OBJECTIVE: To detect pathogenic mutation of DOCK6 gene in a patient with convulsive seizure and refractory epilepsy. METHODS: CytoScan HD-Array and next generation sequencing were used to detect the potential mutation in the patient. RESULTS: The proband has carried compound heterozygous mutations of c.188C>T (p.Arg63Gln) and c.5374C>T (p.Glu1792Lys) of the DOCK6 gene, which were respectively inherited from his mother and father. Neither mutation was reported previously. Bioinformatic analysis indicated that the two amino acids are highly conserved. Based on the ACMG guidelines, the c.188C>T mutation was predicted to be likely pathogenic, while the c.5374C>T mutation was of uncertain significance. CONCLUSION The compound heterozygous mutations of c.188C>T (p.Arg63Gln) and c.5374C>T (p.Glu1792Lys) of the DOCK6 gene probably underlie the disease in this patient.
Child ; Diabetes Mellitus, Type 2 ; Ectodermal Dysplasia ; genetics ; Guanine Nucleotide Exchange Factors ; genetics ; Humans ; Limb Deformities, Congenital ; genetics ; Mutation ; Pedigree ; Scalp Dermatoses ; congenital ; genetics

BACKGROUND: Tinea capitis manifests either as a non-inflammatory or inflammatory type including kerion, which may cause permanent alopecia. In addition to antifungals, systemic corticosteroids (prednisolone at 1~2 mg/kg/day) have been used to reduce inflammation in patients with kerion. OBJECTIVE: We studied the clinical and laboratory features, treatments, and prognosis of tinea capitis. METHODS: We performed a retrospective review of 12 cases of kerion and 12 cases of non-inflammatory tinea capitis (median age, 8 years; range, 3 months~80 years) diagnosed using a potassium hydroxide mount at the National Health Insurance Service Ilsan Hospital between November 2011 and April 2018. RESULTS: Fungal cultures showed Microsporum species in 6 cases and Trichophyton species in 1 case. The duration of diseases and extent of lesions were greater in the kerion group than in the non-inflammatory tinea capitis group (p<0.05). Sixteen patients were treated with systemic antifungals. In the kerion group, 10 patients were treated with systemic antifungals (6 with itraconazole [median, 26 days; range, 21~58 days] and 4 with terbinafine [median, 24.5 days; range, 13~31 days]). The median intervals between the onset of treatment and scalp clearing (in 10 cases), the onset of new hair growth (in 9 cases), and complete regrowth of hair (in 7 cases) were 27 (range, 13~77), 33 (range, 19~63), and 89 (range, 42~180) days, respectively, in the kerion group. The median dosage of prednisolone used in patients with kerion was 0.26 mg/kg/day (range, 0.15~0.42) with good clinical response. CONCLUSION: The patients with kerion responded well to antifungal treatments. A lower dose of prednisolone was adequate when systemic corticosteroids were required for the treatment of kerion.
Adrenal Cortex Hormones ; Alopecia ; Hair ; Humans ; Inflammation ; Itraconazole ; Microsporum ; National Health Programs ; Potassium ; Prednisolone ; Prognosis ; Retrospective Studies ; Scalp ; Tinea Capitis ; Tinea ; Trichophyton

Betaine derivatives are considered major ingredients of shampoos and are commonly used as antistatic and viscosity-increasing agents. Several studies have also suggested that betaine derivatives can be used as antimicrobial agents. However, the antifungal activity and mechanism of action of betaine derivatives have not yet been fully understood. In this study, we investigated the antifungal activity of six betaine derivatives against Malassezia restricta, which is the most frequently isolated fungus from the human skin and is implicated in the development of dandruff. We found that, among the six betaine derivatives, lauryl betaine showed the most potent antifungal activity. The mechanism of action of lauryl betaine was studied mainly using another phylogenetically close model fungal organism, Cryptococcus neoformans, because of a lack of available genetic manipulation and functional genomics tools for M. restricta. Our genome-wide reverse genetic screening method using the C. neoformans gene deletion mutant library showed that the mutants with mutations in genes for cell membrane synthesis and integrity, particularly ergosterol synthesis, are highly sensitive to lauryl betaine. Furthermore, transcriptome changes in both C. neoformans and M. restricta cells grown in the presence of lauryl betaine were analyzed and the results indicated that the compound mainly affected cell membrane synthesis, particularly ergosterol synthesis. Overall, our data demonstrated that lauryl betaine influences ergosterol synthesis in C. neoformans and that the compound exerts a similar mechanism of action on M. restricta.
Anti-Infective Agents ; Betaine ; Cell Membrane ; Cryptococcus ; Cryptococcus neoformans ; Dandruff ; Ergosterol ; Fungi ; Gene Deletion ; Genetic Testing ; Genomics ; Humans ; Malassezia ; Methods ; Skin ; Transcriptome

