Epidermolysis bullosa pruriginosa: a rare presentation with asymptomatic lesions.

Epidermolysis bullosa pruriginosa (EBP) is a subtype of dominant dystrophic epidermolysis bullosa (DDEB) and is clinically characterized by pruritic lichenified plaques or prurigo-like lesions with violaceous linear scarring. Pruritus has always been described as one of the most striking features in EBP. Mutations in COL7A gene, especially in the glycine residue, have been shown to cause this form of DDEB. In this report, we describe a north Indian familial clustering of three cases of EBP, spread across two generations, presenting with hypertrophic lichenoid cutaneous lesions, which were completely asymptomatic. Clinical and histopathological analysis favored the diagnosis of EBP in all three cases. They are being reported for their unusual asymptomatic presentation.

Immunofluorescence antigen mapping for hereditary epidermolysis bullosa.

Epidermolysis bullosa (EB) is a group of inherited, mechanobullous disorders that are caused by mutations in the structural proteins in the epidermis or dermoepidermal junction. Characteristic clinical picture is the presence of blisters at trauma prone areas of the body, which develops at or soon after birth. Availability of specific monoclonal antibodies against the target proteins together with advances in the molecular genetics have led to the revision in the classification of EB. Now four major types of EB are recognized depending upon the level of blister and the location of target protein: EB simplex (epidermolytic), junctional EB (lucidolytic), dystrophic EB (dermolytic) and Kindler's syndrome (mixed cleavage plane). The laboratory tests not only help to confirm the diagnosis of EB but are also an important tool to classify (and subtype) EB. These include immunofluorescence antigen mapping (IFM), transmission electron microscopy (TEM) and mutation analysis. IFM is the most preferred method for final diagnosis of EB worldwide. It is relatively easy to perform and results can be obtained rapidly. This article describes the technicalities and significance of IFM in various types of EB.

Epidermolysis bullosa: where do we stand?

Epidermolysis bullosa, a genetically determined skin fragility disorder can severely incapacitate the life of the afflicted patient. Although the clinical features are multiple and varied, treatment still remains a major challenge. There have been major changes in the classification of the disease recently. Although there is still a long way to go, good nursing care, and gene therapy could possibly significantly alleviate the suffering of the patients in the future.

Epidermolysis bullosa pruriginosa--report of three cases.

Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, is characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional trauma-induced blistering, excoriations, milia, nail dystrophy and albopapuloid lesions, appearing at birth or later. Scarring and prurigo are most prominent on the shins. Treatment is unsatisfactory. We report three such cases: two of them first cousins, are described with history of blisters since childhood, followed by intensely pruritic lesions predominantly on the shins, and dystrophy of toenails, but no albopapuloid lesions or milia. Intact blisters were present in one case, and excoriations were seen in the other two. All of them showed encouraging response to cryotherapy.