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先天性无毛症伴丘疹性皮损:1例罕见病例报告,皮肤镜检查显示“星簇状外观”

Atrichia Congenita with Papular Lesions: A Report of Rare Case Showing "Cluster of Stars' Appearance on Dermoscopy".

作者信息

Sarojadevi Hayyal Shobha, Nair Veena Ullas, Kudligi Chandramohan, Patil Meghana, Basavaraju Jayashree, Gopinathan Navya Kalappurakkal

机构信息

Department of Dermatology Venereology and Leprology, Karnataka Institute of Medical Sciences, Hubballi, Karnataka, India.

出版信息

Int J Trichology. 2025 Jan-Feb;17(1):80-83. doi: 10.4103/ijt.ijt_36_22. Epub 2025 Jun 23.

Abstract

Atrichia congenita with papular lesions (APL) is a rare autosomal recessive form of alopecia with multiple keratin cysts. A 12-year-old boy with generalized alopecia who was unsuccessfully treated with multiple topical and systemic medications was brought to our department. Thorough history, examination and investigations confirmed the diagnosis of APL as the patient fulfilled the proposed criteria required to diagnose the condition. He also had a distinct previously observed dermoscopic clue "Cluster of Stars" appearance. The present case is reported to familiarize the clinician about this rare entity which not only helps in making proper diagnosis but also avoid unnecessary treatment as it mimics many similar conditions such as alopecia universalis, Vitamin D dependent rickets, and ectodermal dysplasia.

摘要

先天性秃发伴丘疹性损害(APL)是一种罕见的常染色体隐性遗传性脱发,伴有多个角质囊肿。一名12岁的全身脱发男孩,曾接受多种局部和全身药物治疗但效果不佳,遂被送至我科。通过详细的病史、检查和调查,确诊该患者为APL,因为他符合诊断该病所需的既定标准。他还具有先前观察到的独特皮肤镜线索——“星簇”外观。报道本病例是为了让临床医生熟悉这种罕见疾病,这不仅有助于做出正确诊断,还能避免不必要的治疗,因为它可模仿许多类似疾病,如全秃、维生素D依赖性佝偻病和外胚层发育不良。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/9624/12252010/a9da054879b6/IJT-17-80-g001.jpg

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