Two Cases of Epidermolysis Bullosa Simplex (Dowling-Meara Type) / 대한피부과학회지

The Dowling-Meara type of epidermolysis bullosa simplex is a rare genodermatosis transmitted by autosomal dominant pattern. It starts during the first 3 months of life and is characterized by generalized bullae in a herpetiform pattern. We report two cases of Dowling-Meara type of epidermolysis bullosa simplex. The first case is an 18-year-old male patient who showed bullae in a herpetiform arrangement on the dorsa of both hands, forearms, and trunk, hyperkeratosis on the palms and soles, postinflammatory hypo- and hyperpigmentations, and dystrophy of finger and toe nails. The second case is a 1-month-old boy who showed multiple bullae in a herpetiform and confluent arrangement scattered on the whole body, particularly on the dorsa of both feet and hands. Microscopically and electro-microscopically, two cases all showed intraepidermal blisters formed within the basal keratinocyte in association with clumping of the tonofilaments and cytolysis of the basal cells.

A Case of Weber-Cockayne Epidermolysis Bullosa Simplex - Ultrastructural Findings / 대한피부과학회지

Epidermolysis bullosa simplex (EBS) is a group of autosomal dominantly inherited genetic disorders characterized by blistering due to mechanical- stress-induced degeneration of basal epiderrnal cells. Recently, it was discovered that EBS is induced by keratin 5 and 14 gene mutations. Weber Cockayne (W-C) EBS is the mildest type, with blistering concentrates primarily on palar and plantar regions, and basal cell cytolysis by keratin filament perturbations is present. Herein we report a case of W-C EBS with its ultrastructural findings. Electron microscopy showed cytolysis and separation of the basal epidermal cells, mainly at the subnuclear cytoplasm. The cyto- plasm of basal cells showed edema, loosening and intact rnitochondria. Besides the cytoplasmic changes, the nucleus also showed lytic degeneration. Characteristically, dense condensation of tonofilarnent was observed, which suggests that W-C EBS is. also a disorder of keratin.

A Case of Epidermolytic Keratosis Palmaris et Plantaris / 대한피부과학회지

Epidermolytic keratosis palmaris is a rare disease which shows clinical findings of Unna Thost keratoderma and histopathologic of epidermolytic hyperkeratosis. We report herein a case of epidermolytic keratosis palmaris et plantaris in a 16-month-old female baby. Light microscopy shows marked hyperkeratosis, large irregular keratohyalin granules, and large clear spaces in the granular and upper spinous layers. Eletron microscopic findings shows that the clear spaces are areas of cytoplasm filled with a fibrillar material and cellular organelles. Abnormal clumping of tonofilament and keratohyalin is also present.

CYTOLOGICAL IDENTIFICATION OF THE MURINE MTEC1 THYMUS EPITHELIAL CELL LINE / 解剖学报

A murine MTEC_1 thymus epithelial cell line established by us has been characterized. The cells were polyhydral and closely packed each other as epithelial like cells. Using anti-keratin antibody, the keratin were shown in cytoplasm of all cells. Under electronmicroscope, bunches of tonofilaments were clearly shown in the cytoplasm, and desmosomes were seen between neighbouring cells. Using anti-mouse epithelial cell monoclonal antibodies for immunohistochemical study, nearly all of the MTEC_1 cells were MTS33 positive. It suggests that MTEC, cells were derived from the epithelial cells located in medulla. The majority of the MTEC_1 cells have normal mouse diploid chomosome number of 40. These results provide evidence that MTEC, cell line is normal murine thymus epithelial cells.