특집: 전신 홍반 루푸스의 최신지견 : 전신 홍반 루푸스의 임상 소견과 진단

안중경 ( Joong Kyong Ahn ) 대한내과학회 2010 대한내과학회지 Vol.78 No.4

Systemic lupus erythematosus (SLE) is a multi-system, autoimmune disorder of unknown cause, characterized by the production of autoantibodies and wide ranging spectrum of clinical manifestations. SLE can involve any organ system of the body with constitutional symptoms, including musculoskeletal, skin, renal, neuropsychiatric, cardiovascular, respiratory and gastrointestinal system. American College of Rheumatology classifications criteria for SLE can be helpful when establishing the diagnosis of SLE. However, these criteria would not do for physicians to give a diagnosis of SLE because these were designed for classification for research purpose and not for diagnosis. The diagnosis of SLE remains largely clinical. Thus, increasing awareness of the clinical manifestations could lead to earlier diagnosis. The clinical manifestations and diagnosis of SLE are covered in this review. (Korean J Med 78:409-415, 2010)

Prader-Willi syndrome: a single center’s experience in Korea

김예지,전종근 대한소아청소년과학회 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.7

Purpose: Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack ofpaternally expressed genes in the chromosome 15q11–q13 region. This study was performed todelineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone(GH) treatment according to gender and age at the start of treatment. Methods: The clinical characteristics and the results of the GH treatment were reviewed retrospectivelyfor 30 PWS patients diagnosed by molecular genetic testing and clinical manifestations. Results: The mean age at diagnosis with PWS was 13.7 months (2–47 months of age). All patientsshowed the characteristics of facial dysmorphism, including brown hair and almond-shaped eyes. Mostpatients showed developmental delays/mental retardation (93.3%), cryptorchidism (75%), feedingproblems in infancy (73.3%), and neonatal or infantile hypotonia (66.7%). Among 30 patients, 14 PWSinfants and toddlers had been treated with GH for more than two years. Two years of GH treatmentresulted in an improvement in head circumference-standard deviation score (HC-SDS), body weight-SDS, insulin-like growth factor-1 (IGF-1) SDS, IGF binding protein-3 (IGFBP-3) SDS, lean body mass,and bone mineral content, especially in IGFBP-3 SDS and motor development in PWS patients youngerthan two years of age. There was significant increase in IGF-1 SDS and IGFBP-3 SDS among male PWSpatients after GH treatment. Conclusion: Our study showed increases in IGFBP-3 SDS and an improvement in motor developmentamong individuals under two years of age after GH treatment, and significant difference in IGF-1 SDSand IGFBP-3 SDS by gender.

Prader-Willi syndrome: a single center's experience in Korea

Kim, Yea Ji,Cheon, Chong Kun The Korean Pediatric Society 2014 Clinical and Experimental Pediatrics (CEP) Vol.57 No.7

Purpose: Prader-Willi syndrome (PWS) is a complex genetic disorder that results from the lack of paternally expressed genes in the chromosome 15q11-q13 region. This study was performed to delineate the clinical features of PWS infants and toddlers and the effects of two-year growth hormone (GH) treatment according to gender and age at the start of treatment. Methods: The clinical characteristics and the results of the GH treatment were reviewed retrospectively for 30 PWS patients diagnosed by molecular genetic testing and clinical manifestations. Results: The mean age at diagnosis with PWS was 13.7 months (2-47 months of age). All patients showed the characteristics of facial dysmorphism, including brown hair and almond-shaped eyes. Most patients showed developmental delays/mental retardation (93.3%), cryptorchidism (75%), feeding problems in infancy (73.3%), and neonatal or infantile hypotonia (66.7%). Among 30 patients, 14 PWS infants and toddlers had been treated with GH for more than two years. Two years of GH treatment resulted in an improvement in head circumference-standard deviation score (HC-SDS), body weight-SDS, insulin-like growth factor-1 (IGF-1) SDS, IGF binding protein-3 (IGFBP-3) SDS, lean body mass, and bone mineral content, especially in IGFBP-3 SDS and motor development in PWS patients younger than two years of age. There was significant increase in IGF-1 SDS and IGFBP-3 SDS among male PWS patients after GH treatment. Conclusion: Our study showed increases in IGFBP-3 SDS and an improvement in motor development among individuals under two years of age after GH treatment, and significant difference in IGF-1 SDS and IGFBP-3 SDS by gender.

