Reuven Bergman1, Avikam Harel, Eli Sprecher. 1. 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
Abstract
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.
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.
Authors: C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno Journal: Br J Dermatol Date: 2019-08-09 Impact factor: 9.302