Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype
Ichthyosis prematurity syndrome: A well-defined congenital ichthyosis subtype
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DOI：
10.1016/j.jaad.2008.06.014
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发表时间：
2008-11-01
影响因子：
13.8
通讯作者：
Brandrup, Flemming
中科院分区：
文献类型：
--
作者：
Bygum, Anette;Westermark, Per;Brandrup, Flemming
鱼鳞病早产综合征是以早产、表皮厚干酪样剥落和新生儿窒息为临床三联征的罕见综合征。我们描述了两个患有鱼鳞病早产综合症的兄弟姐妹。指标患者出生于妊娠第 34 周。出生后他立即出现呼吸窘迫并需要插管。注意到显着的皮肤变化，普遍出现红色水肿和剥落的海绵状皮肤，给人一种过度胎脂的印象。几周内观察到水肿和鱼鳞鳞屑明显消退。父母回忆说，他的姐姐出生时也有类似但较轻微的皮肤变化和呼吸窘迫综合征。提出了鱼鳞病早产综合症，并且皮肤活检标本的电子显微镜检查显示角质层和颗粒层中特有的三层膜聚集，支持了诊断。诊断这种综合征对于让父母、产科医生和儿科医生放心非常重要，因为围产期并发症后该综合征是良性的。 （J Am Acad Dermatol 2008：59：S（-）1-1。）
Ichthyosis prematurity syndrome is a rare syndrome characterized by the clinical triad of premature birth thick caseous desquamating epidermis and neonatal asphyxia. We describe two siblings with ichthyosis prematurity syndrome. The index patient was born at gestational week 34. Immediatley after birth he developed respiratory distress and needed intubation. Remarkable skin changes were noticed with universal red edematous and desquamating spongy skin giving an impression of execessive vernix caseosa. Marked regression of the edema and ichthyotic scaling was observed within a few weeks. The parents recalled that his elder sister had similar but milder skin changes and respiratory distress syndrome at birth. Ichthyosis prematurity syndome was suggested and the diagnosis supported by electron microscopy of skin biopsy specimen showing pathognomonic trilamellar membrane aggregations in the stratum corneum and stratum granulosum. Diagnosing this syndrome is importnat to reassure parents, obstetricians, and pediatricians about its benign course after complications in the perinatal period. (J Am Acad Dermatol 2008:59:S(-)1-1.)