A Novel Mutation in the MBTPS2 Gene Resulting in Ichthyosis Follicularis, Atrichia, and Photophobia Syndrome

Ichthyosis follicularis, atrichia, and photophobia (IFAP) syndrome is a rare genetic disorder caused by mutations in the MBTPS2 gene. It is characterized by ichthyosis and alopecia from birth. Photophobia may be present in infancy or early childhood. Its mode of inheritance is X-linked recessive; thus, it mostly affects male. The disease severity varies, ranging from mild cases limited to the skin to the severe variant involving multiple extracutaneous features. A 7-year-old boy presented with scanty hair on scalp and eyebrows at birth. On physical examination, scaly patches were observed on the whole body and spiky follicular hyperkeratotic papules were observed on the face and trunk. He also suffered from severe photophobia. Histopathological examination of the scalp showed miniaturized hair follicles without perifollicular fibrosis. Genetic analysis revealed a novel mutation in the MBTPS2 gene which was a homozygous missense mutation of c.245T>C leading to an amino-acid substitution from phenylalanine to serine (p.Phe82Ser). We diagnosed this patient with IFAP syndrome. To date, 25 pathogenic MBTPS2 gene mutations have been identified. To our knowledge, c.245T>C is a novel homozygous missense mutation in the MBTPS2 gene, which has not been reported in Human Gene Mutation Database, ClinVar Database, and Leiden Open Variation Database. Previous reports suggested genotype-phenotype correlations in the MBTPS2 gene mutations. Supported by a previous notion that genotype correlates with phenotype, this novel mutation can be a predictive factor for the mild form of IFAP syndrome, restricted to the classic symptom triad.

Urticaria Multiforme with Residual Pigmentation: Two Case Reports / 대한피부과학회지

Urticaria multiforme is a cutaneous condition observed in children. This self-limited condition is characterized by well-circumscribed, annular, and erythematous wheals, which spontaneously disappear within a few days. Patients commonly present with acral edema and show a favorable response to antihistamines. It is frequently misdiagnosed as erythema multiforme or serum sickness-like reaction owing to distinctive annular wheals with an ecchymotic center observed in patients. This condition was previously known as acute annular urticaria. The term urticaria multiforme was introduced in 2007 to highlight this specific variant of urticaria. We describe 2 patients with acral edema and transient annular wheals with dusky red centers, which were diagnosed as urticaria multiforme lesions. To our knowledge, the Korean literature includes only a single case report describing acute annular urticaria. However, the report does not use the term ‘urticaria multiforme’ to describe this condition.

Neck Nodule Manifested as the Presenting Sign of Recurred Papillary Thyroid Carcinoma after 17 Years of Total Thyroidectomy / 대한피부과학회지

No abstract available.

Trichorhinophalangeal Syndrome Type III Associated with a Novel Missense Mutation in the TRPS1 Gene / 대한피부과학회지

Trichorhinophalangeal syndrome (TRPS) is a rare autosomal dominant hereditary disease caused by mutations in the TRPS1 or the EXT1 gene. Patients show 3 different forms (TRPS I-TRPS III) of this condition sharing similar clinical features including sparse hair, a bulbous nose, an elongated philtrum, short stature, and shortened phalanges. A 10-year-old girl presented with sparse hair and thin hair shafts since birth. She also showed a bulbous nose, an elongated philtrum, brachydactyly of the great toes, and a short stature. Radiological examination showed cone-shaped epiphyses and shortened phalanges. Genetic analysis revealed a novel missense mutation c.2759G>C (p.Trp920Ser) in the TRPS1 gene. We diagnosed this patient with TRPS type III. To our knowledge, only 3 reports have described a genetically analyzed TRPS1 gene mutation among the 11 reported cases of TRPS in the Korean literature. Furthermore, we identified a novel missense mutation in the TRPS1 gene.

Public Awareness of Onychomycosis in Korean: A Survey of 621 Participants / 대한의진균학회지

BACKGROUND@#The prevalence of onychomycosis is increasing due to the recent increase of the elderly population and immunosuppressed individuals. Clinical studies on onychomycosis have been reported several times in Korea. However, the public awareness of onychomycosis has not received considerable attention, and there have been no Korean studies focused on it.@*OBJECTIVE@#To evaluate public awareness and experience of onychomycosis in Korean.@*METHODS@#A total of 621 participants were given questions developed for this survey. Sociodemographic characteristics, public awareness, general knowledge and experience about onychomycosis, and diagnostic and treatment behavior were surveyed.@*RESULTS@#According to this survey, 99.5% of respondents have heard of onychomycosis, 79.4% of respondents experienced onychomycosis suspicious symptoms, and 52.8% of them responded that onychomycosis can be completely cured only by cleansing the hands and feet. The rate of self-diagnosis was 64.1% among the respondents who experienced symptoms. Only 23.9% of the respondents who were diagnosed with onychomycosis visited the hospital for the first time. Of the respondents, 54.6% who were treated at the hospital discontinued their treatments before complete cure mainly because of long treatment period.@*CONCLUSION@#Participants were well aware of onychomycosis, but the rate of self-diagnosis was high. They generally agreed to the importance of hospital treatment, but the number of patients visiting hospital was low. Moreover, people frequently discontinue their hospital treatment despite insufficient treatment duration. Patient's behaviors need to be changed, and the roles of dermatologists are important in the diagnosis, treatment, and education of the patients.

Balanopreputial Adhesion and Paraphimosis due to Lichen Sclerosus

No abstract available.