dermatologic disorders
Epidermolysis Bullosa
Diagnosis of Epidermolysis Bullosa
Biopsy and immunofluorescence testing or transmission electron microscopy of skin Gene mutation analysis Epidermolysis bullosa is suspected based on clinical presentation. Family history may indicate the mode of inheritance and thus the possible type: autosomal dominant inheritance (epidermolysis bullosa simplex, dystrophic epidermolysis bullosa) or autosomal recessive inheritance (junctional epidermolysis bullosa, dystrophic epidermolysis bullosa, Kindler syndrome, rarely epidermolysis bullosa simplex). includes common friction blisters and Diagnosis . Diagnosis of specific types and subtypes is based on family history, biopsy and immunofluorescence testing or transmission electron microscopy of a freshly induced blister (not from the palms or soles), and gene mutation analysis of a blood sample. Immunofluorescence testing or transmission electron microscopy determines the Skin cleavage levels in epidermolysis bullosa . Genetic testing is usually done to confirm specific disease type and guide genetic counseling. (See table Some Features of the Major Epidermolysis Bullosa Types .) Possible prenatal testing should be discussed with families that have a history of epidermolysis bullosa. 