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TRPS1 유전자의 새로운 과오돌연변이를 보인 제 3형 모발-비-수지 이형성 증후군
노동영 ( Dongyoung Roh ),김태욱 ( Tae-wook Kim ),박성민 ( Sung-min Park ),이현주 ( Hyun-joo Lee ),진현주 ( Hyunju Jin ),유향석 ( Hyang-suk You ),심우행 ( Woo-haing Shim ),김건욱 ( Gun-wook Kim ),김훈수 ( Hoon-soo Kim ),김병수 ( By 대한피부과학회 2018 大韓皮膚科學會誌 Vol.56 No.8
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. (Korean J Dermatol 2018;56(8):494∼498)
노동영 ( Dongyoung Roh ),김우일 ( Woo-il Kim ),양민영 ( Min-young Yang ),이원구 ( Won-ku Lee ),김태욱 ( Tae-wook Kim ),박성민 ( Sung-min Park ),이현주 ( Hyun-joo Lee ),김건욱 ( Gun-wook Kim ),김훈수 ( Hoon-soo Kim ),김병수 ( Byung 대한피부과학회 2019 大韓皮膚科學會誌 Vol.57 No.1
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. (Korean J Dermatol 2019;57(1):32∼35)
전기외과술로 치료한 안면의 다발성 피부 Rosai-Dorfman Disease 1예
이진수 ( Jinsu Lee ),이기욱 ( Gi-wook Lee ),신준오 ( Jun-oh Shin ),노동영 ( Dongyoung Roh ),김연아 ( Yeona Kim ),원상현 ( Sang-hyeon Won ),이정수 ( Jungsoo Lee ),신기혁 ( Kihyuk Shin ),김훈수 ( Hoonsoo Kim ),고현창 ( Hyunchang Ko 대한피부과학회 2023 대한피부과학회지 Vol.61 No.10
Cutaneous Rosai-Dorfman disease (RDD) is a rare, benign condition mainly affecting the lymph nodes and sometimes involving the skin. RDD is notorious for its poor response to medication, and surgery is often the preferred treatment option for limited lesions. Herein, we present a case of cutaneous RDD in a 49-year-old woman with multiple facial nodules that showed minimal response to treatment with steroids, isotretinoin, and methotrexate. The diagnosis of cutaneous RDD was confirmed based on histopathological examination. The patient showed minimal response to medication; however, electrosurgery resulted in a relatively good cosmetic response. The present case demonstrates that electrosurgery can be an effective treatment option for cutaneous RDD, especially in case of patients with multiple lesions. The rarity of this disease and the limited reports on its management highlights the need for further research on the efficacy of different surgical modalities for cutaneous RDD. (Korean J Dermatol 2023;61(10):639∼642)