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一名早产儿的先天性大理石样皮肤血管扩张症并指畸形:病例报告

Congenital cutis marmorata telangiectatica and syndactyly in a preterm: case report.

作者信息

Ilhan Ozkan, Ozer Esra A, Ozdemir Senem A, Akbay Sinem, Memur Seyma, Kanar Berat, Akar Melek, Sutcuoglu Sumer, Tatli Mustafa M

机构信息

Department of Neonatology, Tepecik Eğitim Ve Araştırma Hastanesi, Konak/İzmir, Turkey.

Department of Neonatology, Tıp Fakültesi, Muğla Sıtkı Koçman Üniversitesi, Kötekli/Muğla, Turkey.

出版信息

Arch Argent Pediatr. 2016 Apr;114(2):e111-3. doi: 10.5546/aap.2016.eng.e111. Epub 2016 Apr 1.

DOI:10.5546/aap.2016.eng.e111
PMID:27079404
Abstract

Cutis marmorata telangiectatica congenita (CMTC) is a rare, commonly benign, congenital, localized or generalized vascular anomaly of unknown aetiology. It is characterized by persistent cutis marmorata, telangiectasia and phlebectasia. Extracutaneous findings may be associated with CMTC in 18.8-70% of the cases. Diagnosis of the disorder is based on the clinical findings. The prognosis is good and improvement is observed within 2 years after birth. Herein, we report a case of a male neonate with CMTC presented on the skin of all his limbs, trunk and face, and an associated anomaly including syndactyly. We present this case because of its rarity.

摘要

先天性大理石样皮肤毛细血管扩张症(CMTC)是一种罕见的、通常为良性的先天性局限性或全身性血管异常,病因不明。其特征为持续性大理石样皮肤、毛细血管扩张和静脉扩张。18.8% - 70%的病例中,CMTC可能伴有皮肤外表现。该疾病的诊断基于临床表现。预后良好,出生后2年内可观察到病情改善。在此,我们报告一例男性新生儿,其四肢、躯干和面部皮肤均出现CMTC,并伴有并指畸形等相关异常。我们报告此病例是因其罕见性。

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