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Volumn 33, Issue 4, 2011, Pages 403-406

Ichthyosis follicularis, alopecia, and photophobia syndrome: A case report and a pathological insight into pilosebaceous anomaly

Author keywords

alopecia; and photophobia (IFAP) syndrome; follicular plugging; ichthyosis follicularis; sebaceous hypoplasia; transverse section

Indexed keywords

ANTICONVULSIVE AGENT; UREA;

EID: 79958259187     PISSN: 01931091     EISSN: 15330311     Source Type: Journal    
DOI: 10.1097/DAD.0b013e3181e8b562     Document Type: Article
Times cited : (11)

References (22)
  • 1
    • 0001425240 scopus 로고
    • Three cases of ichthyosis follicularis associated with baldness
    • McLeod JMH. Three cases of ichthyosis follicularis associated with baldness. Br J Dermatol. 1909;21:165-189.
    • (1909) Br J Dermatol , vol.21 , pp. 165-189
    • Jmh, M.1
  • 2
    • 28544447480 scopus 로고    scopus 로고
    • Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin
    • DOI 10.1111/j.1468-3083.2005.01318.x
    • Khandpur S, Bhat R, Ramam M. Ichthyosis follicularis, alopecia and photophobia (IFAP) syndrome treated with acitretin. J Eur Acad Dermatol Venereol. 2005;19:759-762. (Pubitemid 41743337)
    • (2005) Journal of the European Academy of Dermatology and Venereology , vol.19 , Issue.6 , pp. 759-762
    • Khandpur, S.1    Bhat, R.2    Ramam, M.3
  • 3
    • 64149125961 scopus 로고    scopus 로고
    • IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response
    • Oeffner F, Fischer G, Happle R, et al. IFAP syndrome is caused by deficiency in MBTPS2, an intramembrane zinc metalloprotease essential for cholesterol homeostasis and ER stress response. Am J Hum Genet. 2009;84:459-467.
    • (2009) Am J Hum Genet , vol.84 , pp. 459-467
    • Oeffner, F.1    Fischer, G.2    Happle, R.3
  • 4
    • 0021361312 scopus 로고
    • Transverse microscopic anatomy of the human scalp. A basis for a morphometric approach to disorders of the hair follicle
    • DOI 10.1001/archderm.120.4.449
    • Headington JT. Transverse microscopic anatomy of the human scalp. A basis for a morphometric approach to disorders of the hair follicle. Arch Dermatol. 1984;120:449-456. (Pubitemid 14169587)
    • (1984) Archives of Dermatology , vol.120 , Issue.4 , pp. 449-456
    • Headington, J.T.1
  • 5
    • 0036163178 scopus 로고    scopus 로고
    • Hair counts from scalp biopsy specimens in Asians
    • Lee HJ, Ha SJ, Lee JH, et al. Hair counts from scalp biopsy specimens in Asians. J Am Acad Dermatol. 2002;46:218-221.
    • (2002) J Am Acad Dermatol , vol.46 , pp. 218-221
    • Lee, H.J.1    Ha, S.J.2    Lee, J.H.3
  • 6
    • 27744574835 scopus 로고    scopus 로고
    • Histopathologic findings of horizontal sections of normal scalp from a Korean male
    • Kim WJ, Shin DH, Choi JS, et al. Histopathologic findings of horizontal sections of normal scalp from a Korean male [in Korean]. Korean J Dermatol. 2005;43:1022-1028. (Pubitemid 41599766)
    • (2005) Korean Journal of Dermatology , vol.43 , Issue.8 , pp. 1022-1028
    • Kim, W.J.1    Shin, D.H.2    Choi, J.S.3    Kim, K.H.4    Kim, K.J.5
  • 8
    • 0345517152 scopus 로고    scopus 로고
    • Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia)
    • DOI 10.1002/(SICI)1096-8628(19990806)85:4<365::AID-AJMG12>3.0.CO;2- #
    • Konig A, Happle R. Linear lesions reflecting lyonization in women heterozygous for IFAP syndrome (ichthyosis follicularis with atrichia and photophobia). Am J Med Genet. 1999;85:365-368. (Pubitemid 29339966)
    • (1999) American Journal of Medical Genetics , vol.85 , Issue.4 , pp. 365-368
    • Konig, A.1    Happle, R.2
