Kasparis Christos, Loffeld Annette
Department of Dermatology, South Warwickshire Foundation Trust, Warwick, West Midlands, UK.
BMJ Case Rep. 2014 Jan 6;2014:bcr2013201587. doi: 10.1136/bcr-2013-201587.
A 3-year-old boy was referred to the dermatology department with a 12-month history of facial erythema associated with a papular-pustular facial eruption consistent with childhood acne. He had been diagnosed with XYY syndrome identified during genetic analysis for cardiac anomalies at birth. XYY syndrome is an aneuploidy of the sex chromosomes which affects 1 in 1000 male births. It is often asymptomatic and identified incidentally following genetic analysis for other conditions. The syndrome can be associated with an increased risk of learning difficulties and delayed language skills. Early diagnosis could alert physicians to the possibility of subtle developmental and learning abnormalities and result in prompt management. Our case highlights the fact that the presence of childhood acne could aid in the early detection of XYY syndrome.
一名3岁男孩因面部红斑伴丘疹脓疱性面部皮疹12个月被转诊至皮肤科,该皮疹符合儿童痤疮表现。他在出生时因心脏异常进行基因分析时被诊断出患有XYY综合征。XYY综合征是性染色体非整倍体,在每1000例男性出生中就有1例受影响。它通常无症状,在因其他疾病进行基因分析时偶然发现。该综合征可能与学习困难风险增加和语言技能发育迟缓有关。早期诊断可提醒医生注意存在细微发育和学习异常的可能性,并促使及时进行管理。我们的病例突出了儿童痤疮的存在有助于早期发现XYY综合征这一事实。