The Dowling-Meara type of epidermolysis bullosa simplex(EBS) is genetic disease that is transmitted as an autosomal dominant trait and is charscterized clinically by pherpetiform clustering of blisters and palmo-plantar keratoderma. The disease usually presents at with or in early infancy. Although serious and hemorrhagic Wers may occur on any part of the body, the lesions heal without scaning in general. The disease shows a tendency to improve by progressian of age and it usually follows a relatively benign course. Microecopically, there are intraepidermal bli.ter s forming as a result of cytolysis of basal cells. In addition, the is a highly characteristic clumping of tonofilaments of keratinocytes in the lower epidermis, which is not seen in any other form of EBS. We report a case of Dowling-Meara type of EBS that is first destribed in Korean medical literatures.
Blister ; Epidermis ; Epidermolysis Bullosa Simplex* ; Epidermolysis Bullosa* ; Intermediate Filaments ; Keratinocytes

No abstract available.
Desmin* ; Intermediate Filament Proteins* ; Intermediate Filaments* ; Muscle, Skeletal* ; Muscular Diseases* ; Sciatic Nerve* ; Vimentin*

To identify the developmental characteristics of intermediate filaments, the expressions of various cytokeratines (CK), desmin and vimentin in fetal (14032 weeks of gestations) and adult epidermis were studied immunohistochemically. The primary antibodies used were CK7, 8, 10, 14, 18, AE8, 5D3, and MNFl16 for cytokeratins, D33 for desmin, and V9 for vimentin. At 14 weeks of gestation, the epidermis consisted of basal cells and periderm. The periderm exhibited positive staining for CK8 and AE8, and weak staining for MNF116 and D33. The basal cells showed positive staining for MNF116 and D33. The epidermis did not reacted for CK7, 10, 14, 18, 5D3, and V9 at this period. At 16-20 weeks of gestation, the epidermis was composed of basal, intermediate, and periderm layers. The periderm was positive for CK8, 18, AE8, MNF116, and D33. The intermediate cells were positive for CK10 and the basal cells CK14, MNF116, and D33. Few cells were stained positively with V9 among the basal cells. At 24-32 weeks of gestation, the epidermis exhibited no longer positive reactions for CK8, 18, AE8 and D33. The intermediate cells were positive for CK10. Immunoreactivity for MNF116 was noted in intermediate layer just above the basal layer. CKl4, MNFl16, D33, and often V9 were expressed in basal cells. The expressions of CK7 and 5D3 were not observed at any period of gestation. In adult epidermis, basal cells exhibited positive staining for CKl4, MNFl16, and D33. The intermediate cells were strongly positive for CK10, and weakly positive for CK7, 8, and MNFl16. The cells positive for V9 were often present among the basal cells. These results indicate that CK8 and 18 may serve as useful markers for periderm, CK10 for intermediate cells, CKl4 for basal cell, and suggest that the vimentin immunoreactive cells in basal cell layer are Langerhans cells.
Adult ; Antibodies ; Desmin ; Epidermis* ; Fetus* ; Humans* ; Immunohistochemistry ; Intermediate Filaments ; Keratins* ; Langerhans Cells ; Pregnancy ; Vimentin

The purpose of this study was to investigate what the intermediate filaments in the cells of rat mandibular fossa fibrous layer are and any relationships between the presence of these filaments and aging. Mandibular fossae of 4 groups of rats(14-day, 28-day, 55-day and adult groups) were removed on bloc and processed for immunostaining and were subjected to light microscopic examination. The results were as follows : In 14-day group, there were no immunoreactive cells in fibrous layer of mandibular condyle articular surface. But in 28-day group, many immunoreactive cells were seen in fibrous layer, especially central portion of articular surface of mandibular fossa. These cells were fusiform shaped and immunoreactivities were seen in the cytoplasm around the nucleus. In 55-day group many immunoreactive cells were seen in fibrous layer of mandibular fossa. These cells were fusiform shaped and distributed evenly in central portion of this fibrous layer. Immunoreactivities were seen in the cytoplasm around the nucleus. In adult group, the results were similar to 55-day group, Many immunoreactive cells were seen in fibrous layer of mandibular fossa especially central portion. According to these results, vimentin immunoreactive filaments appear with aging and increment of mechanical load associated with incision or mastication.
Adult ; Aging* ; Animals ; Cytoplasm ; Humans ; Intermediate Filaments ; Mandibular Condyle ; Mastication ; Rats* ; Vimentin*

