CHILD Syndrome: Case Report of a Chinese Patient and Literature Review of the NAD[P]H Steroid Dehydrogenase-Like Protein Gene Mutation

被引:11
作者
Mi, Xiang-bin [1 ]
Luo, Miao-xuan [1 ]
Guo, Lin-lang [2 ]
Zhang, Tang-de [1 ]
Qiu, Xian-wen [1 ]
机构
[1] Southern Med Univ, Zhujiang Hosp, Dept Dermatol, Guangzhou 510280, Guangdong, Peoples R China
[2] Southern Med Univ, Zhujiang Hosp, Dept Pathol, Guangzhou 510280, Guangdong, Peoples R China
关键词
NSDHL GENE; NONSENSE MUTATION; HEMIDYSPLASIA; XANTHOMA; SPECTRUM;
D O I
10.1111/pde.12701
中图分类号
R75 [皮肤病学与性病学];
学科分类号
100206 ;
摘要
Congenital hemidysplasia with ichthyosiform nevus and limb defects (CHILD) syndrome is an X-linked autosomal dominant disorder characterized by unilateral congenital hemidysplasia with ichthyosiform erythroderma and ipsilateral limb defects caused by a mutation in the gene encoding NAD[P]H steroid dehydrogenase-like protein (NSDHL) at Xq28. The histopathologic hallmark of skin lesions in CHILD syndrome is psoriasiform epidermis with hyperkeratosis and parakeratosis, and its most striking feature affecting the upper dermis is filling of the papillary dermis with foam cells. Here we present the case of a 9-year-old Chinese girl born with the typical clinical features of CHILD syndrome. Histologic and immunohistochemical evaluation of the skin lesions confirmed the diagnosis and led to identification of a heterozygous point mutation in exon 8 of the NSDHL gene. In addition, we provide a literature review of 26 unrelated CHILD syndrome patients from different countries, caused by 20 unique gene mutations occurring throughout the entire NSDHL gene, to promote understanding and provide a more comprehensive description of this unusual disorder.
引用
收藏
页码:e277 / e282
页数:6
相关论文
共 30 条
[1]   CHILD syndrome: the NSDHL gene and its role in CHILD syndrome, a rare hereditary disorder [J].
Avgerinou, G. P. ;
Asvesti, A. P. ;
Katsambas, A. D. ;
Nikolaou, V. A. ;
Christofidou, E. C. ;
Grzeschik, K. H. ;
Happle, R. .
JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2010, 24 (06) :733-736
[2]  
BAPTISTA AP, 1979, ANN DERMATOL VENER, V106, P443
[3]   CHILD syndrome in 3 generations -: The importance of mild or minimal skin lesions [J].
Bittar, M ;
Happle, R ;
Grzeschik, KH ;
Leveleki, L ;
Hertl, M ;
Bornholdt, D ;
König, A .
ARCHIVES OF DERMATOLOGY, 2006, 142 (03) :348-351
[4]   CHILD syndrome avant la lettre [J].
Bittar, M ;
Happle, R .
JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY, 2004, 50 (02) :S34-S37
[5]   Mutational spectrum of NSDHL in CHILD syndrome -: art. no. e17 [J].
Bornholdt, D ;
Könog, A ;
Happle, R ;
Leveleki, L ;
Bittar, M ;
Danarti, R ;
Vahlquist, A ;
Tilgen, W ;
Reinhold, U ;
Baptista, AP ;
Grosshans, E ;
Vabres, P ;
Niiyama, S ;
Sasaoka, K ;
Tanaka, T ;
Meiss, AL ;
Treadwell, PA ;
Lambert, D ;
Camacho, F ;
Grzeschik, KH .
JOURNAL OF MEDICAL GENETICS, 2005, 42 (02) :e17
[6]  
Chander Ram, 2010, Dermatol Online J, V16, P6
[7]   CHILD SYNDROME - LACK OF EXPRESSION OF EPIDERMAL DIFFERENTIATION MARKERS IN LESIONAL ICHTHYOTIC SKIN [J].
DALE, BA ;
KIMBALL, JR ;
FLECKMAN, P ;
HERBERT, AA ;
HOLBROOK, KA .
JOURNAL OF INVESTIGATIVE DERMATOLOGY, 1992, 98 (04) :442-449
[8]   Left-sided CHILD syndrome caused by a nonsense mutation in exon 7 of the NSDHL gene [J].
Danarti, Retno ;
Grzeschik, Karl-Heinz ;
Radiono, Sunardi ;
Koenig, Arne ;
Happle, Rudolf .
EUROPEAN JOURNAL OF DERMATOLOGY, 2010, 20 (05) :634-635
[9]  
Garcia-Bravo B., 2002, MED CUTAN IBER LAT A, V30, P120
[10]   Left-sided CHILD syndrome caused by a nonsense mutation in the NSDHL gene [J].
Hummel, M ;
Cunningham, D ;
Mullett, CJ ;
Kelley, RI ;
Herman, GE .
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2003, 122A (03) :246-251