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结节性脆发症与竹节状发共存:一个叙利亚家庭毛发干异常的病例报告

Coexisting trichorrhexis nodosa and pili annulati: a case report of hair shaft abnormalities in a Syrian family.

作者信息

Roumi Jamal Bakri, Breim Fatima, Zakour Joud, Marachli Besher, Abubakir Malaka, Abdul Rahman Noura, Ishkhanian Silva

机构信息

Faculty of Medicine, University of Aleppo.

Department of Dermatology and Venereology, Aleppo University Hospital, University of Aleppo, Aleppo, Syrian Arab Republic.

出版信息

Ann Med Surg (Lond). 2024 Jun 20;86(8):4887-4890. doi: 10.1097/MS9.0000000000002295. eCollection 2024 Aug.

DOI:10.1097/MS9.0000000000002295
PMID:39118738
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC11305761/
Abstract

INTRODUCTION

Pili annulati (PA) and trichorrhexis nodosa (TN) are rare genetic hair disorders. PA presents with sparkly, spotted hair due to air-filled cavities in the cortex, mainly affecting the scalp. TN causes brittle, breakable hair shafts, often due to physical or chemical damage.

CASE PRESENTATION

A 23-year-old Syrian woman presented with glistening, brittle hair and whitish nodules since puberty, reminiscent of TN. Trichoscopy confirmed TN alongside PA, displaying characteristic dark-light bands. Interestingly, TN breakage occurred within the PA bands. Her aunt displayed similar TN patterns. Microscopy revealed ring-like structures and a 'thrust paint brush' appearance, indicative of TN, within PA-affected regions. Management included avoidance of hair treatments and prescription of vitamins and minoxidil to enhance hair strength and density.

DISCUSSION

PA is usually congenital and autosomal dominant, often without causing hair fragility. However, some cases report fragility, particularly in light bands. While PA is typically benign, its combination with TN underscores the complexity of hair shaft disorders. Only five such cases exist. Proposed causes for PA and TN include genetic factors and hair shaft abnormalities. PA's fragility may stem from band stiffness differences and lower cysteine content. Treatment is typically unnecessary, but avoiding excessive heat styling is advised.

CONCLUSION

This case highlights the rare co-occurrence of PA and TN, emphasizing the need for further research into their relationship and potential systemic associations. Understanding the underlying mechanisms is crucial for informing treatment and counseling patients effectively, especially considering the rarity of this association.

摘要

引言

结节性脆发症(TN)和竹节状发(PA)是罕见的遗传性毛发疾病。PA表现为皮质中存在充满空气的空洞,导致头发出现闪亮的斑点,主要影响头皮。TN导致毛发干易脆、易折断,通常是由物理或化学损伤引起。

病例介绍

一名23岁的叙利亚女性自青春期以来出现头发闪亮、易脆以及白色小结节,让人联想到TN。毛发镜检查证实同时存在TN和PA,显示出特征性的明暗带。有趣的是,TN的折断发生在PA带内。她的姑姑有类似的TN表现。显微镜检查发现在PA受累区域内有环状结构和“刷毛状”外观,提示为TN。治疗措施包括避免头发护理,并开具维生素和米诺地尔处方以增强头发强度和密度。

讨论

PA通常是先天性的且为常染色体显性遗传,通常不会导致毛发脆弱。然而,一些病例报告有毛发脆弱的情况,尤其是在亮带处。虽然PA通常是良性的,但它与TN的合并存在凸显了毛发干疾病的复杂性。此类病例仅有五例。PA和TN的可能病因包括遗传因素和毛发干异常。PA的脆弱性可能源于带的硬度差异和较低的半胱氨酸含量。通常无需治疗,但建议避免过度热造型。

结论

本病例突出了PA和TN罕见的同时出现,强调需要进一步研究它们之间的关系以及潜在的全身关联。了解潜在机制对于指导治疗和有效咨询患者至关重要,特别是考虑到这种关联的罕见性。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/bdc8e124f84d/ms9-86-4887-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/954bfdab6d60/ms9-86-4887-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/dcabf7c2814f/ms9-86-4887-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/05a12e13fbe4/ms9-86-4887-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/bdc8e124f84d/ms9-86-4887-g004.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/954bfdab6d60/ms9-86-4887-g001.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/dcabf7c2814f/ms9-86-4887-g002.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/05a12e13fbe4/ms9-86-4887-g003.jpg
https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9397/11305761/bdc8e124f84d/ms9-86-4887-g004.jpg

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Pili Annulati with Severe Trichorrhexis Nodosa: A Case Report and Review of the Literature.伴有严重结节性脆发症的环状发:一例报告并文献复习
Skin Appendage Disord. 2019 Feb;5(2):114-116. doi: 10.1159/000491910. Epub 2018 Jul 23.
3
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Pili annulati coincident with alopecia areata, autoimmune thyroid disease, and primary IgA deficiency: case report and considerations on the literature.伴有斑秃、自身免疫性甲状腺疾病和原发性IgA缺乏症的环状毛发:病例报告及文献综述
Case Rep Dermatol. 2012 Sep;4(3):250-5. doi: 10.1159/000345469. Epub 2012 Sep 14.
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Trichorrhexis nodosa revisited.结节性脆发症再探讨。
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