Raine 증후군 1례

박혜진,이정진,서정식,김효진,최제용,이준하,노은석,정혜리,김우택,Park, Hye Jin,Lee, Jeong Jin,Seo, Jeong Sik,Kim, Hyo Jin,Choi, Je Yong,Lee, Jun Hwa,Nho, Un Seok,Chung, Hai Lee,Kim, Woo Taek 대한소아청소년과학회 2003 Clinical and Experimental Pediatrics (CEP) Vol.46 No.1

Raine 증후군은 안구돌출, 함몰된 코와 후비공 폐쇄 및 구개열과 하악골 발육부전 등의 특징적인 안면기형과 좁은 흉곽구조와 폐 발육 부전으로 인한 호흡부전, 전신 골격의 골경화, 뇌실질의 석회화 등을 특징으로 하는 매우 희귀하고 치명적인 질환이다. 아직까지 유전적인 결함부위는 알려져 있지 않은 상태이며 근친간인 부모 사이에서 발병이 많으며 남녀비의 차이가 별로 없으며 같은 형제 중에서도 이환된다는 사실로 보아 상염색체 열성으로 유전되는 질환이라는 것을 알 수 있고, 뇌 조직 검사상 저산소성 병변이나 괴사, 출혈, 감염이나 염증 등에 의한 2차적인 석회화가 아닌 칼슘 대사 이상에 의한 전신 골격의 골경화 와 두개 내의 석회화가 초래되는 질환으로 추정되고 있다. 본원에서는 상기한 특징적인 기형과 임상경과를 나타내는 매우 드문 증례를 경험하였기에 문헌 고찰과 함께 보고하는 바이다. Raine syndrome was described as an unknown syndrome in 1989. It is characterized by severe craniofacial anomalies with microcephaly, hypoplastic nose, depressed nasal bridge, exophthamos/protosis, gum hypertrophy, cleft palate, low-set ears, small mandible, narrow chest, wide cranial sutures and choanal atresia or stenosis, by generalized osteosclerosis with subperiosteal thickening of ribs, clavicles and diaphysis of long bones, and by intracranial calcifications in the particularly periventricular area. It undergoes an autosomal recessive inheritance. Twelve cases of Raine syndrome have been reported in the literature. However, a case of Raine syndrome in Korea has not been reported yet. Therefore, we describe a female newborn with Raine syndrome with a brief review of the literatures.

눈꺼풀선에 발생한 눈꺼풀황색종

박혜진 ( Hai-jin Park ),홍재원 ( Jae Won Hong ) 대한피부과학회 2020 大韓皮膚科學會誌 Vol.58 No.1

Xanthelasma palpebrarum (XP) is the most common type of xanthoma. It is a benign condition characterized by bright yellowish plaque-like lesions that appear near the inner epicanthus showing symmetrical distribution. It may be accompanied with some familial lipoprotein disorders and systemic hyperlipidemia. A 28-year-old man visited our department with complaints of periorbital hyperpigmentation and linear yellow plaques along the bilateral upper and lower eyelids for 5 years. His father has hyperlipidemia. Laboratory investigations revealed an increase in low density lipoprotein-cholesterol and triglyceride levels. Histopathologic examination showed diffused infiltration of foamy cells and histiocytes in the upper dermis. The patient was diagnosed with XP based on the clinical and histopathological findings. XP usually present as yellow plaques on the upper eyelids. Here, we report a rare case of XP confined to the eyelines. (Korean J Dermatol 2020;58(1):51∼54)

Respiratory Syncytial Virus에 의한 세기관지염에서 연령에 따른 면역 반응의 변화

박혜진 ( Hye Jin Park ),김소연 ( So Yeon Kim ),이계향 ( Kye Hyang Lee ),이경훈 ( Gyeong Hoon Lee ),최은진 ( Eunn Jin Choi ),김진경 ( Jin Kyung Kim ),김우택 ( Woo Taek Kim ),정혜리 ( Hai Lee Chung ) 대한소아알레르기 및 호흡기학회 2007 소아알레르기 및 호흡기학회지 Vol.17 No.2

지루각화증과 유사하게 보인 다양한 땀샘종양과 동반된 거대 단순 땀극세포종

박혜진 ( Hai-jin Park ) 대한피부과학회 2020 大韓皮膚科學會誌 Vol.58 No.2

Hidroacanthoma simplex (HAS) is a rare benign intraepidermal neoplasm arising from the eccrine duct. Histologically, HAS exhibits the “Borst-Jadassohn phenomenon” and consists of intraepidermal cell nests, which resemble the features of clonal seborrheic keratosis. An 86-year-old woman presented a more than 10-year history of a 7.5 cm×5.6-cm brown verrucous plaque on her right pelvis. Histopathological examination showed intraepidermal clonal cell expansion of polygonal basaloid cells. The lesions were removed by CO₂ laser, but polypoid papules recurred after 3 months. Histologic examination showed proliferation of polygonal basaloid cells with atypia and frequent mitosis. In addition, findings suggestive of syringofibroadenoma were observed. The tumor cells were positive for epithelial membrane antigen (EMA) and periodic acid-Schiff (PAS) staining. Based on these findings, we diagnosed the patient with HAS combined with variable eccrine tumors. Herein, we report a case of giant HAS combined with variable eccrine tumors showing a natural progression of eccrine tumors from HAS to eccrine porocarcinoma in situ. (Korean J Dermatol 2020;58(2):126∼130)

