Examination of a 2-day-old neonate reveals numerous blisters on the trunk and extremities. Skin biopsy discloses separation of the basal layer of the epidermis from its basement membrane and is devoid of inflammatory cells. No antibody deposits are identified by immunofluorescence microscopy. Which of the following is the most likely diagnosis?
Correct Answer: Epidermolysis bullosa
Description: EB comprises a heterogeneous group of disorders loosely bound by their hereditary nature and by a tendency to form blisters at sites of minor trauma. EB simplex has been attributed to mutations of genes encoding cytokeratin intermediate filaments. The clinical spectrum of the disease ranges from a minor annoyance to a widespread, life-threatening blistering disease. These blisters are almost always noted at birth or shortly thereafter. The classification of these disorders is based on the site of blister formation in the basement membrane zone. Although epidermolytic EB is cosmetically disturbing and sometimes debilitating, it is not life threatening. Blisters seen in bullous pemphigoid (choice A) and pemphigus vulgaris (choice E) are associated with immunoglobulin deposits that are visualized by direct immunofluorescence microscopy. Dermatitis herpetiformis (choice B) occurs at a later age and is associated with gluten hypersensitivity. In ichthyosis vulgaris (choice D), scaly skin results from increased cohesiveness of the stratum corneum.Diagnosis: Epidermolysis bullosa
Category:
Pathology
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