Case Reports : Eccrine Porocarcinoma Presenting with Unusual Clinical Manifestations: A Case Report and Review of the Literature

( Chang Min Choi ),( Hee Ryung Cho ),( Bark Lynn Lew ),( Woo Young Sim ) 대한피부과학회 2011 Annals of Dermatology Vol.23 No.1S

Eccrine porocarcinoma is a rare neoplasm that originates from the intraepidermal ductal portion of the eccrine sweat gland, and it usually occurs on the pre-existing lesion of benign eccine poroma. Its occurrence is more common in females and elderly persons. We present a case of a 44-year-old man who suffered from eccrine porocarcinoma, which developed on the right scrotum and pelvic area with metastases to the lung, adrenal gland, esophagus, ureter, and distant lymph nodes. Here we report on a unique case of eccrine porocarcinoma that developed primarily on the scrotum, which is an uncommon site, and showed rapid metastasis to the internal organs. (Ann Dermatol 23(S1) S79 ~S83, 2011)

소아 $Henoch-Sch\"{o}nlein$ 자반증의 역학 및 임상양상

김세훈,이종국,Kim Se-Hun,Lee Chong-Guk 대한소아신장학회 2003 Childhood kidney diseases Vol.7 No.2

Purpose : The cause and pathogenesis of $Henoch-Sch\"{o}nlein$ purpura has been studied for many years but the results are disappointing. Recently the hypothesis that abnormalities involving the glycosylation of the hinge region of immunoglobulin Al(IgAl) may have an important role in the pathogenesis of $Henoch-Sch\"{o}nlein$ purpura is being approved. $Henoch-Sch\"{o}nlein$ purpura is the most common vasculitis Ihat affects children and the prognosis is good. But if kidney invovement occurs, the course may be chronic and troublesome. So we evaluated children with $Henoch-Sch\"{o}nlein$ purpura especially from the point of epidemiology and clinical manifestations. Methods : Investigation of 124 children who were diagnosed with $Henoch-Sch\"{o}nlein$ purpura at Inje University Ilsan Paik Hospital from December 1999 to July 2003 was performed retrospectively through chart review. Efforts were made to get informations about the profile, epidemiology, clinical manifestations, progress of the disease and recurrence rate of patients. Results : The patients were 69 boys and 55 girls, with a mean age of $6.1{\pm}2.7$ years at the time of data collection. The male to female ratio was 1.25 : 1. The occurrence rate was much higher in autumn(from September to November, 31.5%) and winter(from December to February, 28.2%) than in spring and summer, with a peak in November. Joint involvement was shown in 66.9% of patients mostly on the foot/ankle(75.9%), knee(39.8%). Seventy(56.5%) out of 124 patients had abdominal pain and 10 patients(8.1%) showed bloody stools. Renal involvement was observed in 24 patients(19.4%) after 21.1 days on the average. IgA was elevated in 10 of 21 patients(47.6%). $C_3$ and $C_4$ levels were normal in 40 of 49 patients (81.7%) and 47 of 48 patients(97.9%), respectively Antistreptolysin-O(ASO) titer was elevated over 250 Todd units in 29 of 62 Patients(46.8%). Mycoplasma antibody titer was elevated in 21 of 49 patients(42.9%) equal or greater than 1:80. Radiologic studies were peformed in 23 patients. Seven patients(30.4%) showed bowel wall thickening and one of them received intestinal resection and anastomosis operation due to terminal ileum necrosis. Eighty four patients took steroid 1.4 mg/kg/day in average. Recurrence rate was 2.5 in 37 patients(29.8%). Conclusion : $Henoch-Sch\"{o}nlein$ purpura in childhood appears most in about 6 years of age. The occurrence rate is much higher in autumn and winter relatively. Diagnosis can be made through the perspective history taking and the inspection of clinical manifestations, but the laboratory findings are not of great help. A small portion of the patients might show abdominal pain or arthritis before purpura develops, therfore various diagnosis can be made. Radiologic evaluation should be performed to avoid surgical complications in cases accompanying abdominal pain, and long term follow up should be needed especially in patients suffering from kidney involvement. In about 30% of the patients $Henoch-Sch\"{o}nlein$ purpura would recur. Steroid can be used safely without side effects. 목적 : 최근에 $Henoch-Sch\"{o}nlein$ 자반증의 원인 및 발병기전에 대한 연구가 진행되고 있으나 현재까지 뚜렷하게 밝혀진 것은 없으며 면역글로불린 Al이 중요한 역할을 하는 것으로 알려져 있다. 질환자체는 매우 흔하며 양호한 예후를 보이지만 신장에 침범된 경우 만성적인 경과를 취하는 경우도 있다. 따라서 저자들은 이러한 $Henoch-Sch\"{o}nlein$ 자반증의 연구에 도움이 되고자 역학, 임상양상 및 경과에 대해 조사하여보았다. 방법 : 1999년 12월부터 2003년 7월까지 인제대학교 일산백병원에서 $Henoch-Sch\"{o}nlein$ 자반증으로 진단된 124명의 환아들을 대상으로 역학, 임상양상 및 경과에 대해 차트분석을 통한 후향적 조사를 시행하였다. 결과 : 남아는 69명, 여아는 55명으로 남녀 비는 1.25:1이었다. 평균연령은 $6.1{\pm}2.7$세였으며 가을(9-11월, 31.5%)과 겨울(12-2월, 28.2%)에 상대적으로 호발 하였으며 11월에 가장 많이 발생하였다. 관절염은 66.9%에서 발생하였고 발/발목(75.9%), 무릎(39.8%) 순이었으며 환아의 56.5%에서 복통이 있었고 10명(47.6%)에서 증가하였으며 $C_3,\;C_4$는 각각 81.7%; 97.9%에서 정상이었다. ASO titer는 46.8%에서 250 Todd units 이상으로 증가되어 있었고 2명에서 S. pyogenes(group A)가 자랐다. 마이코플라즈마 항체가가 1:80 이상인 경우가 42.9%이었다. 방사선학적 검사는 23명에서 시행되었고 이중 7명(30.4%)이 장벽비대 소견을 보였으며 1명은 말단회장의 괴사로 인해 장절제 및 문합술을 받았다. 총 84명이 스테로이드 투여를 받았으며 용량은 평균 1.4mg/kg/day이었다. 재발은 37명(29.8%)에서 평균2.5회 발생하였다. 결론 :소아 $Henoch-Sch\"{o}nlein$ 자반증은 6세경에 가장 호발하며 가을과 겨울에 더 많이 발생한다. 검사소견은 진단에 많은 도움이 되지 않으며 자세한 병력청취 및 임상증상의 관찰이 진단에 중요하다. 일부 환아들은 복통과 관절염증상이 자반에 선행하여 나타나는 경우가 있어 다양한 진단을 내릴 수 있으나, 대부분 3-4일 이내에 자반이 발생하므로 성급한 진단은 피해야 한다. 복통을 동반하는 경우 드물게 수술적 합병증이 발생하는 경우가 있으므로 방사선학적 검사를 요하며 혈뇨를 보이는 경우에는 만성적인 경과를 취할 수 있으므로 지속적인 관찰이 요구된다. 환아의 30%는 재발하며, 스테로이드는 부작용 없이 안전하게 사용될 수 있다.

