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*

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

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

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

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

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

A 41 year-old man had dark pigmented papules and plaques, 4 to 15 mm in size, on the proximal portion of the dorsum of the penile shaft and pubic area of 8 months duration. Over next several months, flesh colored, macerated papules, 2 to 4 mm in size, appeared on the left side of the scrotum Light microscopic examination from a pigmented lesion of the penile shaft showed typical findings of Bowen's disease. Ultrastructural findings included: widening of intercellular space, a decrease in the number of desmosomes with microvillous projections, aggregation of tonofilaments, an increase in the mitotic keratinocytes, an increase in the number of melanin granules, and disorganized bundles of tonofilaments surrounding chromosomes. Virus-like particles were not observed. Based on the ultrastructural findings and review of literatures, it seems to be probable that bowenoid papulosis is a clinical variant of Bowens disease.
Adult ; Bowen's Disease ; Desmosomes ; Extracellular Space ; Genitalia* ; Humans ; Intermediate Filaments ; Keratinocytes ; Melanins ; Scrotum

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

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