Pigmentary changes and atopic dermatitis in a patient with Seckel syndrome

被引:6
作者
Brackeen, Amy [1 ]
Babb-Tarbox, Michelle [1 ]
Smith, Jennifer [1 ]
机构
[1] Texas Tech Univ, Hlth Sci Ctr, Dept Dermatol, Lubbock, TX 79430 USA
关键词
D O I
10.1111/j.1525-1470.2007.00334.x
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Seckel syndrome is a very rare form of primordial dwarfism characterized by antenatal and postnatal growth delay, proportionate extreme short stature, a prominent beak-like nose, hypoplasia of the malar area, small chin, microcephaly, deformed ears lacking lobules, skeletal malformations, mental retardation, and developmental delay. This syndrome has been described with associated disorders of orthopedic, neurologic, hematologic, cardiac, and ocular systems; however, only a few reports mention dermatologic involvement. We describe a 5-year-old girl with classic Seckel syndrome who presented with moderately severe atopic dermatitis and diffuse hypopigmented macules and papules.
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收藏
页码:53 / 56
页数:4
相关论文
共 28 条
[1]  
BARVE R J, 1980, Journal of Postgraduate Medicine (Bombay), V26, P273
[2]   A new locus for Seckel syndrome on chromosome 18p11.31-q11.2 [J].
Borglum, AD ;
Balslev, T ;
Haagerup, A ;
Birkebæk, N ;
Binderup, H ;
Kruse, TA ;
Hertz, JM .
EUROPEAN JOURNAL OF HUMAN GENETICS, 2001, 9 (10) :753-757
[3]   DO SOME PATIENTS WITH SECKEL SYNDROME HAVE HEMATOLOGICAL PROBLEMS AND/OR CHROMOSOME BREAKAGE [J].
BUTLER, MG ;
HALL, BD ;
MACLEAN, RN ;
LOZZIO, CB .
AMERICAN JOURNAL OF MEDICAL GENETICS, 1987, 27 (03) :645-649
[4]   Chromosomal instability at common fragile sites in Seckel syndrome [J].
Casper, AM ;
Durkin, SG ;
Arlt, MF ;
Glover, TW .
AMERICAN JOURNAL OF HUMAN GENETICS, 2004, 75 (04) :654-660
[5]  
Colli R, 1995, Minerva Pediatr, V47, P89
[6]  
ESPEROUBOURDEAU H, 1993, NOUV REV FR HEMATOL, V35, P99
[7]   Clinical and genetic heterogeneity of Seckel syndrome [J].
Faivre, L ;
Le Merrer, M ;
Lyonnet, S ;
Plauchu, H ;
Dagoneau, N ;
Campos-Xavier, AB ;
Attia-Sobol, J ;
Verloes, A ;
Munnich, A ;
Cormier-Daire, V .
AMERICAN JOURNAL OF MEDICAL GENETICS, 2002, 112 (04) :379-383
[8]   PIGMENTARY CHANGES IN SECKELS SYNDROME [J].
FATHIZADEH, A ;
SOLTANI, K ;
MEDENICA, M ;
LORINCZ, AL .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 1979, 1 (01) :52-54
[9]   Autozygosity mapping of a Seckel syndrome locus to chromosome 3q22.1-q24 [J].
Goodship, J ;
Gill, H ;
Carter, J ;
Jackson, A ;
Splitt, M ;
Wright, M .
AMERICAN JOURNAL OF HUMAN GENETICS, 2000, 67 (02) :498-503
[10]   Ocular manifestations of Seckel syndrome [J].
Guirgis, MF ;
Lam, BL ;
Howard, CW .
AMERICAN JOURNAL OF OPHTHALMOLOGY, 2001, 132 (04) :596-597