No abstract available.
Bowen's Disease ; Fingers

No abstract available.
Knee* ; Nevus* ; Organoids*

Usher syndrome type II (USH2) is the most common form of Usher syndrome, characterized by moderate to severe hearing impairment and progressive visual loss due to retinitis pigmentosa. It has been shown that mutations in the USH2A gene are responsible for USH2. The authors herein describe a 34-year-old Korean woman with the typical clinical manifestation of USH2; she had bilateral hearing disturbance and progressive visual deterioration, without vestibular dysfunction. Molecular genetic study of the USH2A gene revealed a novel frameshift mutation (c.2310delA; Glu771LysfsX17). She was heterozygous for this mutation, and no other mutation was found in USH2A, suggesting the possibility of an intronic or large genomic rearrangement mutation. To the best of our knowledge, this is the first report of a genetically confirmed case of USH2 in Korea. More investigations are needed to delineate genotype-phenotype correlations and ethnicity-specific genetic background of Usher syndrome.
Female ; Frameshift Mutation ; Genetic Association Studies ; Hearing ; Hearing Loss ; Humans ; Introns ; Korea ; Molecular Biology ; Retinitis Pigmentosa ; Usher Syndromes

Congenital melanocytic nevi (CMN) are benign pigmented lesions that are defined as a tissue malformation of the neuroectoderm. Giant melanocytic nevi with multifocal involvement show significantly greater risk of developing malignant melanomas and neurocutaneous melanocytosis, particularly those in a posterior axial location. Neurocutaneous melanosis is a rare, congenital, non-inherited disorder characterized by the presence of large, multiple congenital melanocytic nevi with proliferation of melanocytes in the central nervous system. Asymptomatic neurocutaneous melanosis can be detectable only by MRI. The patients who have clinical manifestations have an extremely poor prognosis. We present a patient with giant congenital melanocytic nevi involving a major portion of the back with multiple satellite nevi scattered over the whole body associated with asymptomatic neurocutaneous melanosis. We emphasize the importance of imaging study for detection of early neurological symptoms or melanomas. To our knowledge, this is the first case of giant congenital melanocytic nevi associated with asymptomatic neurocutaneous melanosis in Korean dermatologic literatures.
Central Nervous System ; Humans ; Magnetic Resonance Imaging ; Melanocytes ; Melanoma ; Melanosis ; Neural Plate ; Neurocutaneous Syndromes ; Nevus ; Nevus, Pigmented ; Prognosis

Proliferating trichilemmal tumor (PTT) is an uncommon neoplasm originated from the outer root sheath of a hair follicle. Malignant transformation occurs occasionally in proliferating trichilemmal tumors, which can be manifested by sudden rapid growths. Histologically, the malignant proliferating trichilemmal tumors (MPTTs) have shown severe nuclear atypia, marked cellular pleomorphism with atypical mitoses, dyskeratotic cells and infiltrating margins. Squamous cell carcinoma (SCC) should be differentiated with MPTT which indicates characteristic trichilemmal keratinization. Large tumor is considered as a risk factor of metastasis in SCC, but the relationship between tumor size and metastasis in the MPTT is not yet clarified. In this report, two patients have large erythematous nodules with focal ulceration and necrosis on their scalps and were diagnosed as MPTT. Despite the large sizes of the tumors, there were no evidences of metastases. Herein, we report 2 cases of the large MPTT which are presented without metastasis.
Carcinoma, Squamous Cell ; Hair Follicle ; Humans ; Mitosis ; Necrosis ; Neoplasm Metastasis* ; Risk Factors ; Scalp* ; Ulcer

OBJECTIVES: The aim of this study was to compare the hearing outcomes between canal wall up mastoidectmy (CWUM) and canal wall down mastoidectmy (CWDM). METHODS: One hundred seventy one chronic suppurative otitis media (CSOM) patients were enrolled in this retrospective study. The patients who underwent the second staged ossiculoplasty at least 6 months after mastoidectomy and who had an intact, well aerated tympanic cavity as well as intact mobile stapes at the time of operation were selected from the medical record. Based on the type of mastoid surgery, the patients were categorized into two groups: the CWUM (n=38) and CWDM groups (n=133). The hearing results of the CWUM and CWDM groups were compared using the pre- and post-operative air-bone gap (ABG) at 3 months after ossiculoplasty. RESULTS: The preoperative ABG in both groups (CWUM and CWDM) were 28.4+/-15.6 dB and 31.8+/-14.5 dB, respectively (P=0.18). Both groups didn't show any significant difference (10.9 dB vs. 13.5 dB, respectively) (P=0.21) for the postoperative ABG closure. The proportion of patients with an ABG less than 20 dB was 58.6% of the CWDM patients and 68.4% of the CWUM patients (P=0.25). CONCLUSION: The type of mastoid surgery (CWUM and CWDM) did not affect the hearing results of CSOM patients. When choosing the type of mastoidectomy procedure for CSOM surgery, the hearing outcomes are basically the same for both types of procedure.
Ear, Middle ; Hearing ; Humans ; Mastoid ; Medical Records ; Otitis Media ; Otitis Media, Suppurative ; Retrospective Studies ; Stapes

