一名患有FGFR3基因K650Q突变的儿童出现黑棘皮病和软骨发育不全。
Acanthosis nigricans and hypochondroplasia in a child with a K650Q mutation in FGFR3.
作者信息
Berk David R, Boente Maria Del Carmen, Montanari Daniela, Toloza Maria Guadalupe, Primc Norma Betriz, Prado Maria Ines, Bayliss Susan J, Pique Lynn M, Schrijver Iris
机构信息
Departments of Internal Medicine and Pediatrics, Division of Dermatology, Washington University School of Medicine and St. Louis Children’s Hospital, St. Louis, Missouri 63110, USA.
出版信息
Pediatr Dermatol. 2010 Nov-Dec;27(6):664-6. doi: 10.1111/j.1525-1470.2010.01331.x.
Acanthosis nigricans has been described in several autosomal dominant skeletal dysplasia syndromes due to germline FGFR3 mutations, but rarely specifically in patients with hypochondroplasia. We report a child who presented with extensive acanthosis nigricans, short stature, and radiographic evidence of hypochondroplasia. Genetic analysis revealed a heterozygous K650Q mutation in FGFR3.
黑棘皮症已在几种由于种系FGFR3突变引起的常染色体显性遗传性骨骼发育不良综合征中有所描述，但在软骨发育不全患者中很少有特异性报道。我们报告了一名患有广泛黑棘皮症、身材矮小且有软骨发育不全影像学证据的儿童。基因分析显示FGFR3存在杂合性K650Q突变。
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