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Volumn 209, Issue 3, 2004, Pages 223-227

Multiple myofibromas and an epidermal verrucous nevus in a child with neurofibromatosis type 1

Author keywords

Epidermal nevus; Myofibroma; Neurofibromatosis type 1

Indexed keywords

ARTICLE; CASE REPORT; DISEASE ASSOCIATION; EPIDERMAL VERRUCOUS NEVUS; HUMAN; LEIOMYOMA; MALE; NEUROFIBROMATOSIS; NEVUS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL;

EID: 5644266074     PISSN: 10188665     EISSN: None     Source Type: Journal    
DOI: 10.1159/000079894     Document Type: Article
Times cited : (3)

References (46)
  • 3
    • 0034081412 scopus 로고    scopus 로고
    • Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
    • Messiaen LM, Callens T, Mortier G, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe AD: Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 2000;15:541-555.
    • (2000) Hum Mutat , vol.15 , pp. 541-555
    • Messiaen, L.M.1    Callens, T.2    Mortier, G.3    Beysen, D.4    Vandenbroucke, I.5    Van Roy, N.6    Speleman, F.7    De Paepe, A.D.8
  • 6
    • 0031016513 scopus 로고    scopus 로고
    • Somatic mosaicism for deletion of the entire NF1 gene identified by FISH
    • Wu B, Boles R, Yaari H, Weremowicz S, Schneider G, Korf B: Somatic mosaicism for deletion of the entire NF1 gene identified by FISH. Hum Genet 1997;99:209-213.
    • (1997) Hum Genet , vol.99 , pp. 209-213
    • Wu, B.1    Boles, R.2    Yaari, H.3    Weremowicz, S.4    Schneider, G.5    Korf, B.6
  • 7
    • 0030969205 scopus 로고    scopus 로고
    • Identification of de novo deletions at the NF1 gene: No preferential paternal origin and phenotypic analysis of patients
    • Valero M, Pascual-Castrovieja I, Velasco E, Moreno F, Hernandez-Chico C: Identification of de novo deletions at the NF1 gene: No preferential paternal origin and phenotypic analysis of patients. Hum Genet 1997;99:720-726.
    • (1997) Hum Genet , vol.99 , pp. 720-726
    • Valero, M.1    Pascual-Castrovieja, I.2    Velasco, E.3    Moreno, F.4    Hernandez-Chico, C.5
  • 10
    • 0028799029 scopus 로고
    • Deletion of the entire NF1 gene detected by the FISH: Four deletion patients associated with severe manifestations
    • Wu B, Austin M, Schneider G, Boles R, Korf B: Deletion of the entire NF1 gene detected by the FISH: Four deletion patients associated with severe manifestations. Am J Med Genet 1995;59:528-535.
    • (1995) Am J Med Genet , vol.59 , pp. 528-535
    • Wu, B.1    Austin, M.2    Schneider, G.3    Boles, R.4    Korf, B.5
  • 11
    • 0026641270 scopus 로고
    • Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation and dysmorphism
    • Kayes L, Riccardi VM, Burke W, Bennett RL, Stephens K: Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation and dysmorphism. J Med Genet 1992;29:686-690.
    • (1992) J Med Genet , vol.29 , pp. 686-690
    • Kayes, L.1    Riccardi, V.M.2    Burke, W.3    Bennett, R.L.4    Stephens, K.5
  • 12
    • 0031039550 scopus 로고    scopus 로고
    • Deletion of the entire NF1 gene causing distinct manifestations in a family
    • Wu B, Schneider G, Korf B: Deletion of the entire NF1 gene causing distinct manifestations in a family. Am J Med Genet 1997;69:98-101.
    • (1997) Am J Med Genet , vol.69 , pp. 98-101
    • Wu, B.1    Schneider, G.2    Korf, B.3
  • 14
    • 0030783781 scopus 로고    scopus 로고
    • Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata
    • Leppig K, Kaplan P, Viskochil D, Weaver M, Ortenberg J, Stephens K: Familial neurofibromatosis 1 microdeletions: Cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am J Med Genet 1997;73:197-204.
    • (1997) Am J Med Genet , vol.73 , pp. 197-204
    • Leppig, K.1    Kaplan, P.2    Viskochil, D.3    Weaver, M.4    Ortenberg, J.5    Stephens, K.6
  • 17