OBJECTIVES: To collect single piece of dandruff with microscopes to improve the regular EZ-tape method for DNA extraction and genotyping, increase the utilization of samples, reduce the miss rate as well as the proportion of genotyping results of mixed stains. METHODS: The insides of the hats worn by two volunteers were stuck by EZ-tape and scotch tape respectively. DNA on EZ-tape was directly extracted using traditional method. Single piece of dandruff was collected from the scotch tapes under microscope. The two kinds of methods were both performed under continuous oscillation and standing digestion, respectively. DNA was extracted through Chelex-100 method, and STR genotypes were obtained after amplification and electrophoresis. The results of STR genotypes obtained by EZ-tape method and single piece of dandruff analytical method were compared. RESULTS: Miss detections happened in 11 samples （45.8%） by EZ-tape method and only single-source typing results were obtained. Ten samples （41.7%） showed the genotype results of mixed stain and six of which showed allele insertions and deletions. The genotype results were obtained successfully using the single piece of dandruff analytical method, and two samples showed mixed stain genotype. The number of exact typing processed by oscillation was higher than that by standing digestion （ P<0.05）. CONCLUSIONS The oscillation during the DNA extraction process is in favour of the DNA releasing. Single piece of dandruff analytical method can be used to obtain single-source STR genotype with high successful ratio and low miss rate. This method can be a collection method of special samples such as dandruff in forensic practice.
Alleles ; DNA/analysis* ; DNA Fingerprinting/methods* ; Dandruff/genetics* ; Genotype ; Humans ; Microsatellite Repeats ; Resins, Synthetic

Cutaneous metastases of malignant tumors are relatively rare, and breast cancer is the most common malignancy in women with cutaneous metastases. Since newly developed cutaneous lesions can be the first signs of metastases in breast cancer patients, it is crucial to rule out the possibility of malignancy. Although only a few cases have been reported, breast cancer contributes to a large portion of scalp metastases. This case report demonstrates a rare case of breast cancer metastasis only confined to the scalp. The patient was a 55-year-old woman who was diagnosed with scalp metastasis from breast cancer 10 years after the first curative surgery. The scalp lesion was palpable for 4 years and showed a sudden increase in size over a few months. The patient underwent wide excision with flap coverage. After surgery the patient received radiotherapy, but she has refused additional hormonal therapy. To date, there is no evidence of disease recurrence.
Breast Neoplasms* ; Breast* ; Female ; Humans ; Middle Aged ; Neoplasm Metastasis* ; Radiotherapy ; Recurrence ; Scalp Dermatoses ; Scalp*

No abstract available.
Humans ; Microsporum* ; Siblings* ; Tinea Capitis* ; Tinea*

Favus is a chronic dermatophyte infection of the scalp presented by thick yellow crusts within the hair follicles which leads to scarring alopecia. Favus is associated with poor hygiene and malnutrition so that it is seen almost exclusively in Africa, the Middle East and parts of South America with abruptly decreased incidence nowadays. The last report referring favus was published in 1996 in Korea, which might have historical significance. Herein, we report favus diagnosed in siblings in 1979.
Africa ; Alopecia ; Arthrodermataceae ; Cicatrix ; Hair Follicle ; Humans ; Hygiene ; Incidence ; Korea ; Malnutrition ; Middle East ; Scalp ; Siblings* ; South America ; Tinea Favosa*

