year-old Hispanic female who presented with a several months' history of multiple blistering pruritic skin lesions involving the face and trunk, a photos...

Maintenance of an intact epidermis depends on secure adhesion between adjacent keratinocytes and between basal keratinocytes and underlying epidermal basement membrane. The major adhesion units that achieve this are the hemidesmosomes and desmosomes but when these structures are disrupted, for example by gene mutations or autoantibodies, the resilience of the epidermis is lost and blisters deve...

Dermatitis herpetiformis (DH) is an autoimmune blistering skin disorder that is associated with gluten sensitivity. It presents as a papulovesicular rash and is often associated with enteropathy. The rash resolves when the patient is placed on a gluten-free diet and/or dapsone. DH, as well as celiac disease, is tightly associated with DQ2 and DQ8. A novel mouse model for DH is described that ut...

Epidermolysis bullosa acquisita (EBA) is an acquired blistering skin disease characterized by the presence of IgG autoantibodies that recognize type VII (anchoring fibril) collagen. In this study, we have mapped the antigenic epitopes within the type VII collagen alpha chain by Western immunoblotting analysis with sera from 19 patients with EBA, using bacterial collagenase- or pepsin-resistant ...

objectives: anticonvulsant drugs can cause various forms of skin drug reactions, ranging from exanthema to severe blistering reactions. some studies have reported an association between hla-b*1502 allele and severe skin reactions. materials and methods: fifteen patients with severe skin reactions following treatment with anticonvulsant drugs (carbamazepine, lamotrigine, phenobarbital, primidone...

Pityriasis versicolor is a superficial fungal infection of the skin caused by yeast of the genus Malassezia. It is characterized by hypopigmented or hyperpigmented macules and patches usually involving the trunk [1]. The variants of pityriasis versicolor include hypochromic, hyperchromic, combination of hypo-hyperchromic, erythematous, circinate, atrophic and acral [2-4]. However, the follicula...