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대한피부과학회> 대한피부과학회지> 증례 : 가족성 고콜레스테롤혈증 영아에서 발생한 간찰진 황색종 1예

KCI등재SCOUPUS

증례 : 가족성 고콜레스테롤혈증 영아에서 발생한 간찰진 황색종 1예

Case Report : Intertriginous Xanthoma in an Infant with Familial Hypercholesterolemia

김영욱 ( Young Uk Kim ) , 이승우 ( Seung Woo Lee ) , 김계정 ( Kea Jeung Kim ) , 허은필 ( Eun Phil Heo )
  • : 대한피부과학회
  • : 대한피부과학회지 52권3호
  • : 연속간행물
  • : 2014년 03월
  • : 178-181(4pages)
피인용수 : 15건

(자료제공: 네이버학술정보)

DOI


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Familial hypercholesterolemia is an autosomal dominant inherited metabolic disease characterized by high serum low-density lipoprotein (LDL) cholesterol concentrations, and xanthoma formation. There are multiple types of xanthomas, such as eruptive, tendinous, tuberous, and planar. Intertriginous xanthomas are rare, but, if present, are typically associated with familial homozygous hypercholesterolemia. We here report on a 15-month-old infant who presented with multiple yellowish linear patches and plaques on the intertriginous areas. Serum lipoprotein electrophoresis showed a marked increase in beta-fraction, suggesting type IIa hyperlipoproteinemia. Histopathology showed numerous aggregates of foam cells in the dermis. We performed DNA analysis and revealed the presence of an LDL receptor gene mutation. In summary, we here report an interesting case of an infant with intertriginous xanthoma. This condition is so rare that it has not been reported in the Korean dermatologic literature before. (Korean J Dermatol 2014;52(3):178∼181)

UCI(KEPA)

I410-ECN-0102-2014-500-001915997

간행물정보

  • : 의약학분야  > 피부과학
  • : KCI등재
  • : SCOPUS
  • : 월간
  • : 0494-4739
  • : 2713-7627
  • : 학술지
  • : 연속간행물
  • : 1960-2020
  • : 9355


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발행기관 최신논문
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1원저 : 입술의 피부질환에 대한 임상적 분석

저자 : 김석림 ( Seok Rim Kim ) , 김지연 ( Chi Yeon Kim )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 155-160 (6 pages)

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Background: Lip skin diseases are common findings in dermatology. However, most dermatologists are not familiar with the clinical features of lip skin diseases due to the special characteristics of the lip. Objective: This study aimed to evaluate the clinical and histopathological features of lip skin diseases. Methods: We retrospectively reviewed 259 patients who underwent biopsy for labial diseases at the Department of Dermatology from January 2002 to December 2011. We compared the clinical and histopathological diagnoses and analyzed the rate of concurrence and labial tumor distribution. In addition, demographic and clinical features, including age, sex, location, and disease duration, were investigated. Results: The mean age of the patients was 56.8 years and the male-to-female ratio was 1:0.77. Lip skin diseases accounted for 4.1% of all new patients during the study period, with the lower lip being the most commonly affected site (88.4%). The most common disease was actinic cheilitis (35.1%), followed by chronic cheilitis (11.6%), mucocele (10.0%), and squamous cell carcinoma (9.7%). The most common type of tumor was actinic cheilitis (54.8%), followed by mucocele (15.7%), squamous cell carcinoma (15.1%), hemangioma (4.2%), pyogenic granuloma (4.2%), keratoacanthoma (1.8%), and basal cell carcinoma (1.2%). Before the patients came to the university hospital, they received medical treatment at various clinics and departments, including dermatology clinics (55.3%), internal medicine (26.2%) and urology departments (10.7%), and general practitioners (9.7%). Conclusion: This study provides novel and useful data on the incidence and characteristics of lip skin diseases. Compared to previous studies, the frequency of lip tumors was relatively high and variable in this study. Based on these results, we advise physicians to, if in doubt, initially diagnose and treat for actinic cheilitis and labial tumors (especially squamous cell carcinoma) caused by long term exposure to the sun. (Korean J Dermatol 2014;52(3):155∼160)

2원저 : 630 nm Light Emitting Diode 조사가 인체섬유모세포의Caveolin-1과 전구콜라겐 I/III의 발현에 미친 영향

저자 : 최다인 ( Da In Choi ) , 최지영 ( Jee Young Choi ) , 김상엽 ( Sang Yub Kim ) , 윤숙정 ( Suk Jung Yun ) , 이지범 ( Jee Bum Lee ) , 이승철 ( Seung Chul Lee )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 161-168 (8 pages)