대음순에 발생한 모낭피지선 낭성 과오종 1예

박혜진 ( Hai Jin Park ),주미 ( Me Joo ),이유신 ( Yoo Shin Lee ) 대한피부과학회 2007 대한피부과학회지 Vol.45 No.2

Focus 1-5 (FS 1-5) : New oral agents: PDE inhibitors and tyrosine kinase inhibitors (TKI)

박혜진 ( Hai Jin Park ) 대한피부과학회 2015 대한피부과학회 학술발표대회집 Vol.67 No.1

A number of novel systemic agents have been developed over the past decade for the treatment of moderate-to-severe psoriasis, including T-cell inhibitors, tumor necrosis factor (TNF)-α inhibitors and interleukin (IL)-12/23 inhibitors. However, these therapies may be limited by some drawbacks such as high cost and administration route; biologics must be delivered either intravenously or subcutaneously. Thus, there is a significant need for more cost-effective drugs that can be orally administered that influence proinflammatory cytokines. The phosphodiesterase 4 inhibitor apremilast is a small molecular inhibitor that acts by increasing cyclic adenosine monophosphate levels, ultimately decreasing production of proinflammatory mediators, such as TNF-α, IL-23, and interferon-γ, and increasing production of anti-inflammatory mediators, such as IL-10. Additionally, apremilast reduced both infiltration of myeloid dendritic cells into the dermis and epidermis and inducible macrophage-type nitric oxide synthase mRNA expression. In a 16-week phase 2b trial, PASI-75 was achieved in five patients (6%) assigned placebo, ten (11%) assigned apremilast 10 mg bid, 25 (29%) assigned 20 mg bid, and 36 (41%) assigned 30 mg bid. Most adverse events (96%) were mild or moderate; at least 5% of patients had nausea, upper respiratory tract infection, diarrhea, nasopharyngitis, headache, arthralgia (placebo), gastroenteritis, or dyspepsia. Also, tofacitinib, an oral Janus kinase (JAK) inhibitor, has proven to be efficacious in moderate to severe psoriasis. The Janus family of kinases is a subset of the protein tyrosine kinases. The JAK family consists of four members: JAK1, JAK2, JAK3, and TYK2. The various combinations of JAK pairs recruit different STAT proteins, of which there are up to six types, and this allows for the wide range of down-stream activities seen in the JAK-STAT pathways. Tofacitinib preferentially inhibits signaling by heterodimeric receptors associated with JAK3 and/or JAK1 with functional selectivity over receptors that signal via JAK2. Inhibition of JAK1 and JAK3 blocks signaling through the common γchain-containing receptor for cytokines including IL-2, -4, -7, -9, -15 and -21 which are crucial to lymphocyte function. Also, in murine models, tofacitinib suppressed the expression of IL-23 receptors, IL-17A, IL-17F, and IL-22 when T cells were stimulated with proinflammatory cytokines such as IL-6 and IL-23. Inhibition of IL-23 receptor expression results in suppression of Th17 cell differentiation,which is a key driving factor in the pathogenesis of psoriasis. Tofacitinib’s inhibition of IL-15 may play an important role in treating psoriasis as IL-15 is highly expressed with enhanced binding activity in psoriatic lesions and associated with increased resistance to keratinocyte apoptosis. Additionally, the suppression of STAT3 phosphorylation reduces IFN-γ expression, which is one of the most potent activation of keratinocyte proinflammatory function. In a 12-week phase 2b trials, PASI 75 response rate were significantly higher for all tofacitinib groups: 25% (2mg bid), 40.8% (5mg bid), and 66.7% (15mg bid) in 197 moderate-to-severe psoriasis patients. The most frequently adverse events were upper respiratory infection, nasopharyngitis and headache.

Becker 모반과 흑색조를 동반한 진행성 사상 대상포진상 과색소 침착증

박혜진 ( Hai Jin Park ),이유신 ( Yoo Shin Lee ) 대한피부과학회 2006 대한피부과학회지 Vol.44 No.8

Progressive cribriform and zosteriform hyperpigmentation (PCZH) was first described in 1978 by Rower and his colleagues as having the following clinical characteristics: a single area of uniformly-tan, cribriform, macular pigmentation in a zosteriform distribution, an histologically mild increase of melanin pigment in the basal cell layer and complete absence of nevus cells, no preceding history of skin rash, injury or inflammation, onset after birth with gradual extension-age at onset was in the second decade of life, lack of other associated cutaneous or internal abnormalities. We hereby report an atypical case of PCZH in a 16-year-old boy, who presented with multiple, cribriform and zosteriform hyperpigmented lines on his right arm and leg. This is the first ever reported case which has an association with Becker`s nevus and melanonychia. (Korean J Dermatol 2006;44(8):962~965)