Seborrheic keratosis is a common benign epidermal tumor. Although the etiology of seborrheic keratosis is unknown, a genetic predisposition, sun exposure and viral infection are possible factors. It also can be associated with auto-inoculation or chronic stimuli by friction. We experienced two cases of seborrheic keratosis with continuous arrangement along the frictional areas of the inguinal skin. Because there were no triggering factors, including sun exposure or human papilloma virus infection, we thought repetitive frictions or auto-inoculation might be related to these cases. Herein, we report on two cases of seborrheic keratosis that developed along the frictional areas of the inguinal skin.
Friction ; Genetic Predisposition to Disease ; Humans ; Keratosis, Seborrheic ; Papilloma ; Skin ; Solar System ; Viruses

BACKGROUND AND OBJECTIVES: The Chronic Ear Survey (CES) has been known to be a valid, disease-specific measure for the evaluation of health status and treatment effectiveness for chronic otitis media patients. As part of this study, we developed a Korean version by adapting from this CES, determined its reliability and validity. MATERIALS AND METHOD: The development of the Korean version of CES (K-CES) included the processes of standard independent translation and cross-cultural adaptation to check for cultural inconsistency. The finalized K-CES was administered to 166 patients visiting 10 referral hospitals in a prospective manner. K-CES was validated by using the Cronbach's alpha coefficient, confirmatory factor analysis and test-retest analysis for reliability and validity. The 36-Item Short Form Health Survey Instrument (SF-36) was assessed and the result was used to evaluate the criterion validity. RESULTS: The K-CES demonstrated good test-retest reliability and internal consistency (Cron-bach's alpha=0.850). Scale-item correlation coefficient was even higher than 1.0, which shows a very high reliability of K-CES. The validity of K-CES, checked by confirmatory factor analysis, also showed good construct validity. There was high correlation between SF-36 and the scores of K-CES, which indicates high criterion validity. CONCLUSION: We concluded that K-CES is a valid tool for clinical use and research studies in Korean patients with chronic otitis media.
Ear ; Health Surveys ; Humans ; Otitis Media ; Prospective Studies ; Referral and Consultation ; Reproducibility of Results ; Treatment Outcome

OBJECTIVES: Hearing impairment (HI) is the most common sensory deficit in human. The Gap Junction Protein, Beta-2 (GJB2) gene encodes the protein connexin 26, and this gene accounts for up to half of the cases of autosomal recessive nonsyndromic HI. This study was conducted to obtain a set of sequence variations (SVs) of the GJB2 gene among Koreans from the general population for making molecular genetic diagnoses and performing genetic counseling. METHODS: We resequenced the GJB2 gene in 192 chromosomes from 96 adult individuals of Korean descent and who were without a history of hearing difficulty. The data of the SVs was obtained and the haplotypes were reconstructed from the data. RESULTS: Five SVs were observed, including a novel one (c.558G>A; p.T186T), with the allele frequencies ranging from 0.5% (1/192) to 41% (79/192). The linkage disequilibrium study and haplotype construction showed that some of the SVs are in tight linkage, resulting in a limited number of haplotypes. CONCLUSION: We observed SVs of the GJB2 gene with different allele frequencies, and a limited number of haplotypes were constructed. The data from this study can be used as reference data for GJB2-related hearing genetic studies, including studies on the founder effect and population genetics, and this data is particularly relevant to people of East Asian decent.
Adult ; Asian Continental Ancestry Group ; Connexins ; Founder Effect ; Gene Frequency ; Genetic Counseling ; Genetics, Population ; Haplotypes ; Hearing ; Hearing Loss ; Humans ; Korea ; Linkage Disequilibrium ; Molecular Biology