    • 0031744843 scopus 로고    scopus 로고
    • Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay
    • Upadhaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, Penttinen M, Cordeiro I, Ponder M, Ponder B, Krawczak M, Cooper D: Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dysmorphic features and developmental delay. Hum Genet 1998;102:591-597.
    • (1998) Hum Genet , vol.102 , pp. 591-597
    • Upadhaya, M.1    Ruggieri, M.2    Maynard, J.3    Osborn, M.4    Hartog, C.5    Mudd, S.6    Penttinen, M.7    Cordeiro, I.8    Ponder, M.9    Ponder, B.10    Krawczak, M.11    Cooper, D.12
  • 21
    • 0033903937 scopus 로고    scopus 로고
    • Dermatological presentations of infantile myofibromatosis: A review of 27 cases
    • Stanford D, Rogers M: Dermatological presentations of infantile myofibromatosis: A review of 27 cases. Australas J Dermatol 2000;41:156-161.
    • (2000) Australas J Dermatol , vol.41 , pp. 156-161
    • Stanford, D.1    Rogers, M.2
  • 24
    • 0018217912 scopus 로고
    • A combined neurofibroma-granular cell tumor of the middle cranial fossa
    • Muller W, Dahmen H: A combined neurofibroma-granular cell tumor of the middle cranial fossa. Pathol Res Pract 1978;163:378-386.
    • (1978) Pathol Res Pract , vol.163 , pp. 378-386
    • Muller, W.1    Dahmen, H.2
  • 25
    • 0014784803 scopus 로고
    • Lentiginosis profusa in daughter and mother: Multiple granular cell 'myoblastomas' in the former
    • Selmanowitz V, Orentreich N: Lentiginosis profusa in daughter and mother: Multiple granular cell 'myoblastomas' in the former. Arch Dermatol 1970;101:615-616.
    • (1970) Arch Dermatol , vol.101 , pp. 615-616
    • Selmanowitz, V.1    Orentreich, N.2
  • 26
    • 0027263916 scopus 로고
    • Multiple cutaneous granular cell tumors with systemic defects: A distinct entity?
    • Bakos L: Multiple cutaneous granular cell tumors with systemic defects: A distinct entity? Int J Dermatol 1993;32:432-435.
    • (1993) Int J Dermatol , vol.32 , pp. 432-435
    • Bakos, L.1
  • 28
    • 34347145755 scopus 로고
    • Ueber Myome, ausgehend von der quergestreiften willku¨rlichen Muskulatur
    • Abrikossoff A: Ueber Myome, ausgehend von der quergestreiften willku¨rlichen Muskulatur. Virchows Arch Pathol Anat 1926;260:215-233.
    • (1926) Virchows Arch Pathol Anat , vol.260 , pp. 215-233
    • Abrikossoff, A.1
  • 29
    • 0025292567 scopus 로고
    • Multiple cutaneous granular cell tumors and neurofibromatosis in childhood
    • Martin R, Neldner K, Boyd A, Coates P: Multiple cutaneous granular cell tumors and neurofibromatosis in childhood. Arch Dermatol 1990;126:1051-1056.
    • (1990) Arch Dermatol , vol.126 , pp. 1051-1056
    • Martin, R.1    Neldner, K.2    Boyd, A.3    Coates, P.4
  • 30
    • 0031042115 scopus 로고    scopus 로고
    • Multiple cutaneous granular cell tumors in a child with possible neurofibromatosis
    • Sahn E, Dunlavey E, Parsons J: Multiple cutaneous granular cell tumors in a child with possible neurofibromatosis. J Am Acad Dermatol 1996;34:327-330.
    • (1996) J Am Acad Dermatol , vol.34 , pp. 327-330
    • Sahn, E.1    Dunlavey, E.2    Parsons, J.3
  • 31
    • 0014275544 scopus 로고
    • Multiple granular-cell myoblastoma (schwannoma) in a child
    • Apted J: Multiple granular-cell myoblastoma (schwannoma) in a child. Br J Dermatol 1968;80:257-260.
    • (1968) Br J Dermatol , vol.80 , pp. 257-260
    • Apted, J.1
  • 32
    • 0019926955 scopus 로고
    • Granular cell variant of neurofibromatosis: Ultrastructure of benign and malignant tumors
    • Finkel G, Lane B: Granular cell variant of neurofibromatosis: Ultrastructure of benign and malignant tumors. Hum Pathol 1982;13:959-963.
    • (1982) Hum Pathol , vol.13 , pp. 959-963
    • Finkel, G.1    Lane, B.2
  • 33
    • 0036828634 scopus 로고    scopus 로고
    • Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma
    • Lampe A, Seymour G, Thompson P, Toutain, Toutain P, Lynch S: Familial neurofibromatosis microdeletion syndrome complicated by rhabdomyosarcoma. Arch Dis Child 2002;87:444-445.
    • (2002) Arch Dis Child , vol.87 , pp. 444-445
    • Lampe, A.1    Seymour, G.2    Thompson, P.3    Toutain4    Toutain, P.5    Lynch, S.6
  • 36
    • 0032914519 scopus 로고    scopus 로고
    • Neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary bladder
    • Reich S, Overberg-Schmidt U, Leenen A, Henze G: Neurofibromatosis 1 associated with embryonal rhabdomyosarcoma of the urinary bladder. Pediatr Hematol Oncol 1999;16:263-266.
    • (1999) Pediatr Hematol Oncol , vol.16 , pp. 263-266
    • Reich, S.1    Overberg-Schmidt, U.2    Leenen, A.3    Henze, G.4
  • 37
    • 0028205305 scopus 로고
    • Modulation of neurofibromatosis type 1 gene expression during in vitro myofibroblast differentiation
    • Gutmann DH, Cole JL, Collins FS: Modulation of neurofibromatosis type 1 gene expression during in vitro myofibroblast differentiation. J Neurosci Res 1994;37:398-405.
    • (1994) J Neurosci Res , vol.37 , pp. 398-405
    • Gutmann, D.H.1    Cole, J.L.2    Collins, F.S.3
  • 39
    • 0028205064 scopus 로고
    • Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint
    • Stosiek N, Ulmer R, von den Driesch P, Claussen U, Hornstein O, Rott HD: Chromosomal mosaicism in two patients with epidermal verrucous nevus. Demonstration of chromosomal breakpoint. J Am Acad Dermatol 1994;30:622-625.
    • (1994) J Am Acad Dermatol , vol.30 , pp. 622-625
    • Stosiek, N.1    Ulmer, R.2    Von Den Driesch, P.3    Claussen, U.4    Hornstein, O.5    Rott, H.D.6
  • 40
  • 41
    • 0037278386 scopus 로고    scopus 로고
    • A case of unilateral, systematized linear hair follicle nevi associated with epidermal nevus-like lesions
    • Ikeda S, Kawada J, Yaguchi H, Ogawa H: A case of unilateral, systematized linear hair follicle nevi associated with epidermal nevus-like lesions. Dermatology 2003;206:172-174.
    • (2003) Dermatology , vol.206 , pp. 172-174
    • Ikeda, S.1    Kawada, J.2    Yaguchi, H.3    Ogawa, H.4
  • 42
    • 0027452134 scopus 로고
    • Mosaicism in human skin
    • Happle R: Mosaicism in human skin. Arch Dermatol 1993;129:1460-1470.
    • (1993) Arch Dermatol , vol.129 , pp. 1460-1470
    • Happle, R.1
  • 43
    • 0034564368 scopus 로고    scopus 로고
    • Association d'un naevus épidermique, d'une neurofibromatose de type 1 et d'un néphroblastome: Un nouveau syndrome du naevus épidermique?
    • Courville P, Thomine E, Surlemont Y, Hemet J, Métayer J, Lauret P: Association d'un naevus épidermique, d'une neurofibromatose de type 1 et d'un néphroblastome: Un nouveau syndrome du naevus épidermique? Ann Pathol 2000;20:616-619.
    • (2000) Ann Pathol , vol.20 , pp. 616-619
    • Courville, P.1    Thomine, E.2    Surlemont, Y.3    Hemet, J.4    Métayer, J.5    Lauret, P.6
  • 45
    • 0033739505 scopus 로고    scopus 로고
    • Bilaterale segmentale Neurofibromatose unter dem Bild eines epidermalen Nävus
    • Gambichler T, Küster W, Wolter M, Rapp S, Altmeyer P, Hoffman K: Bilaterale segmentale Neurofibromatose unter dem Bild eines epidermalen Nävus. Hautarzt 2000;51:862-864.
    • (2000) Hautarzt , vol.51 , pp. 862-864
    • Gambichler, T.1    Küster, W.2    Wolter, M.3    Rapp, S.4    Altmeyer, P.5    Hoffman, K.6
  • 46
    • 0015292349 scopus 로고
    • Neurofibromatosis presenting as epidermal nevus syndrome
    • Stein K, Shmunes E, Thew M: Neurofibromatosis presenting as epidermal nevus syndrome. Arch Dermatol 1972;105:229-232.
    • (1972) Arch Dermatol , vol.105 , pp. 229-232
    • Stein, K.1    Shmunes, E.2    Thew, M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.