Bloom Syndrome in Two Siblings

被引:7
|
作者
Sultan, Sheikh Javeed [1 ]
Sultan, Sheikh Tariq [2 ]
机构
[1] SKIMS Med Coll, Srinagar, Jammu & Kashmir, India
[2] Govt Med Coll, Srinagar, Jammu & Kashmir, India
关键词
CONGENITAL TELANGIECTATIC ERYTHEMA; SISTER CHROMATID EXCHANGES; GROWTH RETARDATION; MUTATION; BREAKAGE;
D O I
10.1111/j.1525-1470.2010.01101.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Bloom syndrome (congenital telangiectatic erythema) is a rare autosomal recessive disorder characterized by telangiectasias and photosensitivity, growth deficiency of prenatal onset, variable degrees of immunodeficiency, and increased susceptibility to neoplasms of many sites and types. We are reporting Bloom syndrome in two brothers from Kashmir (India), 8 and 6 years of age, who presented with erythematous rashes on the face, photosensitivity, and growth retardation.
引用
下载
收藏
页码:174 / 177
页数:4
相关论文
共 50 条
  • [1] Bloom syndrome: presentation of two siblings
    Baris, Safa
    Aydiner, Elif Karakoc
    Ozen, Ahmet
    Ozdemir, Cevdet
    Bahceciler, Nerin N.
    Barlan, Isil B.
    ASTIM ALLERJI IMMUNOLOJI, 2010, 8 (01): : 64 - 68
  • [2] Bloom syndrome: report of two cases in siblings
    Shah, Hita
    Sheth, Frenny J.
    Pandit, Vishalakshi S.
    Langanecha, Bhavik
    INTERNATIONAL JOURNAL OF DERMATOLOGY, 2013, 52 (08) : 990 - 992
  • [3] Management of malignant lymphoma in two siblings with Bloom's syndrome
    Kaneko, H
    Inoue, R
    Yamada, Y
    Fukao, T
    Kondo, N
    ONCOLOGY REPORTS, 1997, 4 (06) : 1281 - 1283
  • [4] Two Japanese siblings with Bloom syndrome gene mutation and B-cell lymphoma
    Kaneko, H
    Inoue, R
    Fukao, T
    Kasahara, K
    Tashita, H
    Teramoto, T
    Kondo, N
    LEUKEMIA & LYMPHOMA, 1997, 27 (5-6) : 539 - 542
  • [5] Two siblings with Bloom's syndrome exhibit different clinical features:: Possible effect of sex
    Boduroglu, K
    Tunçbilek, E
    TURKISH JOURNAL OF PEDIATRICS, 1999, 41 (01) : 107 - 111
  • [6] The MNGIE syndrome in two siblings
    Debouverie, M
    Wagner, M
    Ducrocq, X
    Grignon, Y
    Mousson, B
    Weber, M
    REVUE NEUROLOGIQUE, 1997, 153 (10) : 547 - 553
  • [7] Crouzon syndrome in two siblings
    Madi, Medhini
    Babu, Subhas G.
    Bhat, Supriya
    Madiyal, Ananya
    Castelino, Renita
    CUKUROVA MEDICAL JOURNAL, 2018, 43 (02): : 521 - 524
  • [8] Two Siblings with Alstrom Syndrome
    Cebeci, Ayse Nurcan
    Yesil, Gozde
    Ekici, Baris
    HORMONE RESEARCH IN PAEDIATRICS, 2018, 90 : 455 - 455
  • [9] Two siblings with Netherton syndrome
    Emre, Selma
    Metin, Ahmet
    Demirseren, D. Deniz
    Yorulmaz, Ahu
    Onursever, Aykut
    Kaftan, Burcin
    TURKISH JOURNAL OF MEDICAL SCIENCES, 2010, 40 (05) : 819 - 823
  • [10] Alstrom syndrome in two siblings
    Hung, YJ
    Jeng, CY
    Pei, D
    Chou, PI
    Wu, DA
    JOURNAL OF THE FORMOSAN MEDICAL ASSOCIATION, 2001, 100 (01) : 45 - 49