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痤疮综合征与嵌合体现象。

Acne Syndromes and Mosaicism.

作者信息

Baroud Sumer, Wu Jim, Zouboulis Christos C

机构信息

Departments of Dermatology, Venereology, Allergology, and Immunology, Dessau Medical Center, Brandenburg Medical School Theodor Fontane and Faculty of Health Sciences Brandenburg, 06847 Dessau, Germany.

College of Medicine, University of Sharjah, Sharjah P.O. Box 27272, United Arab Emirates.

出版信息

Biomedicines. 2021 Nov 21;9(11):1735. doi: 10.3390/biomedicines9111735.

Abstract

Abnormal mosaicism is the coexistence of cells with at least two genotypes, by the time of birth, in an individual derived from a single zygote, which leads to a disease phenotype. Somatic mosaicism can be further categorized into segmental mosaicism and nonsegmental somatic mosaicism. Acne is a chronic illness characterized by inflammatory changes around and in the pilosebaceous units, commonly due to hormone- and inflammatory signaling-mediated factors. Several systemic disorders, such as congenital adrenal hyperplasia, polycystic ovarian syndrome, and seborrhoea-acne-hirsutism-androgenetic alopecia syndrome have classically been associated with acne. Autoinflammatory syndromes, including PAPA, PASH, PAPASH, PsAPASH, PsaPSASH, PASS, and SAPHO syndromes include acneiform lesions as a key manifestation. Mosaic germline mutations in the gene have been associated with Apert syndrome and nevus comedonicus, two illnesses that are accompanied by acneiform lesions. In this review, we summarize the concept of cutaneous mosaicism and elaborate on acne syndromes, as well as acneiform mosaicism.

摘要

异常嵌合体是指在出生时,源自单个受精卵的个体中存在至少两种基因型的细胞,这会导致疾病表型。体细胞嵌合体可进一步分为节段性嵌合体和非节段性体细胞嵌合体。痤疮是一种慢性疾病,其特征是毛囊皮脂腺单位周围和内部发生炎症变化,通常由激素和炎症信号介导的因素引起。几种全身性疾病,如先天性肾上腺皮质增生症、多囊卵巢综合征以及脂溢性皮炎 - 痤疮 - 多毛症 - 雄激素性脱发综合征,传统上都与痤疮有关。自身炎症性综合征,包括PAPA、PASH、PAPASH、PsAPASH、PsaPSASH、PASS和SAPHO综合征,都将痤疮样皮损作为关键表现。该基因中的镶嵌种系突变与Apert综合征和黑头粉刺痣有关,这两种疾病都伴有痤疮样皮损。在本综述中,我们总结了皮肤嵌合体的概念,并详细阐述了痤疮综合征以及痤疮样嵌合体。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/49f8/8615598/31d34df78a89/biomedicines-09-01735-g001.jpg

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