Short Anagen Hair Syndrome and Its Association With WNT10A Gene Variants: A Report of Three Pediatric Cases.

IF 1.2 4区 医学 Q3 DERMATOLOGY
Nelly Marlene Román Mendoza, Magdalini Louka, Sergio García-González, Nelmar-Valentina Ortiz-Cabrera, Barbara Fernández Garoz, Lucero Noguera-Morel, Ángela Hernández-Martín
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引用次数: 0

Abstract

Short anagen hair syndrome (SAHS) is a rare hair disorder characterized by a shortened anagen phase, limiting hair growth to a few centimeters. SAHS is a benign condition often improving after puberty, with diagnosis supported by clinical, trichological, and genetic findings. We report three pediatric cases of persistently short hair, all with negative hair pull tests and trichogram findings revealing club-shaped roots, tapering, and hair shaft diameter variability. Genetic testing identified the c.682 T>A;p.(Phe228Ile) variant in heterozygosity in the WNT10A gene in two patients, a variant reported as a risk factor for the condition.

短毛生长综合征及其与WNT10A基因变异的关系:三例儿科病例报告
毛发生长短综合征(SAHS)是一种罕见的头发疾病,其特征是毛发生长期缩短,将头发生长限制在几厘米内。SAHS是一种良性疾病,通常在青春期后好转,临床、毛色学和遗传学结果支持其诊断。我们报告了三例持续短发的儿科病例,所有病例的毛发拉扯试验均为阴性,毛谱结果显示棍棒状根、变细和毛轴直径变化。基因检测在两名患者的WNT10A基因杂合性中发现了c.682 T bbb10a;p.(Phe228Ile)变异,这种变异被报道为该疾病的危险因素。
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来源期刊
Pediatric Dermatology
Pediatric Dermatology 医学-皮肤病学
CiteScore
3.20
自引率
6.70%
发文量
269
审稿时长
1 months
期刊介绍: Pediatric Dermatology answers the need for new ideas and strategies for today''s pediatrician or dermatologist. As a teaching vehicle, the Journal is still unsurpassed and it will continue to present the latest on topics such as hemangiomas, atopic dermatitis, rare and unusual presentations of childhood diseases, neonatal medicine, and therapeutic advances. As important progress is made in any area involving infants and children, Pediatric Dermatology is there to publish the findings.
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