BACKGROUND: Tinea capitis has been recognized as the most commonly misdiagnosed scalp disease. Inappropriate medication and delayed intervention leads to a broad array of complications from prolongation of treatment to scarring of the scalp. The financial deficits and problems imparted on patients continue to be a clinical and social burden. OBJECTIVE: The clinical and financial aspects between the initially misdiagnosed group and the properly diagnosed group were analyzed, to provide the epidemiologic basis and to address improvements for misdiagnoses of tinea capitis. METHODS: A retrospective review of electronic and written chart was performed on all patients diagnosed of tinea capitis at Daegu Catholic University Medical Center (DCUMC) from January 2006 to June 2016. A total of 100 patients were included in the study and an initially misdiagnosed group and initially diagnosed group were evaluated. RESULTS: Significant differences between the groups were not observed in variables including age, sex and occupation. The highest diagnostic precision was observed in dermatologists (78.4%) by using standard microscopic (31.0%) and culture studies (13.0%). Misdiagnosis rate was highest in pediatrics (34.9%) and erroneous examination such as laboratory test (48.4%) and Gram stain (19.4%) were countered in the misdiagnosed group. Additional clinic visits, prescriptions and extra trips to clinics resulted financial disadvantage in the misdiagnosed group. CONCLUSION: The misdiagnosed tinea capitis was found to arise from unawareness of the disease that leads to inappropriate approach and medication prescription. The duration, complications and financial loss were reported to be higher in misdiagnosed group based on the study.
Academic Medical Centers ; Ambulatory Care ; Cicatrix ; Daegu ; Diagnostic Errors ; Humans ; Occupations ; Pediatrics ; Prescriptions ; Retrospective Studies ; Scalp ; Tinea Capitis* ; Tinea*

While mycological examinations, potassium hydroxide preparation, and fungus culture remain the gold standard for the diagnosis of superficial dermatomycoses, mycological procedures have limitations because they are rather complex, time-consuming, and require skilled personnel and additional mycological tools. Dermoscopy is a simple, non-invasive diagnostic technique that allows better visualization of morphologic structures of the skin than the naked eye. It is easily performed with a hand-held dermoscope and allows immediate diagnosis. It has been primarily used to evaluate pigmented skin lesions, but recent advances indicate that it can also be a useful and convenient tool for diagnosing superficial dermatomycoses. The determination of specific dermoscopic patterns of fungal infection, especially in selected cases involving terminal hairs or nails, could lead to a straightforward diagnosis and facilitate their differentiation from non-fungal skin diseases. In addition, dermoscopy permits better inspection of subtle clinical features caused by fungi that are less evident to the naked eye; thus, in most cases, it can enhance clinician's diagnostic accuracy and confidence level, and allow determination of the best site for adequate mycological sampling as well as therapeutic monitoring. However, it should be a part of the evaluation in combination with other mycological tests because it does not substitute confirmatory examination for superficial dermatomycoses.
Dermatomycoses* ; Dermoscopy* ; Diagnosis ; Fungi ; Hair ; Onychomycosis ; Potassium ; Skin ; Skin Diseases ; Tinea Capitis

Zinc pyrithione (ZP) is commonly used to prevent dandruff and seborrheic dermatitis. Many consumers are exposed daily to high doses of ZP, causing serious concerns about its toxicity. The reproductive and developmental toxicities were previously reported in pregnant rats. However, the estrogenic activity of ZP at varying degrees of exposure has been rarely studied. Thus, we performed an uterotrophic assay, E-screen assay, and gene expression profiling to assess the estrogenic activity of ZP. For the uterotrophic assay, ZP (2, 10, or 50 mg/kg/d) was subcutaneously administered to ovariectomized rats every day for three days. Uteri were extracted 24 hours after the last dose. Then, wet and blotted uterine weights were measured. For the E-screen essay, MCF-7 cells (a breast cancer cell line) were exposed to 10⁻⁹ to 10⁻⁶ M of ZP, and cell proliferation was then measured. For the gene expression analysis, changes of gene expression levels in uterine samples taken for the uterotrophic assay were analyzed. In the uterotrophic assay, the concentration of ZP had no significant effect on uterine weight. In the E-screen assay, ZP at any concentration showed no significant increase in MCF-7 cell proliferation, compared to the control group. However, 10⁻⁶ M of ZP significantly reduced cell viability. The changes in gene expression slightly differed between the ZP and control groups. The in vivo and in vitro assays, together with gene expression analysis, demonstrated that ZP showed no significant estrogenic activity.
Animals ; Breast Neoplasms ; Cell Proliferation ; Cell Survival ; Dandruff ; Dermatitis, Seborrheic ; Estrogens* ; Gene Expression ; Gene Expression Profiling ; In Vitro Techniques* ; MCF-7 Cells ; Rats ; Uterus ; Weights and Measures ; Zinc*