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Congenital Cutis Verticis Gyrata in a Newborn with Turner Syndrome: A Rare Clinical Manifestation of This Chromosomal Disease with Trichoscopic Evaluation.患有特纳综合征的新生儿先天性皮肤回旋状头皮:这种染色体疾病的罕见临床表现及皮肤镜评估
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本文引用的文献

1
Clinical insights from an unusual Turner syndrome manifestation: Congenital cutis verticis gyrata.特纳综合征不常见临床表现的临床启示:先天性脑回样头皮过多症。
Am J Med Genet A. 2023 Jun;191(6):1669-1671. doi: 10.1002/ajmg.a.63183. Epub 2023 Mar 18.
2
Congenital Primary Essential Cutis Verticis Gyrata.先天性原发性真性头皮回旋症
Eplasty. 2016 Apr 12;16:ic13. eCollection 2016.
3
[Developmental abnormalities and nevi of the scalp].[头皮的发育异常与痣]
Hautarzt. 2014 Dec;65(12):1022-9. doi: 10.1007/s00105-014-3521-9.
4
Isolated cutis verticis gyrata of the glabella and nasal bridge: a case report and review of the literature.额部和鼻梁孤立性脑回状头皮角化病:病例报告及文献复习。
J Plast Reconstr Aesthet Surg. 2013 Oct;66(10):1421-3. doi: 10.1016/j.bjps.2013.01.040. Epub 2013 Feb 21.
5
Cutis verticis gyrata: three cases with different aetiologies that demonstrate the classification system.头皮松垂症:三例病因不同的病例展示分类系统
Australas J Dermatol. 2007 May;48(2):91-4. doi: 10.1111/j.1440-0960.2007.00343.x.
6
Scalp lesions in Turner syndrome: a result of lymphoedema?特纳综合征中的头皮病变:淋巴水肿的结果?
Clin Dysmorphol. 2004 Jul;13(3):165-168. doi: 10.1097/01.mcd.0000127469.49759.10.
7
Congenital primary cutis verticis gyrata.
Plast Reconstr Surg. 2002 Sep 1;110(3):818-21. doi: 10.1097/00006534-200209010-00015.
8
Lymphedema as a postulated cause of cutis verticis gyrata in Turner syndrome.淋巴水肿被认为是特纳综合征中头皮回状颅皮的一个病因。
Pediatr Dermatol. 1998 Jan-Feb;15(1):18-22. doi: 10.1046/j.1525-1470.1998.1998015018.x.

患有特纳综合征的新生儿先天性皮肤回旋状头皮:这种染色体疾病的罕见临床表现及皮肤镜评估

Congenital Cutis Verticis Gyrata in a Newborn with Turner Syndrome: A Rare Clinical Manifestation of This Chromosomal Disease with Trichoscopic Evaluation.

作者信息

Bortone Riccardo, Bonamonte Domenico, Cazzato Gerardo, Laface Carmelo, Gaeta Alberto, Lettini Teresa, Foti Caterina, Filotico Raffaele, Ambrogio Francesca

机构信息

Section of Dermatology and Venereology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy.

Section of Molecular Pathology, Department of Precision and Regenerative Medicine and Ionian Area (DiMePRe-J), University of Bari "Aldo Moro", 70124 Bari, Italy.

出版信息

Diagnostics (Basel). 2023 Aug 2;13(15):2574. doi: 10.3390/diagnostics13152574.

DOI:10.3390/diagnostics13152574
PMID:37568939
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC10417669/
Abstract

Cutis verticis gyrata (CVG) is a rare disorder of the scalp that entails the development of ridges and furrows, which mimic the anatomical conformation of the brain. This skin condition has been classified in primary essential, primary non-essential, and secondary CVG, depending on the presence or absence of other associated disorders. We present the case report of a one-month-old female newborn affected by congenital CVG (CCVG), who also received a diagnosis of Turner syndrome (TS). Skin folding was present at birth and located at the left frontal region of the scalp in the sagittal plane. Our purpose was to make this pathology clinically and tricoscopically better known, since it can be related to different genetic, inflammatory, and neoplastic conditions, etc. Non-invasive investigations, such as ultrasonography (U/S) of the brain and scalp and trichoscopy, were also used to obtain the important clues necessary to help in the CVG classification. The clinical diagnosis and trichoscopical investigation of CVG may also be useful for those patients who may have a genetic disease that is not screened for during prenatal examinations.

摘要

头皮回状颅皮(CVG)是一种罕见的头皮疾病,会形成隆起和沟纹,类似大脑的解剖结构。根据是否存在其他相关疾病,这种皮肤状况可分为原发性本质性、原发性非本质性和继发性CVG。我们报告一例患有先天性CVG(CCVG)的1个月大女婴病例,她还被诊断为特纳综合征(TS)。出生时即存在皮肤褶皱,位于头皮矢状面的左额部。我们的目的是让这种病理状况在临床和毛发镜检查方面得到更广泛的了解,因为它可能与不同的遗传、炎症和肿瘤性疾病等有关。还使用了非侵入性检查,如脑部和头皮的超声检查(U/S)以及毛发镜检查,以获取有助于CVG分类的重要线索。CVG的临床诊断和毛发镜检查对于那些可能患有产前检查未筛查的遗传疾病的患者也可能有用。