BACKGROUND: Microdeletion syndromes not detectable by conventional cytogenetic analysis have been reported to occur in approximately 5% of patients with unexplained mental retardation (MR). Therefore, it is essential to ensure that patients with MR are screened for these microdeletion syndromes. Mental retardation syndrome multiplex ligation-dependent probe amplification (MRS-MLPA) is a new technique for measuring sequence dosages that allows for the detection of copy number changes of several microdeletion syndromes (1p36 deletion syndrome, Williams syndrome, Smith-Magenis syndrome, Miller-Dieker syndrome, DiGeorge syndrome, Prader-Willi/Angelman syndrome, Alagille syndrome, Saethre-Chotzen syndrome, and Sotos syndrome) to be processed simultaneously, thus significantly reducing the amount of laboratory work. METHODS: We assessed the performance of MLPA (MRC-Holland, The Netherlands) for the detection of microdeletion syndromes by comparing the results with those generated using FISH assays. MLPA analysis was carried out on 12 patients with microdeletion confirmed by FISH (three DiGeorge syndrome, four Williams syndrome, four Prader-Willi syndrome, and one Miller-Dieker syndrome). RESULTS: The results of MLPA analysis showed a complete concordance with FISH in 12 patients with microdeletion syndromes. CONCLUSIONS: On the basis of these results, we conclude that MLPA is an accurate, reliable, and cost-effective alternative to FISH in the screening for microdeletion syndromes.
*Chromosome Deletion ; Classical Lissencephalies and Subcortical Band Heterotopias/genetics ; DiGeorge Syndrome/genetics ; Humans ; In Situ Hybridization, Fluorescence/*methods ; Laboratories, Hospital ; Mental Retardation/*diagnosis/genetics ; Nucleic Acid Amplification Techniques/*methods ; Prader-Willi Syndrome/genetics ; Williams Syndrome/genetics

Over the past years, hydrocolloid dressings have been introduced routinely in the treatment of various types of wounds. They provide a moist environment promoting autolytic debridement, and stimulate angiogenesis. However, long-term application often leads to inflammation of the skin in the immediate area of the ulcer, causing irritant dermatitis in many cases, but sometimes also leads to contact sensitization. A 32 year-old woman burnt herself by an iron, and presented to our clinic and was treated with Duoderm extrathin(R). Nine days later, she again presented with an erythematous oozing patch with edema, and allergic contact dermatitis was suspected. A patch test (TRUE test) was performed and a positive reaction to colophonium was obtained. Duoderm extrathin(R) contains hydrogenated rosin (colophonium) as the tackifying agent, so we could diagnose this case as allergic contact dermatitis due to the hydrogenated rosin in Duoderm extrathin(R). We report another case of allergic contact dermatitis due to Duoderm extrathin(R) in a 32 year-old woman.
Bandages, Hydrocolloid ; Debridement ; Dermatitis, Allergic Contact ; Dermatitis, Irritant ; Edema ; Female ; Humans ; Hydrogen ; Inflammation ; Iron ; Patch Tests ; Resins, Plant ; Skin ; Ulcer

BACKGROUND: The zebrafish, Danio rerio, is a small bony fish that has genetic information and organ systems similar to those seen in human beings. The zebrafish has many advantages as an experimental animal model. There have been studies of zebrafish skin, especially epidermis, but there have been no studies about the elastic fibers in zebrafish skin. OBJECTIVE: The purpose of this study was to investigate the age-related, ultrastructural changes seen in the elastic fibers in zebrafish skin using electron microscopy. METHODS: We examined zebrafish skin using elastic tissue stains, the results of which were confirmed with polymerase chain reaction. We observed the ultrastructural features and age-related degenerative changes using transmission electron microscopy. RESULTS: Elastic fibers existed as a band-like layer beneath the epidermal basement membrane in zebrafish skin, which consisted of electron-dense homogeneous core material and microfibrils surrounding it and scattered inside. Elastic fibers were prominent and compact at 30 days post-fertilization. However, with aging, they started to develop small cysts and lacunae, and finally became fragmented and cracked. CONCLUSION: In zebrafish skin, elastic fibers exist beneath the epidermal basement membrane and, similar to human elastic fibers, show morphologic changes with age. Therefore, this study suggests that zebrafish skin may be useful in elastic tissue research.
Aging ; Basement Membrane ; Coloring Agents ; Elastic Tissue ; Electrons ; Epidermis ; Humans ; Microfibrils ; Models, Animal ; Polymerase Chain Reaction ; Skin ; Zebrafish

