메뉴 건너뛰기




Volumn 51, Issue 5, 2008, Pages 436-443

Additional familial case of subtotal leukonychia and sebaceous cysts (Bauer syndrome): Belong the nervous tumours to the phenotype?

Author keywords

Acoustic neuroma; Autosomal dominant inheritance; Ependymoma; Leukonychia; Neurofibromatosis type 2; Phakomatosis; Sebaceous cysts; White nails

Indexed keywords

ACOUSTIC NEURINOMA; ADOLESCENT; ADULT; AGED; ARTICLE; BAUER SYNDROME; CLINICAL ARTICLE; DNA FLANKING REGION; EPENDYMOMA; FAMILIAL DISEASE; FEMALE; HUMAN; INTRON; LEUKONYCHIA; MALE; NAIL DISEASE; PHENOTYPE; POLYMERASE CHAIN REACTION; SEBACEOUS CYST; SEQUENCE ANALYSIS;

EID: 50549103130     PISSN: 17697212     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ejmg.2008.05.004     Document Type: Article
Times cited : (8)

References (26)
  • 1
    • 0014217629 scopus 로고
    • Knuckle pads, leukonychia and deafness - a dominantly inherited syndrome
    • Bart R.S., and Pumphrey R.E. Knuckle pads, leukonychia and deafness - a dominantly inherited syndrome. New Eng. J. Med. 276 (1967) 202-207
    • (1967) New Eng. J. Med. , vol.276 , pp. 202-207
    • Bart, R.S.1    Pumphrey, R.E.2
  • 2
    • 0028811626 scopus 로고
    • Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome?
    • Basaran E., Yilmaz E., Alpsoy E., and Yilmaz G.G. Keratoderma, hypotrichosis and leukonychia totalis: a new syndrome?. Br. J. Dermatol. 133 (1995) 636-638
    • (1995) Br. J. Dermatol. , vol.133 , pp. 636-638
    • Basaran, E.1    Yilmaz, E.2    Alpsoy, E.3    Yilmaz, G.G.4
  • 3
    • 0005017011 scopus 로고
    • Beiträge zur klinischen Konstitutionspathologie. V. heredofamiliäre Leukonychie und multiple Atherombilderung der Kopfhaut
    • Bauer A.W. Beiträge zur klinischen Konstitutionspathologie. V. heredofamiliäre Leukonychie und multiple Atherombilderung der Kopfhaut. Z. Menschl. Vererb. Konstitutionslehre 5 (1920) 47-58
    • (1920) Z. Menschl. Vererb. Konstitutionslehre , vol.5 , pp. 47-58
    • Bauer, A.W.1
  • 4
    • 0022774645 scopus 로고
    • Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease
    • Bettoli V., and Tosti A. Leukonychia totalis and partialis: a single family presenting a peculiar course of the disease. J. Am. Acad. Dermatol. 15 (1986) 535
    • (1986) J. Am. Acad. Dermatol. , vol.15 , pp. 535
    • Bettoli, V.1    Tosti, A.2
  • 5
    • 0016789331 scopus 로고
    • Leukonychia totalis, multiple sebaceous cysts, and renal calculi
    • Bushkell L.L., and Gorlin R.J. Leukonychia totalis, multiple sebaceous cysts, and renal calculi. Arch. Dermatol. 111 (1975) 899-901
    • (1975) Arch. Dermatol. , vol.111 , pp. 899-901
    • Bushkell, L.L.1    Gorlin, R.J.2
  • 8
    • 0022447394 scopus 로고
    • The FLOTCH syndrome. Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity
    • Friedel J., Heid E., and Grosshans E. The FLOTCH syndrome. Familial occurrence of total LeukOnychia, Trichilemmal cysts and Ciliary dystrophy with dominant autosomal Heredity. Ann. Dermatol. Venereol. 113 (1986) 549-553
    • (1986) Ann. Dermatol. Venereol. , vol.113 , pp. 549-553
    • Friedel, J.1    Heid, E.2    Grosshans, E.3
  • 9
    • 0027368458 scopus 로고
    • Leukonychia totalis in two sibs
    • Frydman M., and Cohen H.A. Leukonychia totalis in two sibs. Am. J. Med. Genet. 47 (1993) 540-541
    • (1993) Am. J. Med. Genet. , vol.47 , pp. 540-541
    • Frydman, M.1    Cohen, H.A.2
  • 10
    • 0027248359 scopus 로고
    • Leukonychia totalis associated with keratosis pilaris and hyperhidrosis
    • Galadari I., and Mohsen S. Leukonychia totalis associated with keratosis pilaris and hyperhidrosis. Int. J. Dermatol. 32 (1993) 524-525
    • (1993) Int. J. Dermatol. , vol.32 , pp. 524-525
    • Galadari, I.1    Mohsen, S.2
  • 12
    • 0016811628 scopus 로고
    • Leukonychia totalis, multiple sebaceous cysts and renal calculi: a syndrome
    • Gorlin R.J., Bushkell L.L., and Jensen G. Leukonychia totalis, multiple sebaceous cysts and renal calculi: a syndrome. Birth Defects Orig. Artic Ser. 11 (1975) 19-21
    • (1975) Birth Defects Orig. Artic Ser. , vol.11 , pp. 19-21
    • Gorlin, R.J.1    Bushkell, L.L.2    Jensen, G.3
  • 13
    • 0025036442 scopus 로고
    • Leukonychia: review and classification
    • Grossman M., and Scher R.K. Leukonychia: review and classification. Int. J. Dermatol. 29 (1990) 535-541
    • (1990) Int. J. Dermatol. , vol.29 , pp. 535-541
    • Grossman, M.1    Scher, R.K.2
  • 14
