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*

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

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

BACKGROUND: The histologic distinction between basal cell carcinoma(BCC) and squamous cell carcinoma(SCC) is sometimes difficult, but clinically important, because SCC has worse prognosis than BCC. Cytokeratins(CKs) are the major component of intermediate filaments and are subdivided into at least 20 different polypeptides. Monoclonal antibodies developed against these individual keratins become very useful in the classification of the major types of epithelial tumors. OBJECTIVE: The purpose was to investigate the usefulness of CK staining in distinguishing BCC from SCC. METHODS: We studied 10 cases of BCC and 10 cases of SCC with 6 anticytokeratin antibodies including AE1, CAM5.2, CK7, CK16, CK10, and CK8. RESULTS: All cases of BCC and SCC stained with AE1. Six and 5 cases out of 10 cases of BCC stained with CAM5,2 and CK7, respectively, but all cases of SCC stained with neither CAM5.2 nor CK7. All cases of SCC stained with CK16, but all cases of BCC did not. Two out of 10 cases of SCC stained focally with CK10, while all cases of BCC did not stain with CK10. All cases of BCC and SCC did not stain with CK8. CONCLUSION: We conclude that a panel of antibodies for CKs including CK7, CAM5.2, and CK16 may be useful in distinguishing BCC from SCC. In particular, CK16 may be the most useful marker because it was positive for all cases of SCC while negative for all cases of BCC.
Antibodies ; Antibodies, Monoclonal ; Carcinoma, Basal Cell* ; Carcinoma, Squamous Cell* ; Classification ; Intermediate Filaments ; Keratins* ; Peptides ; Prognosis

A 25-year-old man with familial benign chronic pemphigus presented with a one-year history of a localized pruritic recurrent eruption on his perianal area, Physical examination showed moist, macerated, fissured and scaly patches on erythematous base, A biopsy specimen showed extensive intraepidermal separation containing acantholytic cells. Electron microscopic observation showed widened intercellular space, detachment of the tonofilaments from the desmosomes, and subsequent concentration of the tono filaments around the nucleus. Microvilli were elorigated, thinned and branehed. 1)esmosomes were reduced in number. This case is unique in its clinical location, showing no family tendency.
Adult ; Biopsy ; Desmosomes ; Extracellular Space ; Humans ; Intermediate Filaments ; Microvilli ; Pemphigus, Benign Familial* ; Physical Examination

The stiffness of cancer cells is attributable to intermediate filaments such as keratin. Perinuclear reorganization via phosphorylation of specific serine residue in keratin is implicated in the deformability of metastatic cancer cells including the human pancreatic carcinoma cell line (PANC-1). 12-O-Tetradecanoylphorbol-13-acetate (TPA) is a potent tumor promoter and protein kinase C (PKC) activator. However, its effects on phosphorylation and reorganization of keratin 8 (K8) are not well known. Therefore, we examined the underlying mechanism and effect of TPA on K8 phosphorylation and reorganization. TPA induced phosphorylation and reorganization of K8 and transglutaminase-2 (Tgase-2) expression in a time- and dose-dependent manner in PANC-1 cells. These effects peaked after 45 min and 100 nM of TPA treatment. We next investigated, using cystamine (CTM), Tgase inhibitor, and Tgase-2 gene silencing, Tgase-2's possible involvement in TPA-induced K8 phosphorylation and reorganization. We found that Tgase-2 gene silencing inhibited K8 phosphorylation and reorganization in PANC-1 cells. Tgase-2 gene silencing, we additionally discovered, suppressed TPA-induced migration of PANC-1 cells and Tgase-2 overexpression induced migration of PANC-1 cells. Overall, these results suggested that TPA induced K8 phosphorylation and reorganization via Tgase-2 expression in PANC-1 cells.
Cell Line ; Cystamine ; Gene Silencing ; Humans ; Intermediate Filaments ; Keratin-8* ; Phosphorylation* ; Protein Kinase C ; Serine

Metastasis is one of hallmarks of cancer and a major cause of cancer death. Combatting metastasis is highly challenging. To overcome these difficulties, researchers have focused on physical properties of metastatic cancer cells. Metastatic cancer cells from patients are softer than benign cancer or normal cells. Changes of viscoelasticity of cancer cells are related to the keratin network. Unexpectedly, keratin network is dynamic and regulation of keratin network is important to the metastasis of cancer. Keratin is composed of heteropolymer of type I and II. Keratin connects from the plasma membrane to nucleus. Several proteins including kinases, and protein phosphatases bind to keratin intermediate filaments. Several endogenous compounds or toxic compounds induce phosphorylation and reorganization of keratin network in cancer cells, leading to increased migration. Continuous phosphorylation of keratin results in loss of keratin, which is one of the features of epithelial mesenchymal transition (EMT). Therefore, several proteins involved in phosphorylation and reorganization of keratin also have a role in EMT. It is likely that compounds controlling phosphorylation and reorganization of keratin are potential candidates for combating EMT and metastasis.
Carcinogenesis* ; Cell Membrane ; Epithelial-Mesenchymal Transition* ; Humans ; Intermediate Filaments ; Neoplasm Metastasis ; Phosphoprotein Phosphatases ; Phosphorylation* ; Phosphotransferases

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