Cellular schwannoma is a benign nerve sheath tumor which presents as a slowly growing tumor in the paravertebral region of the mediastinum and retroperitoneum in middle-aged adults. However it is extremely rare in the oral region. To our knowledge, this is the first report of oral cellular schwannoma in Korean dermatologic literature. Histopathologically, the tumor is characterized by the presence of compact spindle cells arranged into fascicles, variable nuclear hyperchromasia and pleomorphism, lack of Verocay bodies and typical predominance of Antoni A areas. We report a case of cellular schwannoma arising on the lip, which is a very rare location.
Adult ; Humans ; Lip ; Mediastinum ; Neurilemmoma

BACKGROUND: Cell death is divided into two types, cell necrosis and apoptosis. In contrast to cell necrosis, an apoptotic cell is ingested by phagocytes and apoptosis is not accompanied by local inflammatory cells. Recently, apoptosis is considered to be involved in the pathogenesis of autoimmune diseases. OBJECTIVE: We investigated the presence of apoptotic cells in discoid lupus erythematosus, lichen planus, and psoriasis which are cutaneous autoimmune diseases, and also in erythema multiforme, which is not an autoimmune disease and of which characteristic in histopathologic features is necrotic keratinocytes. METHODS: A total of forty-six skin biopsy specimens were chosen. The specimen is made up of ten of each discoid lupus erythematosus, lichen planus, psoriasis, erythema multiforme and six of normal skin. We performed TUNEL stain on each specimen to observe apoptotic cells in the epidermis and dermis. The mean numbers of apoptotic cells were compared using the Kruskal-Wallis test and post hoc according to Conover. RESULTS: In discoid lupus erythematosus, apoptotic cells were observed as the most common disease in the epidermis and also in the dermis. In lichen planus, apoptosis was rarely observed in the epidermis, but was observed as the second common disease in the dermis. In psoriasis, apoptosis was rarely observed in both the epidermis and dermis. In erythema multiforme, apoptosis was observed in both the epidermis and dermis, and especially observed as the second common disease in the epidermis among four diseases. CONCLUSION: Apoptosis may contribute to pathogenesis of discoid lupus erythematosus and also in part to lichen planus and erythema multiforme. However, in psoriasis, apoptosis was rarely observed and resistance to apoptosis may be involved in the pathogenesis of psoriasis.
Apoptosis ; Autoimmune Diseases ; Biopsy ; Cell Death ; Dermis ; Epidermis ; Erythema Multiforme ; In Situ Nick-End Labeling ; Lichen Planus ; Lupus Erythematosus, Discoid ; Necrosis ; Phagocytes ; Psoriasis ; Skin

Eccrine porocarcinoma (EP) is a rare malignant tumor arising from the intraepidermal eccrine duct. The tumor cells frequently contain glycogen, but prominent clear cell changes in EP are rarely reported. A 78-year-old woman presented with a slightly pruritic, erythematous, verrucous plaque on her left thigh. Histopathological examination revealed intraepidermal tumor cell nests composed of small basaloid cells and duct-like structures lined by periodic acid-Schiff (PAS)-positive cuticles. Besides the typical findings of EP, clear cell changes were predominantly observed in the tumor cell aggregations. Herein we report a case of the clear cell variant of EP rarely reported in previous literature.
Aged ; Cell Aggregation ; Eccrine Porocarcinoma ; Female ; Glycogen ; Humans ; Thigh

It was well received that well grounded behavioral theories were important in the development of effective nutrition education programs, but there are only a few programs available for Korean women. The objective of this study was to develop nutrition education programs for childbearing-aged women in Korea. Based on the findings of the needs assessment for the program and theoretical backgrounds, we developed behaviorally oriented tailored nutrition education program including motivation (MT), modifying (MD) and maintenance (MA) stages. The key concepts of the stages were motivation promotion for MT, increasing behavioral capabilities for MD, and strengthening self-management and building favorable environmental condition for MA. The education program was intended to be need in individual nutrition counseling, but it could be well used for group education by developing materials using the relevant contents. The primary users of the program were nutrition educators, however it could be also used by clients as needed. The introductory chapter provided dietary assessment tools and nutrition education tips. MT chapter included subjects such as nutritional status screening, costs of inappropriate nutrition and weight management, benefits of eating right, and activities for motivation promotion. MD stage chapter dealt with topics of healthy weight, knowledges and skills for better eating habits and physical activity status, and activities related to setting tailored behavioral objectives. MA stage focused on facilitating self management skills and building helping relationships. Each stage underlined activities using various educational tools in order to promote active participation of the client (s). For better use of this program, it was recommended to conduct program validation study.
Counseling ; Eating ; Education* ; Female ; Humans ; Korea* ; Mass Screening ; Motivation ; Motor Activity ; Needs Assessment ; Nutritional Status ; Self Care