    • 0025903899 scopus 로고
    • Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs
    • Heimler A., Fox J.E., Hershey J.E., and Crespi P. Sensorineural hearing loss, enamel hypoplasia, and nail abnormalities in sibs. Am. J. Med. Genet. 39 (1991) 192-195
    • (1991) Am. J. Med. Genet. , vol.39 , pp. 192-195
    • Heimler, A.1    Fox, J.E.2    Hershey, J.E.3    Crespi, P.4
  • 15
    • 50549088054 scopus 로고
    • Familial hypolipidaemia and retarded development without steatorrhoea: another inborn of metabolism
    • Hooft C., De Laey P., Herpol J., De Loore F., and Verbeeck J. Familial hypolipidaemia and retarded development without steatorrhoea: another inborn of metabolism. Helv. Paediat. Acta 17 (1962) 1-23
    • (1962) Helv. Paediat. Acta , vol.17 , pp. 1-23
    • Hooft, C.1    De Laey, P.2    Herpol, J.3    De Loore, F.4    Verbeeck, J.5
  • 16
    • 0020448268 scopus 로고
    • Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome
    • Ingegno A.P., and Yatto R.P. Hereditary white nails (leukonychia totalis), duodenal ulcer, and gallstones. Genetic implications of a syndrome. N.Y. State J. Med. 79 (1982) 1797-1800
    • (1982) N.Y. State J. Med. , vol.79 , pp. 1797-1800
    • Ingegno, A.P.1    Yatto, R.P.2
  • 18
    • 0032790899 scopus 로고    scopus 로고
    • A missence mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families
    • Maestrini E., Korge B.P., Ocana-Sierra J., Calzolari E., Cambiagi E., Scudder P.M., et al. A missence mutation in connexin26, D66H, causes mutilating keratoderma with sensorineural deafness (Vohwinkel's syndrome) in three unrelated families. Hum. Mol. Genet. 8 (1999) 1237-1243
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 1237-1243
    • Maestrini, E.1    Korge, B.P.2    Ocana-Sierra, J.3    Calzolari, E.4    Cambiagi, E.5    Scudder, P.M.6
  • 19
    • 15844391073 scopus 로고    scopus 로고
    • A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome
    • Maestrini E., Monaco A.P., McGrath J.A., Ishida-Yamamoto A., Camisa C., Hovnanian A., et al. A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nature Genet. 13 (1996) 70-77
    • (1996) Nature Genet. , vol.13 , pp. 70-77
    • Maestrini, E.1    Monaco, A.P.2    McGrath, J.A.3    Ishida-Yamamoto, A.4    Camisa, C.5    Hovnanian, A.6
  • 22
    • 6344225698 scopus 로고    scopus 로고
    • Expanding the phenotype spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missence mutation in GJB2
    • Richard G., Brown N., Ishida-Yamamoto A., and Krol A. Expanding the phenotype spectrum of Cx26 disorders: Bart-Pumphrey syndrome is caused by a novel missence mutation in GJB2. J. Invest. Derm. 123 (2004) 856-863
    • (2004) J. Invest. Derm. , vol.123 , pp. 856-863
    • Richard, G.1    Brown, N.2    Ishida-Yamamoto, A.3    Krol, A.4
  • 23
    • 0030844695 scopus 로고    scopus 로고
    • A syndrome of Leukonychia totalis and multiple sebaceous cysts
    • Slee J.J., Wallman I.S., and Goldblatt J. A syndrome of Leukonychia totalis and multiple sebaceous cysts. Clin. Dysmorphol. 6 (1997) 229-233
    • (1997) Clin. Dysmorphol. , vol.6 , pp. 229-233
    • Slee, J.J.1    Wallman, I.S.2    Goldblatt, J.3
  • 24
    • 0001245331 scopus 로고
    • Keratoma hereditarium mutilans
    • Vohwinkel K.H. Keratoma hereditarium mutilans. Arch. Derm. Syph. 158 (1929) 354-364
    • (1929) Arch. Derm. Syph. , vol.158 , pp. 354-364
    • Vohwinkel, K.H.1
  • 25
    • 11444254881 scopus 로고    scopus 로고
    • Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis
    • Wallace A.J., Watson C.J., Oward E., Evans D.G., and Elles R.G. Mutation scanning of the NF2 gene: an improved service based on meta-PCR/sequencing, dosage analysis, and loss of heterozygosity analysis. Genet. Test 8 (2004) 368-380
    • (2004) Genet. Test , vol.8 , pp. 368-380
    • Wallace, A.J.1    Watson, C.J.2    Oward, E.3    Evans, D.G.4    Elles, R.G.5
  • 26
    • 0028871257 scopus 로고
    • Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome
    • Yamamoto T., Tohyama J., Koeda T., Maegaki Y., and Takahashi Y. Multiple epiphyseal dysplasia with small head, congenital nystagmus, hypoplasia of corpus callosum, and leukonychia totalis: a variant of Lowry-Wood syndrome. Am. J. Med. Genet. 56 (1995) 6-9
    • (1995) Am. J. Med. Genet. , vol.56 , pp. 6-9
    • Yamamoto, T.1    Tohyama, J.2    Koeda, T.3    Maegaki, Y.4    Takahashi, Y.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.