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small rounded wartlike protuberance on a plant (同)tubercle
(mineralogy) a small rounded lump of mineral substance (usually harder than the surrounding rock or sediment)
a small node

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(鉱石などの)小塊 / (植物の茎・根,動物の組織にできる)小結節,こぶ

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出典(authority):フリー百科事典『ウィキペディア（Wikipedia）』「2015/09/12 01:14:52」(JST)

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Lisch nodules on surface of iris.

A Lisch nodule is a pigmented hamartomatous nodular aggregate of dendritic melanocytes affecting the iris,^[1]^[2] named after Austrian ophthalmologist Karl Lisch (1907–1999), who first recognized them in 1937.^[3]

The first published use of the term, "Lisch nodule," was in the New England Journal of Medicine "Medical Progress" series article of December 31, 1981 (Riccardi VM: Von Recklinghausen Neurofibromatosis. N Engl J Med 1981;305:1617-27).

These nodules are found in neurofibromatosis type 1, and are present in greater than 94% of patients over the age of six.^[2] They are clear, yellow-brown,^[4] oval to round, dome-shaped papules that project from the surface of the iris. These nodules typically do not affect vision, but are very useful in diagnosis.^[2] They are detected by slit lamp examination.^[4] Immunohistochemistry stains positive against vimentin and S-100, and points to an ectodermal origin.^[3] Their precise origin and structure, however, is still under debate.^[4] They are not found in neurofibromatosis type 2.

References

^ "Free Medicla Textbook". Retrieved 20 October 2011. |chapter= ignored (help)
^ ^a ^b ^c Kumar, Vinay; Fausto, Nelson; Fausto, Nelso; Robbins, Stanley L.; Abbas, Abul K.; Cotran, Ramzi S. (2005), Robbins and Cotran Pathologic Basis of Disease (7th ed.), Philadelphia, Pa.: Elsevier Saunders, p. 169, ISBN 0-7216-0187-1
^ ^a ^b Lukacs, Andreas; Junk, Anna K.; Fritz, Stefani H.; Kampik, Anselm; Georg, Schirren Carl; Plewig, Gerd (1997), "Lisch nodules. Markers of neurofibromatosis 1 and immunohistochemical references for neuroectodermal differentiation", Hautarzt 48 (1): 38–41, doi:10.1007/s001050050544, PMID 9132386
^ ^a ^b ^c Richetta, A.; Giustini, A.; Recupero, S. M.; Pezza, M.; Carlomagno, C.; Amoruso, G.; Calvieri, S. (2004), "Lisch nodules of the iris in neurofibromatosis type 1", Journal of the European Academy of Dermatology and Venerology 18 (3): 342–4, doi:10.1111/j.1468-3083.2004.00915.x, PMID 15096151

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1. 神経線維腫症I型（NF1）：病因、臨床的特徴、および診断 neurofibromatosis type 1 nf1 pathogenesis clinical features and diagnosis
2. 神経線維腫症2型 neurofibromatosis type 2
3. 遺伝的疾患における褐色細胞腫 pheochromocytoma in genetic disorders
4. リンチ症候群（遺伝性非ポリポーシス大腸癌）の臨床的特徴および診断 clinical features and diagnosis of lynch syndrome hereditary nonpolyposis colorectal cancer
5. 色素細胞性母斑（ほくろ）以外の良性色素性皮膚病変 benign pigmented skin lesions other than melanocytic nevi moles

English Journal

Whole-exome sequencing of breast cancer, malignant peripheral nerve sheath tumor and neurofibroma from a patient with neurofibromatosis type 1.

