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

Lichen planus pigmentosus (LPP) is an uncommon variant of lichen planus, which manifests as hyperpigmented dark brown macular hyperpigmentations chiefly involving the face and upper extremities. The histopathologic changes consist of vacuolar degeneration of the basal layer, presence of dermal melanophages, and lichenoid lymphocytic infiltrations. LPP with exclusive localization in intertriginous areas is named as LPP-inversus, and is infrequently reported in previous dermatologic literature. A 16-year-old girl presented with several brownish to dark grayish patches on both axilla for 7 months. The lesions were asymptomatic and did not have preceding erythema. The patient had not come into contact with any chemicals and denied existence of previous allergy episodes, and her medical history was non-contributory. A skin biopsy from a brownish patch revealed vacuolar alteration of the basal layer, and band-like lymphocytic infiltration with pigment incontinence. We report a typical case of LPP-inversus with relevant literature.
Adolescent ; Axilla ; Biopsy ; Erythema ; Humans ; Hypersensitivity ; Lichen Planus ; Lichens ; Skin ; Upper Extremity

CD4+/CD56+ hematodermic neoplasm is a rare and aggressive lesion that affects many organs, and skin involvement is highly characteristic. It is also termed blastic natural killer cell lymphoma in the World Health Organization classification. Several origins of tumor cells have been proposed, but recent studies have shown a relationship with plasmacytoid dendritic cells. A 2-year-old boy presented with multiple bruise-like violaceous subcutaneous nodules and plaques on the trunk, upper and lower extremities. Histological examination showed small-to-medium-sized blastoid cellular infiltration in the dermis and subcutaneous tissue. Tumor cells were positive for CD4, CD56 and TdT, and negative for CD8, CD20 and MPO. It primarily affects elderly patients, but, in this case, occurred in an infant. Due to its rarity, we present a case of CD4+/CD56+ hematodermic neoplasm affecting a pediatric patient.
Aged ; Dendritic Cells ; Dermis ; Humans ; Infant ; Killer Cells, Natural ; Lower Extremity ; Lymphoma ; Preschool Child ; Skin ; Subcutaneous Tissue ; World Health Organization

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

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

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

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