Al-Khenaizan Sultan, AlSwailem Asma, AlBalwi Mohammed Ali
Division of Dermatology, Department of Pediatrics, King Abdulaziz Medical City, National Guard Health Affairs, Riyadh, Saudi Arabia.
Division of Dermatology, King Saud Medical City, Riyadh, Saudi Arabia.
Case Rep Dermatol. 2021 Sep 21;13(3):470-473. doi: 10.1159/000519035. eCollection 2021 Sep-Dec.
Ichthyosis prematurity syndrome is a rare autosomal recessive genodermatosis that is associated with mutations in the gene. Its onset occurs in early childhood and presents with the clinical triad of premature birth, thick caseous desquamating epidermis, and neonatal asphyxia. Here, we describe a prematurely born baby patient (33 weeks of gestation) with a homozygous variant at the initiation codon site (. A> , .) in the gene to raise awareness of this rare syndrome despite its distinctive features as we believe it is still underdiagnosed.
鱼鳞病早产综合征是一种罕见的常染色体隐性遗传性皮肤病，与该基因的突变有关。其发病于儿童早期，表现为早产、厚的干酪样脱屑性表皮和新生儿窒息这一临床三联征。在此，我们描述了一名早产婴儿患者（妊娠33周），其该基因起始密码子位点（.A>，.）存在纯合变异，以提高对这种罕见综合征的认识，尽管其具有独特特征，但我们认为它仍未得到充分诊断。
