Curry-Jones综合征1例国内首报

Curry-Jones syndrome:the first case reported in China

患儿男,3岁6个月,生后即发现多发带状分布的白色斑疹,随身体等比例生长,无自觉症状,伴右手拇指畸形及右手活动障碍。患儿平素不喜与人交流,注意力较同龄儿童差。否认家族史。体检:神志清,精神可,语言表达欠佳;特殊面容,右手拇指关节较左侧略膨大;心、肺、腹未见异常。皮肤科检查:右胸部、右上肢屈侧、下腹正中线及右下肢可见大小不等的多发片状、带状不规则白色斑疹,部分斑疹融合,大致沿Blaschko线分布,局部略隆起;右手掌、拇指桡侧可见条带状褐色斑。下肢白斑皮损组织病理检查示基底样毛囊错构瘤。头颅磁共振成像提示胼胝体发育不全。患儿病变组织全外显子测序显示SMO基因突变c.1234C>T(p.L412F),父母均无该位点突变。根据皮损表现、病理及基因检测结果,该患儿诊断为Curry-Jones综合征,SMO基因突变c.1234C>T(p.L412F)可能是其致病原因。予患儿右手拇指功能锻炼并密切随访。

A 3-year-6-month-old boy presented with multiple asymptomatic banded white macules at birth,which expanded in proportion to his body,and deformity of his right thumb with slight dyskinesia.The patient showed difficulty in communication and concentration compared with children of the same age.The family history was unremarkable.The child had clear consciousness,passable spirits,and poor language ability.Physical examination revealed a special face and slight macrodactyly of the right thumb joints,and the heart,lung,and abdominal examination was otherwise normal.Skin examination showed multiple banded or confluent irregular white macules of varying sizes and slightly elevated plaques distributed along the Blaschko′s lines on the right chest,the flexor aspect of the right upper limb,the median line of the lower abdomen,and the right lower limbs,and banded brown macules on the palmar side of the right hand and radial aspect of the right thumb.Histopathological findings of the while macule on the lower limb were consistent with basaloid follicular hamartoma.Cranial magnetic resonance imaging revealed agenesis of the corpus callosum.Whole-exome sequencing of the lesional tissue showed a mutation c.1234C>T(p.L412F)in the SMO gene,which was not found in his parents.A diagnosis of Curry-Jones syndrome was made based on the skin lesions,and pathological and genetic findings.The mutation c.1234C>T(p.L412F)in the SMO gene may contribute to the disease.The patient continued functional exercises to improve the mobility of his right thumb,and underwent a close follow-up.