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Background: Recent studies indicate that light-emitting diodes (LED) may represent a novel and effective anti-aginglight source for the skin. Among many candidate molecules known to control collagens, caveolin-1 (Cav-1) is knownto play an inhibitory role in cutaneous collagen metabolism. Objective: This study aimed to evaluate the effects of LED irradiation on the expression levels of Cav-1 andprocollagens (proCOLs) in human dermal fibroblasts (HDFs). Methods: Cultured HDFs were irradiated with 630 nm LED at different doses, and the mRNA and proteinexpression levels of Cav-1 and proCOLs I/III were analyzed. Results: In LED-irradiated HDFs, mRNA and protein levels of Cav-1 were found to be down-regulated, whereasthose of proCOLs I/III were up-regulated in a dose-dependent manner. A negative correlation between Cav-1 andproCOLs was verified in Cav-1 siRNA transfected HDFs. LED was moreover found to result in up-regulation oftransforming growth factor (TGF)-β1 and its receptors (TβRI, TβRII), SMAD1, and SMAD2 mRNA levels,indicating that LED may activate the TGF-1/TβR/SMAD pathway in HDFs. Conclusion: The anti-aging effects of 630 nm LED on human skin are likely mediated by up-regulation of proCOLsI/III and inhibition of Cav-1 expression levels in HDFs.

3증례 : 첫 증상으로 피부궤양이 나타난 소아 피부근염

저자 : 권선용 ( Sun Yong Kwon ) , 채진경 ( Jin Kyung Chae ) , 박상현 ( Sang Hyun Park ) , 고주연 ( Joo Yeon Ko ) , 박석돈 ( Seok Don Park ) , 박건 ( Kun Park )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 169-172 (4 pages)

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Juvenile dermatomyositis is a common idiopathic inflammatory myopathy in childhood and is characterized by symmetric proximal muscle weakness and specific cutaneous manifestations. We here report on a 12-year-old boy who presented with violaceous maculopatches with multiple deep skin ulcerations on the right arm and lower back 4 months ago. One month after the initial visit, he had difficulty climbing stairs and elevating his arms above the head. Laboratory tests showed elevation of the serum levels of skeletal muscle enzymes, and electromyogram and muscle biopsy indicated myopathy. Histopathological analysis of the ulceration indicated necrotizing vasculitis and calcification. Based on these findings, his condition was diagnosed as juvenile dermatomyositis. We believe that this case is unique because of the difficulty in diagnosing the condition, as skin ulceration is a rare cutaneous manifestation of dermatomyositis. (Korean J Dermatol 2014; 52(3):169∼172)

4증례 : 제주지역에서 발생한 중증열성혈소판감소증후군 4예

저자 : 허상택 ( Sang Taek Heo ) , 천민석 ( Min Seok Cheon ) , 김재왕 ( Jae Wang Kim )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 173-177 (5 pages)

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Severe fever with thrombocytopenia syndrome (SFTS) is an emerging infectious disease caused by a novel SFTS bunyavirus (SFTSV), a member of the genus Phlebovirus in the family Bunyaviridae. SFTSV is believed to be transmitted by Haemaphysalis longicornis. Common symptoms of SFTS include high fever, vomiting, diarrhea, thrombocytopenia, leukocytopenia, and multi-organ failure with an average case-fatality rate of 12∼30%. In 2009, SFTS was firstly reported in China. In 2013, 27 cases of SFTS were documented in Korea, and 6 cases were confirmed on Jeju Island. Although the pathogenesis and transmission mode of SFTS remain unclear, SFTS is now considered endemic in East Asia. Accordingly, SFTS needs to be differentiated from scrub typhus, leptospirosis, and hemorrhagic fever with renal syndrome. We here report 4 cases of SFTS preceded by a tick bite, which were in need of a differential diagnosis of scrub typhus. (Korean J Dermatol 2014;52(3):173∼177)

5증례 : 가족성 고콜레스테롤혈증 영아에서 발생한 간찰진 황색종 1예

저자 : 김영욱 ( Young Uk Kim ) , 이승우 ( Seung Woo Lee ) , 김계정 ( Kea Jeung Kim ) , 허은필 ( Eun Phil Heo )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 178-181 (4 pages)

