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Multiple cafe-au-lait spots

MedGen UID:
396266
Concept ID:
C1861975
Disease or Syndrome
Synonym: Neurofibromatosis type 6
SNOMED CT: Multiple café-au-lait syndrome (1208340009); NF6 - neurofibromatosis type 6 (1208340009); Neurofibromatosis type 6 (1208340009); Familial café-au-lait spots (1208340009); Multiple café-au-lait spots (1208340009); Familial CALMs (café-au-lait macules) isolated (1208340009); Familial isolated café-au-lait spots (1208340009); Familial isolated café-au-lait macules (1208340009)
 
HPO: HP:0007565
Monarch Initiative: MONDO:0007245
OMIM®: 114030

Definition

The presence of six or more cafe-au-lait spots. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVMultiple cafe-au-lait spots

Conditions with this feature

Professional guidelines

PubMed

Zhang J, Tong H, Fu X, Zhang Y, Liu J, Cheng R, Liang J, Peng J, Sun Z, Liu H, Zhang F, Lu W, Li M, Yao Z
Sci Rep 2015 Jun 9;5:11291. doi: 10.1038/srep11291. PMID: 26056819Free PMC Article
Riccardi VM
Arch Dermatol 2009 Aug;145(8):929-30. doi: 10.1001/archdermatol.2009.180. PMID: 19687427

Recent clinical studies

Etiology

Sağ E, Erkut M, Saygin İ, Çebi AH, Bahadir A, Erduran E, Saruhan H, Cakir M
J Pediatr Hematol Oncol 2020 Oct;42(7):e689-e691. doi: 10.1097/MPH.0000000000001614. PMID: 31599855
Chiu C, Loth S, Kuhlen M, Ginzel S, Schaper J, Rosenbaum T, Pietsch T, Borkhardt A, Hoell JI
Fam Cancer 2019 Jul;18(3):353-358. doi: 10.1007/s10689-019-00121-z. PMID: 30680470
St John J, Summe H, Csikesz C, Wiss K, Hay B, Belazarian L
Pediatr Dermatol 2016 Sep;33(5):526-9. Epub 2016 Jul 28 doi: 10.1111/pde.12936. PMID: 27469520
Schorry EK, Lovell AM, Milatovich A, Saal HM
Am J Med Genet 1996 Dec 30;66(4):423-5. doi: 10.1002/(SICI)1096-8628(19961230)66:4<423::AID-AJMG6>3.0.CO;2-L. PMID: 8989459
Alper J, Holmes LB, Mihm MC Jr
J Pediatr 1979 Nov;95(5 Pt 1):696-700. doi: 10.1016/s0022-3476(79)80713-1. PMID: 114614

Diagnosis

Neri I, Lambertini M, Tengattini V, Rivalta B, Patrizi A
Pediatr Dermatol 2017 May;34(3):e152-e153. doi: 10.1111/pde.13126. PMID: 28523880
St John J, Summe H, Csikesz C, Wiss K, Hay B, Belazarian L
Pediatr Dermatol 2016 Sep;33(5):526-9. Epub 2016 Jul 28 doi: 10.1111/pde.12936. PMID: 27469520
Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K
Am J Med Genet A 2014 Feb;164A(2):392-6. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36288. PMID: 24311457
Jabbour SA, Davidovici BB, Wolf R
Clin Dermatol 2006 Jul-Aug;24(4):299-316. doi: 10.1016/j.clindermatol.2006.04.005. PMID: 16828412
Brownstein S, Little JM
Ophthalmology 1983 Dec;90(12):1595-9. doi: 10.1016/s0161-6420(83)34371-2. PMID: 6429597

Therapy

Obo T, Koriyama N, Tokito A, Ogiso K, Nishio Y
J Med Case Rep 2020 May 9;14(1):56. doi: 10.1186/s13256-020-02381-1. PMID: 32384911Free PMC Article
Amayiri N, Al-Hussaini M, Swaidan M, Jaradat I, Qandeel M, Tabori U, Hawkins C, Musharbash A, Alsaad K, Bouffet E
Childs Nerv Syst 2016 Mar;32(3):553-7. Epub 2015 Aug 21 doi: 10.1007/s00381-015-2883-3. PMID: 26293676
Waheed W, Nathan MH, Allen GB, Borden NM, Babi MA, Tandan R
BMJ Case Rep 2015 Nov 3;2015 doi: 10.1136/bcr-2015-210816. PMID: 26531733Free PMC Article
Mamkin I, Philibert P, Anhalt H, Ten S, Sultan C
Horm Res Paediatr 2010;73(3):215-22. Epub 2010 Mar 3 doi: 10.1159/000284365. PMID: 20197676
Legbo JN, Shehu BB, Malami SA
East Afr Med J 2005 Jan;82(1):47-9. doi: 10.4314/eamj.v82i1.9294. PMID: 16122112

Prognosis

Wang Y, Song S, Li Z, Zhao Y, Miao J, Wang Z
Medicine (Baltimore) 2023 Jul 21;102(29):e34413. doi: 10.1097/MD.0000000000034413. PMID: 37478251Free PMC Article
Sağ E, Erkut M, Saygin İ, Çebi AH, Bahadir A, Erduran E, Saruhan H, Cakir M
J Pediatr Hematol Oncol 2020 Oct;42(7):e689-e691. doi: 10.1097/MPH.0000000000001614. PMID: 31599855
Chiu C, Loth S, Kuhlen M, Ginzel S, Schaper J, Rosenbaum T, Pietsch T, Borkhardt A, Hoell JI
Fam Cancer 2019 Jul;18(3):353-358. doi: 10.1007/s10689-019-00121-z. PMID: 30680470
Tato BP, Sáez AC, Recuero JL, Dorado MM, Fernández PR, de Paz FS
J Eur Acad Dermatol Venereol 2005 Sep;19(5):608-11. doi: 10.1111/j.1468-3083.2005.01225.x. PMID: 16164720
Alper J, Holmes LB, Mihm MC Jr
J Pediatr 1979 Nov;95(5 Pt 1):696-700. doi: 10.1016/s0022-3476(79)80713-1. PMID: 114614

Clinical prediction guides

Wang Y, Song S, Li Z, Zhao Y, Miao J, Wang Z
Medicine (Baltimore) 2023 Jul 21;102(29):e34413. doi: 10.1097/MD.0000000000034413. PMID: 37478251Free PMC Article
Takenouchi T, Shimizu A, Torii C, Kosaki R, Takahashi T, Saya H, Kosaki K
Am J Med Genet A 2014 Feb;164A(2):392-6. Epub 2013 Dec 5 doi: 10.1002/ajmg.a.36288. PMID: 24311457
Arnsmeier SL, Riccardi VM, Paller AS
Arch Dermatol 1994 Nov;130(11):1425-6. PMID: 7979446
Charrow J, Listernick R, Ward K
Am J Med Genet 1993 Mar 1;45(5):606-8. doi: 10.1002/ajmg.1320450518. PMID: 8456833
Park JP, Graham JM Jr, Andrews PA, Wurster-Hill DH
Am J Med Genet 1988 Feb;29(2):437-40. doi: 10.1002/ajmg.1320290228. PMID: 3354616

Recent systematic reviews

Antico A, Vitulli F, Rossi A, Gaggero G, Piatelli G, Consales A
Childs Nerv Syst 2024 Jan;40(1):27-39. Epub 2023 Nov 23 doi: 10.1007/s00381-023-06232-4. PMID: 37993698

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