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家族性角化异常性黑头粉刺:一例报告及文献综述

Familial Dyskeratotic Comedones: A Case Report and Literature Review.

作者信息

Tejapira Kasama, Suchonwanit Poonkiat

机构信息

Division of Dermatology, Department of Medicine, Faculty of Medicine, Ramathibodi Hospital, Mahidol University, Bangkok, Thailand.

出版信息

Clin Cosmet Investig Dermatol. 2023 Jul 3;16:1729-1735. doi: 10.2147/CCID.S420723. eCollection 2023.

Abstract

Familial dyskeratotic comedones (FDC) is an autosomal dominant inherited skin disorder characterized by generalized multiple discrete comedone-like hyperkeratotic papules. The disease demonstrates a distinct histopathologic feature of dyskeratosis of the crater-like invaginated epidermis or follicle-like structures with or without acantholysis. Despite its asymptomatic and benign course, the condition is refractory to treatment. Herein, we report a case of a 54-year-old female presenting with progressively developed generalized multiple hyperkeratotic papules with central keratin plugs on the trunk and extremities for 20 years. A definite diagnosis was made by clinical manifestations and histopathological examination. The lesions were slightly improved after 3 months of topical retinoids and urea cream treatments. Besides, we first describe dermoscopic findings of FDC and reviewed 21 previously reported FDC cases from 11 families in the literature.

摘要

家族性角化不良性粉刺(FDC)是一种常染色体显性遗传性皮肤病,其特征为全身性多发性离散性粉刺样角化过度丘疹。该疾病表现出独特的组织病理学特征,即杯状凹陷的表皮或毛囊样结构的角化不良,伴或不伴棘层松解。尽管其病程无症状且为良性,但该病症治疗困难。在此,我们报告一例54岁女性,其躯干和四肢逐渐出现全身性多发性角化过度丘疹,中央有角质栓,病程20年。通过临床表现和组织病理学检查做出明确诊断。外用维甲酸和尿素霜治疗3个月后,皮损稍有改善。此外,我们首次描述了FDC的皮肤镜表现,并回顾了文献中11个家族先前报道的21例FDC病例。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/08dd/10328097/811259b86478/CCID-16-1729-g0001.jpg

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1
Alopecia Areata: An Autoimmune Disease of Multiple Players.
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2
Topical finasteride for the treatment of male androgenetic alopecia and female pattern hair loss: a review of the current literature.
J Dermatolog Treat. 2022 Mar;33(2):643-648. doi: 10.1080/09546634.2020.1782324. Epub 2020 Jun 26.
3
Darier's Disease: Report of a Case with Facial Involvement.
Case Rep Dermatol. 2019 Dec 10;11(3):327-333. doi: 10.1159/000504925. eCollection 2019 Sep-Dec.
4
Familial Dyskeratotic Comedones.
Skinmed. 2018 Jul 1;16(4):273-274. eCollection 2018.
5
Alopecia in Association with Malignancy: A Review.
Am J Clin Dermatol. 2018 Dec;19(6):853-865. doi: 10.1007/s40257-018-0378-1.
6
Familial dyskeratotic comedones: A rare entity.
Indian Dermatol Online J. 2016 Jan-Feb;7(1):46-8. doi: 10.4103/2229-5178.174308.
7
Nevus comedonicus: a case series.
Pediatr Dermatol. 2015 Mar-Apr;32(2):216-9. doi: 10.1111/pde.12466. Epub 2014 Dec 29.
8
Disseminated congenital comedones.
Pediatr Dermatol. 2011 Jan-Feb;28(1):58-9. doi: 10.1111/j.1525-1470.2010.01358.x. Epub 2011 Jan 25.
9
Familial dyskeratotic comedones.
Indian J Dermatol Venereol Leprol. 2008 Mar-Apr;74(2):142-4. doi: 10.4103/0378-6323.39700.
10
[Familial dyskeratotic comedone].
Ann Dermatol Venereol. 2004 Aug-Sep;131(8-9):811-3. doi: 10.1016/s0151-9638(04)93766-0.

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