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초록보기

Lowe syndrome is a rare genetic disease that appears to cause

various clinical symptoms involving the eye, nervous

system, and kidney. While a mutation of the OCRL1 gene is

known to be responsible for this syndrome, the exact

pathophysiology remains unclear. Various multi-organ

symptoms are characteristic of Lowe syndrome, but skin

lesions have rarely been described. Recently, mechanisms

for the association of Lowe syndrome and skin lesions have

been proposed. We report this case of Lowe syndrome

involving multiple epidermal cysts on the scalp in a

6-year-old male child. (Ann Dermatol 22(4) 444∼446,

2010)

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권호기사 목록 테이블로 기사명, 저자명, 페이지, 원문, 기사목차 순으로 되어있습니다.
기사명 저자명 페이지 원문 목차
What should be considered in treatment of melasma Hee Young Kang ;Jean-Paul Ortonne pp.373-378

Cholesterol, a major component of caveolae, down-regulates matrix metalloproteinase-1 expression through ERK/JNK pathway in cultured human dermal fibroblasts Sangmin Kim ;Jeonghun Han ;Dong Hun Lee ;Kwang Hyun Cho ;Kyu Han Kim ;Jin Ho Chung pp.379-388

Impact of psoriasis on quality of life :relationship between clinical response to therapy and change in health-related quality of life Young Wook Lee ;Eun Joo Park ;In Ho Kwon ;Kwang Ho Kim ;Kwang Joong Kim pp.389-396

Role of CD4^+^CD25^high+^FOXP3^+^ regulatory T cells in psoriasis Woo-Jin Yun ;Deok-Woo Lee ;Sung-Eun Chang ;Ghil-Suk Yoon ;Joo-Ryung Huh ;Chong-Hyun Won ;Mi-Woo Lee pp.397-403

Diagnostic usefulness of the serum-specific IgE, the skin prick test and the atopy patch test compared with that of the oral food challenge test Bo Young Chung ;Hye One Kim ;Chun Wook Park ;Cheol Heon Lee pp.404-411

Chemokine receptor CCR3 expression in malignant cutaneous tumors Yoon-Jin Lee ;Dae-Hyun Kim ;Sang-Han Lee ;Hae-Seon Nam ;Mi Ryung Roh ;Moon-Kyun Cho pp.412-417

(A)Case of Gardner's syndrome associated with desmoid tumor Jimin Chung ;Sun Namkoong ;Kyoung Eun Jung ;Jong Wook Park ;Byung Cheol Park ;Yong Woo Cinn ;Myung H pp.418-421

(A)Case of pyoderma gangrenosum with ulcerative colitis treated with mesalazine Jae In Lee ;Hyun Jeong Park ;Jun Young Lee ;Baik Kee Cho pp.422-425

Kasabach-Merritt syndrome arising from tufted angioma successfully treated with systemic corticosteroid Taegyun Kim ;Mi Ryung Roh ;Soohyun Cho ;Kee Yang Chung pp.426-430

(A)Case of trichogerminoma Minji Kim ;Mira Choi ;Jong Soo Hong ;Jong Hee Lee ;Soyun Cho pp.431-434

Subcutaneous sarcoidosis with plantar involvement Gokhan Celik ;Aydin Ciledag ;Pinar Akin ;Yasin Simsek ;Akin Kaya ;Numan Numanoglu ;Yavuz Yener Sagli pp.435-437

Erdheim-chester disease Myoung-Shin Kim ;Chae-Hwa Kim ;Seok-Joo Choi ;Chong-Hyun Won ;Sung-Eun Chang ;Mi-Woo Lee ;Jee-Ho Cho pp.439-443

Multiple epidermal cysts in lowe syndrome Jong Hoon Won ;Min Jung Lee ;Joon Soo Park ;Hyun Chung ;Jin Kyung Kim ;Jeong Su Shim pp.444-446

Lymphomatoid papulosis followed by anaplastic large cell lymphoma in a pediatric patient Jung Ah Min ;Shin Taek Oh ;Jung Eun Kim ;Baik Kee Cho ;Nak Gyun Chung ;Hyun Jeong Park pp.447-451

