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[痣及痣样皮肤疾病的最新进展]

[Update on nevi and nevoid skin disorders].

作者信息

Happle Rudolf

机构信息

Universitäts-Hautklinik, Hauptstr. 7, 79104, Freiburg, Deutschland.

出版信息

Dermatologie (Heidelb). 2023 May;74(5):310-315. doi: 10.1007/s00105-023-05135-4. Epub 2023 Mar 17.

DOI:10.1007/s00105-023-05135-4
PMID:36932209
Abstract

Autosomal dominant transmission with sex-limited manifestation represents a previously unrecognized mode of inheritance. The white lentiginosis of Grosshans exclusively occurs in females, whereas male gene carriers remain clinically unaffected but can transmit the underlying mutation to their offspring. There are some other examples: Hereditary bilateral lymphedema of the CELSR1 type that only occurs in females, too. Unlike common sebaceous nevus (HRAS or KRAS mutations), cerebriform sebaceous nevus is caused by a postzygotic lethal FGFR2 mutation. Cutis marmorata telangiectatica congenita and reticular capillary nevus have previously been considered one single entity. Today, their dichotomy is proven at the molecular level. It is important to be aware of the new port-wine nevus of the AKT3 type because this anomaly may constitute a cutaneous marker of severe congenital brain defects. The newly described transient abdominal telangiectasia in newborns can easily be mistaken as a capillary nevus, but represents an innocuous neonatal phenomenon that spontaneously fades away within the first three months.

摘要

常染色体显性遗传伴性限制表现代表了一种先前未被认识的遗传模式。格罗斯汉斯白色雀斑样痣仅发生于女性,而男性基因携带者在临床上无表现,但可将潜在突变传递给其后代。还有其他一些例子:CELSR1型遗传性双侧淋巴水肿也仅发生于女性。与常见皮脂腺痣(HRAS或KRAS突变)不同,脑回状皮脂腺痣由合子后致死性FGFR2突变引起。先天性大理石样皮肤毛细血管扩张症和网状毛细血管痣以前被认为是同一实体。如今,它们在分子水平上的二分法已得到证实。认识到AKT3型新的葡萄酒色痣很重要,因为这种异常可能是严重先天性脑缺陷的皮肤标志物。新描述的新生儿短暂性腹部毛细血管扩张症很容易被误诊为毛细痣,但它是一种无害的新生儿现象,在出生后的头三个月内会自行消退。

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1
[Update on nevi and nevoid skin disorders].[痣及痣样皮肤疾病的最新进展]
Dermatologie (Heidelb). 2023 May;74(5):310-315. doi: 10.1007/s00105-023-05135-4. Epub 2023 Mar 17.
2
Cutis marmorata telangiectatica congenita being caused by postzygotic GNA11 mutations.先天性大理石样皮肤毛细血管扩张症是由合子后 GNA11 突变引起的。
Eur J Med Genet. 2022 May;65(5):104472. doi: 10.1016/j.ejmg.2022.104472. Epub 2022 Mar 26.
3
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Cutis marmorata telangiectatica congenita: a case report.先天性大理石样皮肤血管扩张症:一例报告
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Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.脑回状皮脂腺痣:一种器官样痣的亚型,由于特定的合子后 FGFR2 突变引起。
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Cutis marmorata telangiectatica congenita manifesting as port-wine stain at birth.先天性大理石样皮肤血管扩张症出生时表现为葡萄酒色斑。
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本文引用的文献

1
White lentiginosis of Grosshans: which mode of inheritance?格罗斯汉斯白色雀斑样痣:哪种遗传模式?
J Eur Acad Dermatol Venereol. 2022 Apr;36(4):e290-e291. doi: 10.1111/jdv.17878. Epub 2021 Dec 27.
2
Cutaneous vascular anomalies associated with a mosaic variant of AKT3: Genetic analysis continues to refine the diagnosis, nomenclature, and classification of vascular anomalies.与AKT3镶嵌变异相关的皮肤血管异常:基因分析不断完善血管异常的诊断、命名和分类。
J Am Acad Dermatol. 2022 Jul;87(1):162-164. doi: 10.1016/j.jaad.2021.06.877. Epub 2021 Jul 6.
3
Transient abdominal telangiectasia of the newborn.
新生儿一过性腹部毛细血管扩张症。
Pediatr Dermatol. 2021 Jul;38(4):864-867. doi: 10.1111/pde.14620. Epub 2021 Jun 21.
4
Cerebriform sebaceous nevus: a subtype of organoid nevus due to specific postzygotic FGFR2 mutations.脑回状皮脂腺痣:一种器官样痣的亚型,由于特定的合子后 FGFR2 突变引起。
J Eur Acad Dermatol Venereol. 2021 Oct;35(10):2085-2090. doi: 10.1111/jdv.17319. Epub 2021 May 22.
5
Sex-limited penetrance of lymphedema to females with CELSR1 haploinsufficiency: A second family.CELSR1 杂合性不足致女性淋巴水肿表现为性连锁不完全外显:第二家系。
Clin Genet. 2019 Nov;96(5):478-482. doi: 10.1111/cge.13622. Epub 2019 Aug 23.
6
Candidate genes associated with color morphs of female-limited polymorphisms of the damselfly Ischnura senegalensis.候选基因与雌性限性多态性的蜻蜓 Ischnura senegalensis 颜色型相关。
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7
Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly.AKT3基因的突变与多种发育障碍相关,包括极端巨头畸形。
Brain. 2017 Oct 1;140(10):2610-2622. doi: 10.1093/brain/awx203.
8
Advances in finding Alba: the locus affecting life history and color polymorphism in a Colias butterfly.寻找阿尔巴(Alba)的进展:影响菜粉蝶生活史和颜色多态性的基因座
J Evol Biol. 2017 Jan;30(1):26-39. doi: 10.1111/jeb.12967. Epub 2016 Sep 9.
9
Mosaic-activating FGFR2 mutation in two fetuses with papillomatous pedunculated sebaceous naevus.两例具乳头状蒂状皮脂腺痣的胎儿中存在马赛克激活型 FGFR2 突变。
Br J Dermatol. 2017 Jan;176(1):204-208. doi: 10.1111/bjd.14681. Epub 2016 Oct 2.
10
A novel mutation in CELSR1 is associated with hereditary lymphedema.CELSR1基因的一种新突变与遗传性淋巴水肿相关。
Vasc Cell. 2016 Feb 5;8:1. doi: 10.1186/s13221-016-0035-5. eCollection 2016.