McPherson JR1, Ong CK2, Ng CC3, Rajasegaran V3, Heng HL3, Yu WS3, Tan BK4,5, Madhukumar P4,5, Teo MC5, Ngeow J6, Thike AA7, Rozen SG1, Tan PH7, Lee AS8,9,10, Teh BT3,11,12, Yap YS6,13.
Cancer medicine.Cancer Med.2015 Dec;4(12):1871-8. doi: 10.1002/cam4.551. Epub 2015 Oct 3.
Neurofibromatosis type 1 (NF1) is a genetic disorder characterized by the development of multiple neurofibromas, cafe-au-lait spots, and Lisch nodules. Individuals with NF1 are at increased risk of developing various tumors, such as malignant peripheral nerve sheath tumor (MPNST), pheochromocytoma,
PMID 26432421

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation.

Rojnueangnit K1,2, Xie J1, Gomes A1, Sharp A1, Callens T1, Chen Y1, Liu Y1, Cochran M1, Abbott MA3, Atkin J4, Babovic-Vuksanovic D5, Barnett CP6, Crenshaw M7, Bartholomew DW4, Basel L8, Bellus G9, Ben-Shachar S10, Bialer MG11, Bick D12, Blumberg B13, Cortes F14, David KL15, Destree A16, Duat-Rodriguez A17, Earl D18, Escobar L19, Eswara M20, Ezquieta B21, Frayling IM22, Frydman M23, Gardner K24, Gripp KW25, Hernández-Chico C26, Heyrman K27, Ibrahim J28, Janssens S29, Keena BA30, Llano-Rivas I31, Leppig K32, McDonald M33, Misra VK34, Mulbury J35, Narayanan V36, Orenstein N37, Galvin-Parton P38, Pedro H39, Pivnick EK40, Powell CM41, Randolph L42, Raskin S43, Rosell J44, Rubin K45, Seashore M46, Schaaf CP47, Scheuerle A48, Schultz M49, Schorry E50, Schnur R51, Siqveland E52, Tkachuk A9, Tonsgard J53, Upadhyaya M22, Verma IC54, Wallace S18, Williams C55, Zackai E30, Zonana J56, Lazaro C57, Claes K29, Korf B1, Martin Y26, Legius E58, Messiaen L1.
Human mutation.Hum Mutat.2015 Nov;36(11):1052-63. doi: 10.1002/humu.22832. Epub 2015 Aug 21.
Neurofibromatosis type 1 (NF1) is one of the most frequent genetic disorders, affecting 1:3,000 worldwide. Identification of genotype-phenotype correlations is challenging because of the wide range clinical variability, the progressive nature of the disorder, and extreme diversity of the mutational
PMID 26178382

Colorectal Cancer due to Constitutional Mismatch Repair Deficiency Mimicking Neurofibromatosis I.

Urganci N1, Genc DB2, Kose G1, Onal Z3, Vidin OO1.
Pediatrics.Pediatrics.2015 Oct;136(4):e1047-50. doi: 10.1542/peds.2015-1426. Epub 2015 Sep 21.
Colorectal carcinoma (CRC) is an extremely rare tumor of childhood that can be associated with cancer predisposition syndromes. A patient with CRC related to constitutional mismatch repair deficiency (CMMRD) syndrome with features of neurofibromatosis type 1 (NF-1) is presented here. A 13-year-old b
PMID 26391938

Japanese Journal

下顎枝後縁に骨欠損を伴った von Recklinghausen 病の1例

櫻井博理,小林武仁,五十嵐朋子,秋場克己,高橋晃治,濱本宜興
日本口腔外科学会雑誌 52(10), 569-573, 2006-10-20
… Two Lisch nodules were detected in the right iris. …
NAID 10018859286

von Recklinghausen Disease in a Patient with X-linked Agammaglobulinemia

HIRATA Daisuke,NARA Hiroyuki,INABA Toshihiro,MUROI Rika,KANEGANE Hirokazu,MIYAWAKI Toshio,OKAZAKI Hitoaki,MINOTA Seiji
Internal medicine 41(11), 1039-1043, 2002-11-01
… The patient also had characteristic features of von Recklinghausen disease, such as numerous subcutaneous nodules, café-au-lait spots, Lisch nodules in the iris and spinal scoliosis. …
NAID 130000767553