TY - JOUR
T1 - Dyskeratosis as a histologic feature in epidermolysis bullosa simplex-Dowling Meara
AU - Bergman, Reuven
AU - Harel, Avikam
AU - Sprecher, Eli
N1 - Funding Information:
Supported in part by a grant provided by the Bureau for Economic Growth, Agriculture, and Trade, Office of Economic Growth and Agricultural Development, US Agency for International Development, under the terms of Award No, TA-MOU-01-M21-023.
PY - 2007/9
Y1 - 2007/9
N2 - 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. Limitations: This was a relatively small studied group. Conclusion: 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.
AB - 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. Limitations: This was a relatively small studied group. Conclusion: 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.
UR - http://www.scopus.com/inward/record.url?scp=34547838123&partnerID=8YFLogxK
U2 - 10.1016/j.jaad.2007.02.023
DO - 10.1016/j.jaad.2007.02.023
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C2 - 17707151
AN - SCOPUS:34547838123
SN - 0190-9622
VL - 57
SP - 463
EP - 466
JO - Journal of the American Academy of Dermatology
JF - Journal of the American Academy of Dermatology
IS - 3
ER -