Abolnezhadian Farhad, Iranparast Sara
Department of Pediatrics, Abuzar Children's Hospital, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Student Research Committee, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran AND Department of Immunology, Ahvaz Jundishapur University of Medical Sciences, Ahvaz, Iran.
Iran J Allergy Asthma Immunol. 2019 Aug 17;18(4):441-446. doi: 10.18502/ijaai.v18i4.1424.
Poikiloderma is a hereditary pathologic situation in which the appearance of skin rash is associated with epidermal atrophy, telangiectasia, and reticular dyspigmentation skin symptoms of poikiloderma are usually caused by sun damage. The main reason forpoikiloderma is unknown. We introduce a 14- month-old boy who referred to our center with a complaint of fever and cough. Furthermore, hepatosplenomegaly symptoms had been presented at the time of birth and were continuously observed at age one. He had transient thrombocytopenia when he was born due to his prematurity condition, which was resolved during Intravenous Immunoglobin (IVIG) treatment. Therefore, the presence of various mutation scan lead to distinct clinical symptoms. Immunohematologic abnormalities such as increased level of IgM and IgE antibodies, as well as increased C-reactive protein (CRP) and Erythrocyte sedimentation rate (ESR), have been reported. However, mutation of the C16orf57 gene was identified in this patient. We also introduced a new genetic mutation in a particular part of DNA sequence (NM_001195302: exon6: c.T703C) that leads to new clinical finding in PN.
皮肤异色症是一种遗传性病理状况，其中皮疹的出现与表皮萎缩、毛细血管扩张和网状色素沉着有关。皮肤异色症的皮肤症状通常由阳光损伤引起。皮肤异色症的主要原因尚不清楚。我们介绍一名14个月大的男孩，他因发烧和咳嗽前来我们中心就诊。此外，肝脾肿大症状在出生时就已出现，并在1岁时持续观察到。由于早产，他出生时出现短暂性血小板减少症，在静脉注射免疫球蛋白（IVIG）治疗期间得到缓解。因此，各种突变扫描的存在会导致不同的临床症状。据报道，存在免疫血液学异常，如IgM和IgE抗体水平升高，以及C反应蛋白（CRP）和红细胞沉降率（ESR）升高。然而，在该患者中鉴定出C16orf57基因的突变。我们还在DNA序列的特定部分（NM_001195302：外显子6：c.T703C）引入了一种新的基因突变，该突变导致了PN的新临床发现。