20-year-old patient presented with the episodes of generalized hyperkeratotic lesions with bullae since her early life, without family history. Histopathological examination by light and electron microscopes showed the characteristic features of epidermolytic hyperkeratosis. Primarily, she failed to respond to the treatment with propylene glycol. Vitamine A palmitate(A-Mulsin) per os appears to be a beneficial remedy for epidermolytic hyperkeratosis, although its availability is limited due to the side effects on a long term therapy. Repeated biopsies in the normal appearing lesions 2 months after treatment of vitarnin .A palmitate showed a substantial reduction of the horny layer on the light microscope and orderly arrangement of the tonofilaments, and properly formed keratohyaline granules on EM, but the underlying disorder of keratinization remained unchanged. Treattnent of 2 months with vitamin A was interrupted by side effects of nasal bleealing, chelitis and xerosis.
Biopsy ; Humans ; Hyperkeratosis, Epidermolytic* ; Intermediate Filaments ; Propylene Glycol ; Vitamin A* ; Vitamins* ; Young Adult

Ameloblastoma is the most common odontogenic tumor of the jawbones, but the origin of this tumor has been remained to be unproven. Cytokeratins (CKs) are specific intermediate filament of epithelial cells, and vimentin is expressed in mesenchymal cells. The immunohistochemical detection of different CKs and vimentin has made it easier to know the origin of tumor. Paraffin-embedded tissue sections from 15 ameloblastomas and 1 ameloblastic carcinoma were used for immunohistochemical evaluation of CK 7, 8, 13, 14, 19 and vimentin. Their expression is evaluated in different tumor cells, which are observed in different type of tumors. In the follicular and reticular subtype, central stellate cells of tumor nests expressed CK 8, 14, 19 and peripheral columnar cells expressed CK 14. CK 7, and 13 were not expressed. Vimentin was detected in fibrous stroma around tumor nest, not in tumor cells. The tumor cells of ameloblastic carcinoma expressed CK 7, 14 and 19, but CK 8 was more weakly stained than that in ameloblastoma. Central stellate cells and peripheral columnar cells of acanthomatous subtype showed same expression pattern with others. Meta plastic squamous cells expressed CK 8, 14, 19 and keratinizing squamous cells expressed CK 13, 19. CK 7 and vimentin were not detected in tumor cells and vimentin was expressed in fibrous stroma. Most of the tumor cells of ameloblastoma showed CK 14 and CK 19 and did not express CK 7 and vimentin. These findings were similar to the immunophenotype of dental lamina. And these results will be beneficial to differential diagnosis of odontogenic tumors and other kind of tumors arising at the oral cavity.
Ameloblastoma* ; Ameloblasts ; Diagnosis, Differential ; Epithelial Cells ; Intermediate Filaments ; Keratins* ; Mouth ; Odontogenic Tumors ; Plastics ; Vimentin*

