Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara.
BACKGROUND
Intracellular keratin aggregation and clumping is a characteristic ultrastructural feature in epidermolysis bullosa simplex (EBS)-Dowling Meara (DM) yet without histologic correlates in routinely stained specimens.


OBJECTIVE
We sought to detect histologic clues to keratin aggregation and clumping in the involved epidermis of EBS-DM.


METHODS
Four cases of EBS-DM caused by dominant keratin (KRT)5 and KRT14 mutations were studied histologically and ultrastructurally. The histologic slides of 11 additional EBS cases (9 Weber-Cockayne subtypes and two Koebner subtypes) were also reviewed histologically.


RESULTS
Intracytoplasmic aggregation and clumping of tonofilaments were observed ultrastructurally in all 4 EBS-DM cases. Intracytoplasmic eosinophilic homogenizations and inclusions (ie, dyskeratosis) in individual keratinocytes were detected histologically in 3 of the 4 EBS-DM cases, but in none of the 9 EBS-Weber-Cockayne cases or the two EBS-Koebner cases.


CONCLUSIONS
This was a relatively small studied group.


CONCLUSIONS
The histopathological detection of dyskeratosis in individual keratinocytes may provide a valuable clue to keratin aggregation and clumping, and to the diagnosis in EBS-DM.
Bergman
Reuven
R
Department of Dermatology, Rambam Medical Center and the Bruce Rappaport Faculty of Medicine, Technion-Israel, Institute of Technology, Haifa 31096, Israel. r_bergman@rambam.health.gov.il
Harel
Avikam
A
Sprecher
Eli
E
D000328:Adult; D002648:Child; D003593:Cytoplasm / Q000648:ultrastructure; D004804:Eosinophils / Q000648:ultrastructure; D016110:Epidermolysis Bullosa Simplex / Q000473:pathology*; D005260:Female; D006801:Humans; D002479:Inclusion Bodies / Q000648:ultrastructure; D007231:Infant, Newborn; D007382:Intermediate Filaments / Q000648:ultrastructure; D015603:Keratinocytes / Q000648:ultrastructure*; D007633:Keratins / Q000378:metabolism; D008297:Male; D008854:Microscopy, Electron
D007633:Keratins