Applications of electron microscopy in health: the example of epidermolysis bullosa

We report the case of a patient with dystrophic epidermolysis bullosa (DEB) diagnosed by transmission electron microscopy (TEM), emphasizing the applications and importance of this technique in the health area. The patient was a male, the only child of young and non-consanguineous parents without similar cases in the family. The patient underwent a cutaneous biopsy in which TEM revealed sub-basal membrane involvement, confirming the diagnosis of DEB. Despite technological advances, TEM continues to play an important role in diagnosis and clinical research and is considered the best option for confirmation of diagnosis and subtypes of diseases such as epidermolysis bullosa (EB).

[1]  P. Burgel,et al.  Primary ciliary dyskinesia in adults. , 2016, Revue des maladies respiratoires.

[2]  J. McGrath Recently Identified Forms of Epidermolysis Bullosa , 2015, Annals of dermatology.

[3]  S. Shinkuma Dystrophic epidermolysis bullosa: a review , 2015, Clinical, cosmetic and investigational dermatology.

[4]  A. Barbato,et al.  Nasal NO, high-speed video microscopy, electron microscopy, and genetics: a primary ciliary dyskinesia puzzle to complete , 2014, Pediatric Research.

[5]  E. Bauer,et al.  Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification. , 2014, Journal of the American Academy of Dermatology.

[6]  C. Zeng,et al.  Challenge in pathologic diagnosis of Alport syndrome: evidence from correction of previous misdiagnosis , 2012, Orphanet Journal of Rare Diseases.

[7]  J. Fine Inherited epidermolysis bullosa , 2010, Orphanet journal of rare diseases.

[8]  R. Eady,et al.  Transmission electron microscopy for the diagnosis of epidermolysis bullosa. , 2010, Dermatologic clinics.

[9]  A. Engel,et al.  What transmission electron microscopes can visualize now and in the future. , 2008, Journal of structural biology.

[10]  D. Murrell,et al.  Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa , 2008, Experimental dermatology.

[11]  D. Murrell,et al.  Inherited epidermolysis bullosa: new diagnostic criteria and classification. , 2012, Clinics in dermatology.

[12]  L. Bruckner-Tuderman,et al.  Dystrophic epidermolysis bullosa: pathogenesis and clinical features. , 2010, Dermatologic clinics.