BACKGROUND: In the course of the study of keratin expression in the epidermis of nevus sebaceus, several cells in the epidermis of nevus sebaceus were positively stained with CAM 5.2 antibody, which is known to be specific for the lower molecular weight cytokeratin and used as a marker of Merkel cell. OBJECTIVE: This study was intended to verify that CAM 5.2 positive cells found in the epidermis of nevus sebaceus are Merkel cells and to understand the meaning of CAM 5.2 positive j cells in the epidermis of nevus sebaceus. METHODS: The immunohistochemical stainings with CAM 5.2 and antibody to epithelial membrane antigen (EMA) performed on specimens of normal skin, epidermal nevus, nevus sebaceus and some appendage tumors. In order to confirm the nature of CAM 5.2 positive cells, the distribution of those were compared to that of Merkel cells and double labeling with CAM 5.2 and neurofilament was performed. RESULTS: CAM 5.2 positive cells were also found in trichilemmoma developed associated with nevus sebaceus and the epidermis of normal paimoplantar skin. CAM 5.2 positive cells were also stained with antibody to EMA on serial sections cut from the same tissue blocks. The association of CAM 5.2 positive cell and nerve fiber was also demonstrated. CONCLUSION: CAM 5.2 positive cells are seemed to be Merkel cells and their presence in the covering epidermis of nevus sebaceus suggests to the epidermis of nevus sebaceus may not be nevoid proliferation of epidermal keratinocytes.
Epidermis* ; Intermediate Filaments ; Keratinocytes ; Keratins ; Merkel Cells ; Molecular Weight ; Mucin-1 ; Nerve Fibers ; Nevus* ; Skin

BACKGROUND: In the course of the study of keratin expression in the epidermis of nevus sebaceus, several cells in the epidermis of nevus sebaceus were positively stained with CAM 5.2 antibody, which is known to be specific for the lower molecular weight cytokeratin and used as a marker of Merkel cell. OBJECTIVE: This study was intended to verify that CAM 5.2 positive cells found in the epidermis of nevus sebaceus are Merkel cells and to understand the meaning of CAM 5.2 positive j cells in the epidermis of nevus sebaceus. METHODS: The immunohistochemical stainings with CAM 5.2 and antibody to epithelial membrane antigen (EMA) performed on specimens of normal skin, epidermal nevus, nevus sebaceus and some appendage tumors. In order to confirm the nature of CAM 5.2 positive cells, the distribution of those were compared to that of Merkel cells and double labeling with CAM 5.2 and neurofilament was performed. RESULTS: CAM 5.2 positive cells were also found in trichilemmoma developed associated with nevus sebaceus and the epidermis of normal paimoplantar skin. CAM 5.2 positive cells were also stained with antibody to EMA on serial sections cut from the same tissue blocks. The association of CAM 5.2 positive cell and nerve fiber was also demonstrated. CONCLUSION: CAM 5.2 positive cells are seemed to be Merkel cells and their presence in the covering epidermis of nevus sebaceus suggests to the epidermis of nevus sebaceus may not be nevoid proliferation of epidermal keratinocytes.
Epidermis* ; Intermediate Filaments ; Keratinocytes ; Keratins ; Merkel Cells ; Molecular Weight ; Mucin-1 ; Nerve Fibers ; Nevus* ; Skin

Osteofibrous dysplasia (OFD)-like adamantinoma is a rare skeletal tumor that is characterized by the predominant OFD-like pattern with scattered epithelial nests. Adamantinoma shares clinical features (the majority of lesions in the tibia and the prevalent age group), radiologic findings (radiolucency with sclerotic shadow), and pathologic similarities (particularly the presence of scattered cytokeratin-positive stromal cells) with OFD. We describe a case of OFD-like adamantinoma. Epithelial cell nests express the epithelial membrane antigen, pancytokeratin, CK14, and collagen type IV. Ultrastructurally, the oval to spindle cells in the epithelial foci had abundant tonofilaments, and well-formed desmosomes with dense plaques, of which well preserved desmosomes are demonstrated for the first time in OFD-like adamantinoma. These immunohistochemical and ultrastructural findings further support that the origin of epithelial cells of classic and OFD-like adamantinoma are epithelial cells transformed from fibroblastic cells in the proliferating osteofibrous tissue.
Adamantinoma* ; Collagen Type IV ; Desmosomes ; Epithelial Cells ; Fibroblasts ; Fibroma, Ossifying ; Immunohistochemistry ; Intermediate Filaments ; Mucin-1 ; Tibia

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.
Cytoplasm ; Female ; Humans ; Hyperkeratosis, Epidermolytic ; Infant ; Intermediate Filaments ; Keratoderma, Palmoplantar* ; Keratosis* ; Microscopy ; Organelles ; Rare Diseases