Vitiligo in a Patient With Kabuki Syndrome: Case Study and Review of the Literature

被引：0

作者：

Gage, Karli ^{[1
]}

Weissman, Amanda S. ^{[2
]}

McBride, Jeffrey ^{[2
]}

机构：

[1] OU TU Sch Community Med, Dept Dermatol, Tulsa, OK 74135 USA

[2] Univ Oklahoma Hlth Sci Ctr, Dept Dermatol, Oklahoma City, OK USA

来源：

CUREUS JOURNAL OF MEDICAL SCIENCE | 2023年 / 15卷 / 01期

关键词：

janus kinase inhibitors; vitiligo; autoimmune disease; child; genetic diseases;

D O I：

10.7759/cureus.34143

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

Kabuki Syndrome (KS) is a rare genetic disorder characterized by dysmorphic facial features, skeletal anomalies, dermatoglyphic abnormalities, intellectual disability, and short stature. Autoimmune disease can be seen more frequently in this patient population. Vitiligo is an autoimmune disease that is uncommonly reported in patients with KS. This report describes a case of vitiligo manifesting in a patient with KS and discusses the use of Janus kinase inhibitors as treatment.

引用

页数：12

共 21 条

[1] Kabuki syndrome: international consensus diagnostic criteria [J].

Adam, Margaret P. ;

Banka, Siddharth ;

Bjornsson, Hans T. ;

Bodamer, Olaf ;

Chudley, Albert E. ;

Harris, Jaqueline ;

Kawame, Hiroshi ;

Lanpher, Brendan C. ;

Lindsley, Andrew W. ;

Merla, Giuseppe ;

Miyake, Noriko ;

Okamoto, Nobuhiko ;

Stumpel, Constanze T. ;

Niikawa, Norio .

JOURNAL OF MEDICAL GENETICS, 2019, 56 (02) :89-95

[2] Carcinogenic risks of Psoralen UV-A therapy and Narrowband UV-B therapy in chronic plaque psoriasis: a systematic literature review [J].

Archier, E. ;

Devaux, S. ;

Castela, E. ;

Gallini, A. ;

Aubin, F. ;

Le Maitre, M. ;

Aractingi, S. ;

Bachelez, H. ;

Cribier, B. ;

Joly, P. ;

Jullien, D. ;

Misery, L. ;

Paul, C. ;

Ortonne, J-P ;

Richard, M-A .

JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 2012, 26 :22-31

[3] Systemic lupus erythematosus: A new autoimmune disorder in Kabuki syndrome [J].

Arsov, Todor ;

Sestan, Mario ;

Cekada, Nastasia ;

Frkovic, Marijan ;

Andrews, Dan ;

He, Yuke ;

Shen, Nan ;

Vinuesa, Carola G. ;

Jelusic, Marija .

EUROPEAN JOURNAL OF MEDICAL GENETICS, 2019, 62 (06)

[4] Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature [J].

Di Candia, Francesca ;

Fontana, Paolo ;

Paglia, Pamela ;

Falco, Mariateresa ;

Rosano, Carmen ;

Piscopo, Carmelo ;

Cappuccio, Gerarda ;

Siano, Maria Anna ;

De Brasi, Daniele ;

Mandato, Claudia ;

De Maggio, Ilaria ;

Squeo, Gabriella Maria ;

Della Monica, Matteo ;

Scarano, Gioacchino ;

Lonardo, Fortunato ;

Strisciuglio, Pietro ;

Merla, Giuseppe ;

Melis, Daniela .

EUROPEAN JOURNAL OF PEDIATRICS, 2022, 181 (01) :171-187

[5]

Ewart-Toland A, 1998, AM J MED GENET, V80, P362, DOI 10.1002/(SICI)1096-8628(19981204)80:4<362::AID-AJMG11>3.0.CO

[6]

2-W

[7] Vitiligo: Mechanisms of Pathogenesis and Treatment [J].

Frisoli, Michael L. ;

Essien, Kingsley ;

Harris, John E. .

ANNUAL REVIEW OF IMMUNOLOGY, VOL 38, 2020, 38 :621-648

[8] Atypical findings in Kabuki syndrome:: Report of 8 patients in a series of 20 and review of the literature [J].

Geneviève, D ;

Amiel, J ;

Viot, G ;

Le Merrer, M ;

Sanlaville, D ;

Urtizberea, A ;

Gérard, M ;

Munnich, A ;

Cormier-Daire, V ;

Lyonnet, S .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2004, 129A (01) :64-68

[9] Coexistence of Kabuki Syndrome and Autoimmune Thyroiditis [J].

Gurbuz, Fatih ;

Yuregir, Ozge Ozalp ;

Ceylaner, Serdar ;

Topaloglu, Ali Kemal ;

Yuksel, Bilgin .

JOURNAL OF CLINICAL RESEARCH IN PEDIATRIC ENDOCRINOLOGY, 2016, 8 (01) :105-106

[10]

Lexi-Drugs, 2022, US

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