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Familial hypercholesterolemia is an autosomal dominant inherited metabolic disease characterized by high serum low-density lipoprotein (LDL) cholesterol concentrations, and xanthoma formation. There are multiple types of xanthomas, such as eruptive, tendinous, tuberous, and planar. Intertriginous xanthomas are rare, but, if present, are typically associated with familial homozygous hypercholesterolemia. We here report on a 15-month-old infant who presented with multiple yellowish linear patches and plaques on the intertriginous areas. Serum lipoprotein electrophoresis showed a marked increase in beta-fraction, suggesting type IIa hyperlipoproteinemia. Histopathology showed numerous aggregates of foam cells in the dermis. We performed DNA analysis and revealed the presence of an LDL receptor gene mutation. In summary, we here report an interesting case of an infant with intertriginous xanthoma. This condition is so rare that it has not been reported in the Korean dermatologic literature before. (Korean J Dermatol 2014;52(3):178∼181)

6증례 : 두피의 피지모반에서 발생한 편평세포암

저자 : 권선용 ( Sun Yong Kwon ) , 채진경 ( Jin Kyung Chae ) , 박상현 ( Sang Hyun Park ) , 박석돈 ( Seok Don Park ) , 박건 ( Kun Park )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 182-185 (4 pages)

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Nevus sebaceus is frequently complicated by development of a variety of other benign skin tumors. On the other hand, malignant skin tumors are rarely observed in associated with nevus sebaceous. The most common benign skin tumor developing in nevus sebaceus is trichoblastoma, while the most common malignant skin tumor is basal cell carcinoma. However, cases of squamous cell carcinoma developing within nevus sebaceous are rare. A 42-year-old man presented a solitary 3×3-cm sized hemorrhagic, crusted, verrucous mass on the left occipital scalp, which was congenital. He visited our clinic due to the mass rapidly enlarging over the past 3 years and due to bleeding of the mass in the past 3 months. Histopathologically, the tumor showed typical findings of well-differentiated nevus sebaceus and squamous cell carcinoma. We herein report a case of squamous cell carcinoma developing in nevus sebaceous. (Korean J Dermatol 2014; 52(3):182∼185)

7증례 : 양성질환으로 오인된 손톱주위에 편평세포암 2예

저자 : 김은지 ( Eun Jee Kim ) , 박송연 ( Song Youn Park ) , 김건 ( Geon Kim ) , 윤현선 ( Hyun Sun Yoon ) , 조소연 ( So Yun Cho ) , 박향준 ( Hyang Joon Park ) , 박현선 ( Hyun Sun Park )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 186-190 (5 pages)

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Squamous cell carcinoma of the nail apparatus is a rare phenomenon. Because of its indolent course and similar presentation to other benign conditions, correct diagnosis in the early stages is practically difficult. We here report two cases of periungual squamous cell carcinoma and squamous cell carcinoma in situ (Bowen`s disease). These cases emphasize the importance of extra vigilance and high suspicion when facing intractable atypical lesions on the fingers. Repetitive biopsy with exploratory nail plate extraction should be considered to acquire appropriate specimens, which is critical for early and correct diagnosis. (Korean J Dermatol 2014; 52(3):186∼190)

8증례 : 후천성 특발성 전신성 무한증 1예

저자 : 오상진 ( Sang Jin Oh ) , 정의현 ( Euy Hyun Chung ) , 이상훈 ( Sang Hoon Lee ) , 박영립 ( Young Lip Park ) , 이성열 ( Sung Yul Lee ) , 배유인 ( You In Bae )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 191-194 (4 pages)

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Acquired idiopathic generalized anhidrosis (AIGA) is a very rare disease, and its pathogenesis is poorly understood. We here report on a 20-year-old man presenting with a history of inability to sweat, small wheals, and occasional heat intolerance since 3 months. On provocation test, there was no sweating over the entire surface of the body, excluding the palms and axillae. His medical history was unremarkable and laboratory examination findings were all normal. There was no familial history suggestive of neuroendocrine disease. Based on these findings, we diagnosed acquired idiopathic generalized anhidrosis. To our knowledge, this is the first case of AIGA in Korean dermatologic literature. Herein, we report a rare case of AIGA. (Korean J Dermatol 2014; 52(3):191∼194)

9증례 : 595 nm Pulsed Dye Laser로 치료한 조갑 건선 1예

저자 : 장인규 ( In Kyu Chang ) , 김수정 ( Sue Jeong Kim ) , 이영 ( Young Lee ) , 김창덕 ( Chang Deok Kim ) , 서영준 ( Young Joon Seo ) , 이증훈 ( Jeung Hoon Lee ) , 임명 ( Myung Im )

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 195-197 (3 pages)

