EPIDERMOLYSIS BULLOSA WITH CONGENITAL LOCALISED ABSENCE OF THE SKIN

[Congenital epidermolysis bullosa: a review].

Epidermolysis bullosa is a group of hereditary diseases affecting 1 in 17,000 live births worldwide. It consists of blistering of the skin and mucous membranes in response to minimal trauma. The disorder seriously affects the patient's quality of life. Diagnosis is based on immunofluorescence mapping and electron microscopy. Treatment is symptomatic, although new cellular and molecular therapie...

Bullous Mastocytosis Mimicking Congenital Epidermolysis Bullosa

A 2-month-old female infant was referred to DebRA Mexico from the Regional Children's Hospital because of a generalized dermatosis from birth characterized by multiple blisters and erosions on the trunk, face and limbs, associated with minor trauma. A skin biopsy showing subepidermal blisters associated with a dermal infiltrate of Giemsa-positive cells and CD117-positive antibody was consistent...

Congenital pyloric atresia and epidermolysis bullosa.

Epidemiology of epidermolysis bullosa in the antipodes: the Australasian Epidermolysis Bullosa Registry with a focus on Herlitz junctional epidermolysis bullosa.

OBJECTIVE To present epidemiologic and clinical data from the Australasian Epidermolysis Bullosa (EB) Registry, the first orphan disease registry in Australia. DESIGN Observational study (cross-sectional and longitudinal). SETTING Australian private dermatology practice, inpatient ward, and outpatient clinic. PATIENTS Systematic case finding of patients with EB simplex, junctional EB (JEB...

[Immunofluorescence mapping for diagnosis of congenital epidermolysis bullosa].

The tools for diagnosis of epidermolysis bullosa have advanced greatly since Hintner's group introduced antigen mapping as a diagnostic test for this family of genodermatoses. Monoclonal or polyclonal antibodies raised against some of the specific proteins found in the epidermis and basement membrane of the epidermis have allowed 4 types of epidermolysis bullosa de be identified and all variant...