POEMS Syndrome: Bone Marrow, Laboratory, and Clinical Findings in 24 Korean Patients

심효은,설창안,박찬정,조영욱,서을주,이정희,윤덕현,서철원,박상혁,장성수 대한진단검사의학회 2019 Annals of Laboratory Medicine Vol.39 No.6

POEMS syndrome is a rare paraneoplastic syndrome, which includes polyneuropathy, organomegaly, endocrinopathy, M-protein, and skin changes due to plasma cell (PC) neoplasm. Diagnosis of this disease is challenging because of its rarity and complex clinical manifestations. We attempted to identify the key clinical features and characteristic bone marrow (BM) findings of POEMS syndrome, by reviewing the medical records and BM analyses of 24 Korean patients. Frequent clinical manifestations included polyneuropathy (100%), monoclonal gammopathy (100%), organomegaly (92%), extravascular volume overload (79%), and endocrinopathy (63%). The BM analyses revealed mild PC hyperplasia (median PCs: 5.5%) and frequent megakaryocytic hyperplasia (88%), megakaryocyte clusters (88%), and hyperlobation (100%). Flow cytometry of BM aspirates using CD138/CD38/CD45/CD19/CD56 showed normal (67%, 4/6) or neoplastic PC immunophenotypes (33%, 2/6). A diagnosis of POEMS syndrome must be considered when a patient suspected of having PC dyscrasia shows the above clinical presentation and BM findings.