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Nail psoriasis is a common finding in psoriatic patients and is associated with substantial adverse effects on the patient`s quality of life. Although several treatment options are available, nail psoriasis tends to be persistent and refractory to therapy. Pulse dye laser (PDL) has been demonstrated to be effective for plaque-type psoriasis, but there are no reports on nail psoriasis being successfully treated with PDL in the Korean literature. We here report on a 46-year-old woman presenting with nail psoriasis recalcitrant to conventional treatment modalities, showing pitting, nail bed discoloration, and crumbling. We successfully treated the symptoms with 595 nm PDL, supporting the hypothesis that PDL may be a safe and effective therapeutic option in patients with recalcitrant nail psoriasis. (Korean J Dermatol 2014; 52(3):195∼197)

10입술에 발생한 신경섬유종

저자 : 오영준 , 이은주 , 유박린 , 심우영

발행기관 : 대한피부과학회 간행물 : 대한피부과학회지 52권 3호 발행 연도 : 2014 페이지 : pp. 198-199 (2 pages)

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신경섬유종은 신경중간엽의 성분으로 구성된 양성 종양으로, 유전 질환인 제1형 신경 섬유종증에서 흔히 동반된다. 신경섬유종의 3가지 종류 중, 미만성과 총상 신경섬유종이 제1형 신경섬유종증(von Recklinghausen`s disease)과 연관되어 있다. Greschickter는 신경 섬유종의 약 90%가 단발성으로 발생하며, 나머지는 제1형 신경섬유종증의 형태로 나타난다고 보고하였다1. 환자는 61세 여자로 아래 입술에 발생한 연성 구진으로 내원했다. 3년 전에 아랫입술 왼쪽 끝의 약간 내측으로 0.3×0.3 cm 크기의 연붉은색의 연성 구진이 발생하였고, 크기의 변화나 압통은 없었다. 병리조직검사에서 진피에 경계를 이루는 종양이 관찰되었고, 종양 내부에는 타원형 또는 방추형의 가늘고 구불하며 끝이 가는 세포들이 증식되어 있고, 기질은 옅은 호산성의 얇은 교원섬유들이 여러 방향으로 파도치는 소견을 보였고, 면역조직화학 염색상 방추형의 종양 세포들은 S-100 단백에 양성을 보여 신경섬유종에 합당했다. 보통, 단발성 신경섬유종은 진피와 피하지방층에 위치한 작은 말초신경에서 발생하므로 신체 어디에나 발생할 수 있으나, 체부와 두피에 호발한다2. Gupta 등은 양성 신경초 종양 303예 중 44.8%가 두경부에 나타났다고 보고하였다3. 그 중 입술에 발생한 단발성 신경 섬유종은 굉장히 드물어, 저자들이 조사한 바에 의하면 외국에서 드물게 보고된 바가 있었지만, 국내에서는 아직 보고가 없어 이에 흥미로운 증례로 생각되어 보고한다(Table 1)

12
주제별 간행물
간행물명 수록권호

KCI등재 SCI SCOUPUS

Annals of Dermatology
32권 3호 ~ 32권 3호

KCI등재 SCOUPUS

대한피부과학회지
58권 4호 ~ 58권 4호

KCI등재

대한화장품학회지(J. Soc. Cosmet. Scientists Korea)
46권 1호 ~ 46권 1호

KCI등재 SCOUPUS

대한피부과학회지
58권 3호 ~ 58권 3호

KCI등재 SCI SCOUPUS

Annals of Dermatology
32권 2호 ~ 32권 2호

KCI등재 SCOUPUS

대한피부과학회지
58권 2호 ~ 58권 2호

KCI등재

대한화장품학회지(J. Soc. Cosmet. Scientists Korea)
45권 4호 ~ 45권 4호

KCI등재 SCI SCOUPUS

Annals of Dermatology
32권 1호 ~ 32권 1호

KCI등재 SCOUPUS

대한피부과학회지
58권 1호 ~ 58권 1호

KCI등재 SCOUPUS

대한피부과학회지
57권 10호 ~ 57권 10호

프로그램북(구 초록집)
71권 1호 ~ 71권 1호

KCI등재 SCOUPUS

대한피부과학회지
57권 9호 ~ 57권 9호

프로그램북(구 초록집)
71권 2호 ~ 71권 2호

KCI등재 SCI SCOUPUS

Annals of Dermatology
31권 6호 ~ 31권 6호

프로그램북(구 초록집)
71권 2호 ~ 71권 2호

KCI등재 SCI SCOUPUS

Annals of Dermatology
31권 6호 ~ 31권 6호

KCI등재

대한화장품학회지(J. Soc. Cosmet. Scientists Korea)
45권 3호 ~ 45권 3호

KCI등재 SCOUPUS

대한피부과학회지
57권 8호 ~ 57권 8호

KCI등재 SCI SCOUPUS

Annals of Dermatology
31권 5호 ~ 31권 5호

한국피부장벽학회지
21권 1호 ~ 21권 1호
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