The purpose of this study was to investigate nutritional risk factors, perceptions on nutrition and health, nutritional knowledge, flood habits and their correlation to supplement use in middle-aged and elderly Koreans. A nationwide survey was conducted in the metropolitan areas (6 cities) and middle-sized cities (8 cities) of Korea from October to December, 2000. Subjects were randomly selected based on population, and 2,188 non-institutionalized adults aged over 50, and elderly (male 765, female 1,423) were studied. Data were collected using a standardized questionnaire administered in personal interviews. Nutrition and health-related scores of nutritional risk factors, perceptions on nutrition and health, nutritional knowledge, and flood habits were significantly higher in supplement users as compared to non-users. There was a negative correlation between nutritional risk factors and other nutrition and health-related scores on perceptions on nutrition and health, nutritional knowledge, flood habits, and pocket money. Also there was a positive correlation between nutritional risk factors and age. Therefore, these results may provide basic information for proper supplement use by middle-aged and elderly Koreans.
Adult ; Aged* ; Female ; Food Habits* ; Humans ; Korea ; Risk Factors* ; Surveys and Questionnaires

Mastocytosis is rare disorder characterized by the overproliferation and accumulation of tissue mast cells and spontaneous regression before adolescence in childhood, almost. Clinical features are vary and depend on local accumulation of mast cells in different organs and the effects of their mediators. Mast cell disease is commonly involved in the skin, and occasionally gastrointestinal tract, bone marrow, liver, spleen and lymphoid organs as well. Mastocytosis occurs equally in persons of each gender and it affects all age groups. The incidence is unknown and familial tendency is unusual. We are reporting a case of mastocytosis confirmed by skin biopsy who was visited for skin lesions that skin rashes at 10 days after birth, change to bullar at 3 month later.
Adolescent ; Biopsy ; Bone Marrow ; Exanthema ; Female* ; Gastrointestinal Tract ; Humans ; Incidence ; Infant* ; Liver ; Mast Cells ; Mastocytosis* ; Parturition ; Skin ; Spleen

PURPOSE: To evaluate the usefulness of quantitative analysis of the facial nerve using contrast-enhanced three-dimensional (CE 3D) fluid-attenuated inversion recovery-volume isotopic turbo spin echo acquisition (FLAIR-VISTA) for the diagnosis of Bell's palsy in pediatric patients. MATERIALS AND METHODS: Twelve patients (24 nerves) with unilateral acute facial nerve palsy underwent MRI from March 2014 through March 2015. The unaffected sides were included as a control group. First, for quantitative analysis, the signal intensity (SI) and relative SI (RSI) for canalicular, labyrinthine, geniculate ganglion, tympanic, and mastoid segments of the facial nerve on CE 3D FLAIR images were measured using regions of interest (ROI). Second, CE 3D FLAIR and CE T1-SE images were analyzed to compare their diagnostic performance by visual assessment (VA). The sensitivity, specificity, and accuracy of RSI measurement and VA were compared. RESULTS: The absolute SI of canalicular and mastoid segments and the sum of the five mean SI (total SI) were higher in the palsy group than in the control group, but with no significant differences. The RSI of the canalicular segment and the total SI were significantly correlated with the symptomatic side (P = 0.028 and 0.015). In 11/12 (91.6%) patients, the RSI of total SI resulted in accurate detection of the affected side. The sensitivity, specificity, and accuracy for detecting Bell's palsy were higher with RSI measurement than with VA of CE 3D FLAIR images, while those with VA of CE T1-SE images were higher than those with VA of CE 3D FLAIR images. CONCLUSION: Quantitative analysis of the facial nerve using CE 3D FLAIR imaging can be useful for increasing the diagnostic performance in children with Bell's palsy when difficult to diagnose using VA alone. With regard to VA, the diagnostic performance of CE T1-SE imaging is superior to that of CE 3D FLAIR imaging in children. Further studies including larger populations are necessary.
Bell Palsy* ; Child ; Diagnosis ; Facial Nerve* ; Geniculate Ganglion ; Humans ; Magnetic Resonance Imaging ; Mastoid ; Paralysis ; Sensitivity and Specificity