Quiz 4

박혜진 ( Hai-jin Park ) 대한피부과학회 2017 대한피부과학회 학술발표대회집 Vol.69 No.1

Case 1. A 43-year-old male presented with a 3-month history of asymptomatic swelling of the lower lip. On physical examination, his lower lip showed swelling with erythema and scales. The biopsy specimen from the lower lip revealed dilated vessels and noncaseating granulomas with lymphocytes and plasma cells in the dermis. Case 2. A 55-year old woman presented with severely pruritic scaly eruption on buttocks three days after travelling to Philippines. She had a history of swimming in the sea with swimming suit in Philippines. On physical examination, scaly erythematous papules and macules with multiple serpiginous raised lesions observed on both buttocks.

최근 8년간 매독 환자에 대한 임상 및 통계학적 고찰(2000∼2007)

박혜진 ( Hai Jin Park ) 대한피부과학회 2008 대한피부과학회지 Vol.46 No.10

Background: Syphilis is infectious and chronic disease transmitted sexually and caused by Treponema pallidum subspecies pallidum. Thanks to the wide-ranging variance in clinical presentations, the disease has earned the name, the Great Mimicker. The prevalence rate of syphilis in Korea dropped sharply since the 1970s and has remained low until recently when the rate started to show signs of a modest but clear increase. Objective: The objective of this study is to evaluate the incidence of syphilis and describe its clinical characteristics of each stage as we have observed for the past 8 years at our hospital. Methods: We conducted a retrospective analysis on the 279 syphilis patients who visited our hospital from 2000 to 2007. For the diagnosis of the disease, we used nontreponemal (VDRL) and treponemal test (TPHA, FTA-ABS) in serum and evaluated the clinical features of the subjects. Results: The annual incidence and prevalence rate of early syphilis showed a statistically significant upward trend. By gender, the annual incidence rate among males also drew an upward curve. Among 279 patients, 28 cases of early syphilis were found in males, whereas only 16 cases were found in females. Early syphilis is found most frequently in the twenties. Secondary syphilis showed various skin lesions including alopecia syphlitica, macular syphilid, papulosquamous syphlid and annular patch. Nine cases among 19 syphilis patients showed coppery red macules on palms and soles. One case of early latent syphilis was found in a HIV-positive patient. The serum VDRL titers according to stages did not show a statistically significant difference. Conclusion: We have observed statistically significant (p<0.05) increase in the incidence and prevalence rates of early syphilis in recent years. Thus, dermatologists should be rightly aware of and familiarize themselves with the diverse clinical features of syphilis and be attentive and alert to effectively diagnose the disease in its early stages. (Korean J Dermatol 2008;46(10):1344∼1352)

의료 인공지능의 활용을 둘러싼 법적 과제

박혜진(Hai Jin Park) 한국비교사법학회 2022 비교사법 Vol.29 No.4

인공지능 기술의 발달은 의료를 혁신하고 의료서비스의 질을 향상시킬 것으로 기대되고 있다. 그러나 인공지능 의료기기가 오작동하는 경우에는 의료진의 최선의 의사결정을 방해하거나 환자에게 나쁜 결과를 가져올 위험성이 있다. 이처럼 국민의 생명·건강과 직결되는 인공지능 의료기기를 어떻게 규제할 것인지, 또 인공지능 의료기기로 인하여 발생한 손해에 대한 책임을 누구에게 지울 것인지는 그 자체로도 중요한 문제일 뿐만 아니라 앞으로의 기술발전의 방향과 속도와도 밀접한 관련이 있다. 이 글에서는 인공지능 의료기기의 규제와 관련하여 우리나라와 미국 등의 규제당국이 대응해 온 문제들을 크게 세 단계로 나누어 조망하고, 우리나라에서 대응해야 할 남아있는 문제들을 살펴본다. 또한, 인공지능 의료기기의 오류로 인하여 환자에게 나쁜 결과가 발생한 경우의 책임 문제에 관하여, 의사의 책임뿐만 아니라 의료기관의 책임, 제조업체의 책임, 그리고 보험 및 계약을 통한 위험 이전 가능성, 마지막으로 공동사업책임(common enterprise liability) 또는 기금 등을 통한 특별보상제도의 도입 필요성에 대하여 전반적으로 검토하면서, 앞으로 더욱 깊이 있는 연구나 논의가 필요한 부분을 가늠해 보고자 한다. Technological advances in artificial intelligence (AI) are transforming health care by assisting healthcare providers and improving patient care. However, AI medical devices may err and adversely affect the physician’s decision-making, resulting in patient harm. Therefore, regulating AI medical devices and allocating liability arising from algorithm inaccuracy is critical for patient safety and innovation in clinical care. This paper provides an overview of the three evolutional stages in regulating AI medical devices and highlights the remaining issues for the regulatory agencies to be addressed. Moreover, this study considers multiple stakeholders beyond clinicians and alternative policy options in its liability analysis and identifies questions that call for deeper investigation and discussion in the future.