Atrichia With Papular Lesions Confirmed via Genetic Testing: A Case Report

被引：0
|
作者：
Boisen, Julie [1 ]
Lewis, Jade [2 ]
Hendrick, Sophia J. [1 ]
机构：
[1] Baylor Scott & White Hlth, Dermatology, Temple, TX 76508 USA
[2] US Navy, Gen Med, Jacksonville, FL USA
来源：
CUREUS JOURNAL OF MEDICAL SCIENCE | 2022年 / 14卷 / 12期
关键词：
pediatric alopecia; hairless gene; pediatric hair loss; alopecia; atrichia with papular lesions; MUTATIONS;
D O I：
10.7759/cureus.32562
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Atrichia with papular lesions (APL) is a rare form of alopecia characterized by the diffuse, complete, irreversible loss of hair shortly after birth and the presence of diffuse keratotic papules and milia-like cysts. Multiple hairless gene (HR) mutations on the zinc finger domain of chromosome 8p12 have been associated with this disorder. We present the case of a 5-year-old girl with classic clinical findings of APL, with a diagnosis confirmed via genetic testing.
引用
收藏
页数：4
相关论文
共 50 条
  • [21] Atrichia with Papular Lesions: Importance of Histology at an Early Disease Stage
    Rocha, Vanessa B.
    Michalany, Nilceo
    Valente, Neusa Y. S.
    Pereira, Luciana B.
    Donati, Aline
    SKIN APPENDAGE DISORDERS, 2018, 4 (03) : 129 - 130
  • [22] Identification of five novel hairless mutations underlying atrichia with papular lesions
    Masse, M
    Ashoor, G
    Michailidis, E
    Greenstein, RM
    Paradisi, M
    Pedicelli, C
    Theos, A
    Martinez-Mir, A
    Zlotogorski, A
    Christiano, AM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2005, 124 (04) : A104 - A104
  • [23] Identification of mutations in the hairless gene in Pakistani families with Atrichia and papular lesions
    Kobayashi, Y.
    Kurban, M.
    Wajid, M.
    Shimomura, Y.
    Christiano, A.
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2009, 129 : S104 - S104
  • [24] Compound heterozygosity for mutations in the hairless gene causes atrichia with papular lesions
    Indelman, M
    Bergman, R
    Lestringant, GG
    Peer, G
    Sprecher, E
    BRITISH JOURNAL OF DERMATOLOGY, 2003, 148 (03) : 553 - 557
  • [25] Compound heterozygous mutations in the hairless gene underlie atrichia with papular lesions
    Zlotogorski, A
    Ben-Amitai, D
    Metzker, A
    Martinez-Mir, A
    Christiano, AM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2002, 119 (01) : 290 - 290
  • [26] Ornithine decarboxylase transgenic mice as a model for human atrichia with papular lesions
    Panteleyev, AA
    Christiano, AM
    O'Brien, TG
    Sundberg, JP
    EXPERIMENTAL DERMATOLOGY, 2000, 9 (02) : 146 - 151
  • [27] Congenital atrichia with papular lesions: a rare cause of irreversible childhood alopecia
    Arif, Tasleem
    Adil, Mohammad
    Amin, Syed Suhail
    ACTA DERMATOVENEROLOGICA ALPINA PANNONICA ET ADRIATICA, 2018, 27 (01): : 35 - 36
  • [28] CONGENITAL ATRIQUIA WITH PAPULAR LESIONS: A CASE REPORT
    Figueredo Lapi, Victor
    Torrealba Fajardo, Maria
    Estrada, Pedro
    SALUD ARTE Y CUIDADO, 2012, 5 (01): : 87 - 89
  • [29] Atrichia with papular lesions: A report of three novel human hairless gene mutations and a revision of diagnostic criteria
    Yip, Leona
    Horev, Liran
    Sinclair, Rodney
    Zlotogorski, Abraham
    ACTA DERMATO-VENEREOLOGICA, 2008, 88 (04) : 346 - 349
  • [30] Identification of a recurrent frameshift mutation in the hairless gene in a patient with atrichia with papular lesions
    Lam, H
    Martinez-Mir, A
    Zlotogorski, A
    Geraghty, M
    Christiano, AM
    JOURNAL OF INVESTIGATIVE DERMATOLOGY, 2004, 122 (03) : A90 - A90
12345