  • 9
    • 0036586848 scopus 로고    scopus 로고
    • Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients
    • Cambiaghi S, Barbareschi M, Tadini G. Ichthyosis follicularis with atrichia and photophobia (IFAP) syndrome in two unrelated female patients. J Am Acad Dermatol. 2002;46:S156-S158.
    • (2002) J Am Acad Dermatol , vol.46
    • Cambiaghi, S.1    Barbareschi, M.2    Tadini, G.3
  • 10
    • 0345862010 scopus 로고    scopus 로고
    • Ichthyosis Follicularis, Alopecia, and Photophobia (IFAP) Syndrome: Report of a New Family with Additional Features and Review
    • Megarbane H, Zablit C, Waked N, et al. Ichthyosis follicularis, alopecia, and photophobia (IFAP) syndrome: report of a new family with additional features and review. Am J Med Genet A. 2004;124A:323-327. (Pubitemid 38082222)
    • (2004) American Journal of Medical Genetics , vol.A124 , Issue.3 , pp. 323-327
    • Megarbane, H.1    Zablit, C.2    Waked, N.3    Lefranc, G.4    Tomb, R.5    Megarbane, A.6
  • 14
    • 84943431349 scopus 로고
    • Ichthyosis follicularis with alopecia and photophobia
    • DOI 10.1001/archderm.121.9.1167
    • Eramo LR, Esterly NB, Zieserl EJ, et al. Ichthyosis follicularis with alopecia and photophobia. Arch Dermatol. 1985;121:1167-1174. (Pubitemid 15018904)
    • (1985) Archives of Dermatology , vol.121 , Issue.9 , pp. 1167-1174
    • Eramo, L.R.1    Burton Esterly, N.2    Zieserl, E.J.3
  • 15
    • 0025856445 scopus 로고
    • Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome
    • Hamm H, Meinecke P, Traupe H. Further delineation of the ichthyosis follicularis, atrichia, and photophobia syndrome. Eur J Pediatr. 1991;150: 627-629.
    • (1991) Eur J Pediatr , vol.150 , pp. 627-629
    • Hamm, H.1    Meinecke, P.2    Traupe, H.3
  • 16
    • 0026641466 scopus 로고
    • Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome
    • Martino F, D'Eufemia P, Pergola MS, et al. Child with manifestations of dermotrichic syndrome and ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Am J Med Genet. 1992;44:233-236.
    • (1992) Am J Med Genet , vol.44 , pp. 233-236
    • Martino, F.1    D'Eufemia, P.2    Pergola, M.S.3
  • 19
    • 6344280019 scopus 로고    scopus 로고
    • Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome
    • DOI 10.1080/13816810490514405
    • Traboulsi E, Waked N, Megarbane H, et al. Ocular findings in ichthyosis follicularis-alopecia-photophobia (IFAP) syndrome. Ophthalmic Genet. 2004;25:153-156. (Pubitemid 39387187)
    • (2004) Ophthalmic Genetics , vol.25 , Issue.2 , pp. 153-156
    • Traboulsi, E.I.1    Waked, N.2    Megarbane, H.3    Megarbane, A.4
  • 20
    • 0035075247 scopus 로고    scopus 로고
    • IFAP syndrome 'plus' seizures, mental retardation, and callosal hypoplasia
    • DOI 10.1016/S0887-8994(00)00261-7, PII S0887899400002617
    • Bibas-Bonet H, Fauze R, Boente MC, et al. IFAP syndrome "plus" seizures, mental retardation, and callosal hypoplasia. Pediatr Neurol. 2001;24:228-231. (Pubitemid 32294275)
    • (2001) Pediatric Neurology , vol.24 , Issue.3 , pp. 228-231
    • Bibas-Bonet, H.1    Fauze, R.2    Boente, M.C.3    Coronel, A.M.4    Asial, R.5
  • 22
    • 24144459080 scopus 로고    scopus 로고
    • Vertical vs. transverse sections: Both are valuable in the evaluation of alopecia
    • DOI 10.1097/01.dad.0000164602.10908.92
    • Elston DM. Vertical vs. transverse sections: both are valuable in the evaluation of alopecia. Am J Dermatopathol. 2005;27:353-356. (Pubitemid 41232492)
    • (2005) American Journal of Dermatopathology , vol.27 , Issue.4 , pp. 353-356
    • Elston, D.M.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.