Multiple endocrine neoplasia type 2B :early diagnosis by multiple mucosal neuroma and its DNA analysis Min Jung Lee ;Ki Hun Chung ;Joon Soo Park ;Hyun Chung ;Hyo Chan Jang ;Jong Won Kim pp.452-455

Atrophying pityriasis versicolor :is this a new variant of pityriasis versicolor? Yun-Seok Yang ;Min-Kyung Shin ;Choong-Rim Haw pp.456-459

(An)Unusual case of congenital dermal melanocytosis Sanghoon Lee ;Dae-Hyun Kim ;Gunhong Lee ;Kyu-Uang Whang ;Jong Suk Lee ;Young-Lip Park pp.460-462

Unusual presentation of obesity-associated dermatoses :acanthosis nigricans involving both auricles Young Bok Lee ;Jeong Deuk Lee ;Sang Hyun Cho pp.463-464

Idiopathic multiple eruptive milia occurred in unusual sites Eujin Cho ;Sang Hyun Cho ;Jeong Deuk Lee pp.465-467

Penicillamine-induced elastosis perforans serpiginosa and cutis laxa in a patient with Wilson's disease Se Young Na ;Mira Choi ;Min Ji Kim ;Jong Hee Lee ;Soyun Cho pp.468-471

(A)Case of primary cutaneous mucinous carcinoma with neuroendocrine differentiation June-Bum Kim ;Ji-Hyun Choi ;Ji-Hye Kim ;Hyang-Joon Park ;Jae-Seung Lee ;Ok-Ja Joh ;Kye Yong Song pp.472-477

(A)Case of sweet's panniculitis associated with spinal metastasis from prostate cancer Jihyun Kim ;Yoon Jin Choi ;Sang-Ho Oh ;Kwang Hoon Lee pp.478-481

Vitiligo coexistent with nevus depigmentosus :this was treated with narrow-band UVB and these lesions were followed using the mexameter^® ^, a pigment-measuring device Seon-Wook Hwang ;Ju-Hyun Kang ;So-Young Jung ;Joon-Hee Choi ;Jong-Keun Seo ;Deborah Lee ;Ho-Suk Sung pp.482-485

Activation of toll-like receptors 1, 2, 4, 5, and 7 on human melanocytes modulate pigmentation Sun Hee Jin ;Hee Young Kang pp.486-489

참고문헌 (13건) : 자료제공( 네이버학술정보 )

참고문헌 목록에 대한 테이블로 번호, 참고문헌, 국회도서관 소장유무로 구성되어 있습니다.
번호 참고문헌 국회도서관 소장유무
1 Lowe CU, Terrey M, MacLachan EA. (1952),"Organic aciduria, decreased renal ammonia production, hydrophthalmos and mental retardation; a clinical entity.",Am J Dis Child 83:164-184. 미소장
2 Lowe syndrome. 네이버 미소장
3 Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus. 네이버 미소장
4 Eruptive Vellus Hair Cysts in a Patient with Lowe Syndrome 네이버 미소장
5 Different seizure types and skin lesions in oculocerebrorenal syndrome of Lowe. 네이버 미소장
6 Lowe oculocerebrorenal syndrome in a female with a balanced X;20 translocation: mapping of the X chromosome breakpoint. 네이버 미소장
7 The effect of missense mutations in the RhoGAP-homology domain on ocrl1 function 네이버 미소장
8 Suk KW, Lee SJ, Kim WS. (2006),"Two cases of oculocerebrorenal syndrome in two brothers diagnosed after congenital cataract surgery.",J Korean Ophthalmol Soc 47:1502- 1511. 미소장
9 Glaucoma With the Oculocerebrorenal Syndrome of Lowe 네이버 미소장
10 Two Cases of Lowe Syndrome 네이버 미소장
11 Renal manifestations of Dent disease and Lowe syndrome. 네이버 미소장
12 Two Cases of Oculocerebrorenal Syndrome of Lowe 소장
13 Lowe syndrome: case report. 네이버 미소장

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