슬관절(膝關節)의 퇴행성 관절염에 대한 고찰

장준혁,김경호,Jang Jun-Huk,Kim Kyeng-Ho 대한침구의학회 1998 대한침구의학회지 Vol.15 No.2

Osteoarthritis(degenerative joint disease), the most common arthropathy affecting the aged people, is characterized by degeneration of articular cartilage with proliferation and remodeling of subchondral bone. Osteoarthritis of the knee, which probably has greater social cost and more associated disability than osteoarthritis of any other joint, prevalence is known to increase with age, and females have higher rates than males; radiographic abnormalities are present in more than 30% of persons more than 65 years old, with approximately 40% of these persons symptomatic. Though the etiology of osteoarthritis is not entirely understood, much information is available regarding risk factors for the development of knee osteoarthritis that permit some reasonable guideline for preventive strategies. Traumatic damage or occupational or recreational overuse of knee joint may result in osteoarthritis, and obesity also is related to osteoarthritis of the knee. A variety of other possible risk factors for the development of knee osteoarthritis have been proposed, including increased bone mass, smoking, diseases such as diabetes or elevated serum uric acid, and some metabolic factors, but the contribustions of these and other factors such as smoking or race and diseases such as diabetes are as yet undetermined. The usual clinical manifestations include pain, stiffnesss, crepitus and loss of function. In oriental medicine, osteoarthritis of the knee is very similar to diseases such as Bijung(痺症), Haksulpung(鶴膝風), Youkjeolpung(歷節風) in symptoms. The diseases such as Bijung(痺症), Haksuipung(鶴膝風), Youkjeolpung(歷節風) is related to the of function liver(肝) and kidney(腎) and risk factors are regarded as Pung(風), Han(寒), sub(濕). The diagnosis of osteoarthritis of the knee has often been based on radiographic appearance and clinical manifestations. The acupuncture therapy of osteoarthritis of the knee has often been based on Stomach meridian(ST), Spleen meridian(SP), Kidney meridian(KI), Liver meridian(LR).

비전형적 임상 소견을 보인 림프종양 구진증

박영민(Young Min Park),최성우(Sung Woo Choi),변대규(Dae Gyoo Byun),조백기(Baik Kee Cho),허원(Won Houh),강창석(Chang Suk Kang) 대한피부과학회 1994 대한피부과학회지 Vol.32 No.2

We report herein a case of lymphomatoid papulosis showing atypical clinical manifestations. A 54- year-old man had had recurrent erythematous necrotic papules and nodues, numbering more than 200 lesions at the most aggravated time, on the trunk, extremities, buttok, and face for the last twenty years. Recently, he complained of tender swelling on the neck, axillae, and inguinal lymph nodes accompanied by mild fever and gerneral weakness. We had performed thorough examinations including biopsy from the skin lesions, lymph node, and bone marrow to detect some evidences of transforming to malignant lymphoma, but found no evidence of malignant lymphoma except aneuploidy on DNA histogram. The patients showed proinpt response to methotrexate 10-30mg par week wit,hout showing distinct side reactions to the accurvulated dose of 780mg for the last 16 months. (Kor J Dermatol 1994; 32(2): 305-311)

Eccrine Porocarcinoma Presenting with Unusual Clinical Manifestations: A Case Report and Review of the Literature

Chang-Min Choi,Hee-Ryung Cho,Bark-Lynn Lew,Woo-Young Sim 대한피부과학회 2011 Annals of Dermatology Vol.23 No.-

Eccrine porocarcinoma is a rare neoplasm that originates from the intraepidermal ductal portion of the eccrine sweat gland, and it usually occurs on the pre-existing lesion of benign eccine poroma. Its occurrence is more common in females and elderly persons. We present a case of a 44-year-old man who suffered from eccrine porocarcinoma,which developed on the right scrotum and pelvic area with metastases to the lung, adrenal gland, esophagus, ureter, and distant lymph nodes. Here we report on a unique case of eccrine porocarcinoma that developed primarily on the scrotum, which is an uncommon site, and showed rapid metastasis to the internal organs. (Ann Dermatol 23(S1) S79∼S83, 2011)

P154 : Analysis of clinical features of seborrheic dermatitis patients

( Seon Yong Park ),( Hyuck Hoon Kwon ),( Seonguk Min ),( Ji Young Yoon ),( Dae Hun Suh ) 대한피부과학회 2014 대한피부과학회 학술발표대회집 Vol.66 No.2

Background: Seborrheic dermatitis is a chronic relapsing inflammatory skin disorder that affects sebum-rich areas. Systematic investigation of clinical manifestation and factors associated with severity of seborrheic dermatitis has rarely been reported in Korea.Objectives: We sought to investigate the clinical manifestation of seborrheic dermatitis and associated factors in Korea. Methods: Patients filled self-questionnaire which included subjective severity of symptoms and aggravating factors. Clinical evaluation of seborrheic dermatitis including objective severity and involved site was undertaken by dermatologists. Patients were categorized into two age groups - younger than 40; younger group and 40 or older; older group - and we compared clinical features of them. Results: Total 215 (122 men, 93 women) patients were included in the study. Mean disease duration was 6.7 years and the most frequently reported aggravating factor was psychological stress. In the younger group, subjective severity of scale and tightness was greater and cheek involvement was more prevalent than in the older group. The severity of seborrheic dermatitis had no significant association with body mass index, average sleeping hours, use of shampoo per week, and family history of seborrheic dermatitis. Conclusion: We investigated associated factors of seborrheic dermatitis and observed different clinical features between the age groups.