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Abstract：
X-linked hypohidrotic ectodermal dysplasia (XLHED) is caused by pathogenic variants of the gene EDA disrupting the prenatal development of ectodermal derivatives. Cardinal symptoms are hypotrichosis, lack of teeth, and hypo- or anhidrosis, but the disease may also evoke other clinical problems. This study aimed at investigating the clinical course of XLHED in early childhood as the basis for an evaluation of the efficacy of potential treatments.
25 children (19 boys and 6 girls between 11 and 35 months of age) with genetically confirmed XLHED were enrolled in a long-term natural history study. Clinical data were collected both retrospectively using parent questionnaires and medical records (pregnancy, birth, infancy) and prospectively until the age of 60 months. General development, dentition, sweating ability, ocular, respiratory, and skin involvement were assessed by standardized clinical examination and yearly quantitative surveys.
All male subjects suffered from persistent anhidrosis and heat intolerance, although a few sweat ducts were detected in some patients. Sweating ability of girls with XLHED ranged from strongly reduced to almost normal. In the male subjects, 1-12 deciduous teeth erupted and 0-8 tooth germs of the permanent dentition became detectable. Tooth numbers were higher but variable in the female group. Most affected boys had no more than three if any Meibomian glands per eyelid, most girls had fewer than 10. Many male subjects developed additional, sometimes severe health issues, such as obstructive airway conditions, chronic eczema, or dry eye disease. Adverse events included various XLHED-related infections, unexplained fever, allergic reactions, and retardation of psychomotor development.
This first comprehensive study of the course of XLHED confirmed the early involvement of multiple organs, pointing to the need of early therapeutic intervention.
25 children (19 boys and 6 girls between 11 and 35 months of age) with genetically confirmed XLHED were enrolled in a long-term natural history study. Clinical data were collected both retrospectively using parent questionnaires and medical records (pregnancy, birth, infancy) and prospectively until the age of 60 months. General development, dentition, sweating ability, ocular, respiratory, and skin involvement were assessed by standardized clinical examination and yearly quantitative surveys.
All male subjects suffered from persistent anhidrosis and heat intolerance, although a few sweat ducts were detected in some patients. Sweating ability of girls with XLHED ranged from strongly reduced to almost normal. In the male subjects, 1-12 deciduous teeth erupted and 0-8 tooth germs of the permanent dentition became detectable. Tooth numbers were higher but variable in the female group. Most affected boys had no more than three if any Meibomian glands per eyelid, most girls had fewer than 10. Many male subjects developed additional, sometimes severe health issues, such as obstructive airway conditions, chronic eczema, or dry eye disease. Adverse events included various XLHED-related infections, unexplained fever, allergic reactions, and retardation of psychomotor development.
This first comprehensive study of the course of XLHED confirmed the early involvement of multiple organs, pointing to the need of early therapeutic intervention.
摘要：
X连锁多汗性外胚层发育不良（XLHED）是由EDA基因的致病变体破坏外胚层衍生物的产前发育引起的。主要症状是毛发减少,缺少牙齿,以及下汗症或无汗症，但这种疾病也可能引起其他临床问题。这项研究旨在调查XLHED在儿童早期的临床过程，作为评估潜在治疗效果的基础。
25名儿童（19名男孩和6名女孩，年龄在11至35个月之间）被遗传证实为XLHED，被纳入长期自然史研究。使用父母问卷和医疗记录（怀孕，出生,婴儿期)和前瞻性直到60个月的年龄。一般发展,牙列,出汗能力,眼,呼吸,和皮肤受累通过标准化临床检查和年度定量调查进行评估.
所有男性受试者都患有持续性无汗症和热不耐受，尽管在一些患者中发现了一些汗管。XLHED女孩的出汗能力从严重降低到几乎正常不等。在男性受试者中，1-12颗乳牙萌出，并且可以检测到永久性牙列的0-8颗牙胚。牙齿数量较高，但在女性组中是可变的。大多数受影响的男孩每个眼睑不超过三个睑板腺，如果有的话，大多数女孩都不到10岁。许多男性受试者发展了额外的，有时严重的健康问题，如阻塞性气道疾病，慢性湿疹,或干眼症。不良事件包括各种XLHED相关感染，不明原因的发烧,过敏反应,精神运动发育迟缓。
这项关于XLHED课程的首次综合研究证实了多器官的早期受累，指出需要早期治疗干预。
25名儿童（19名男孩和6名女孩，年龄在11至35个月之间）被遗传证实为XLHED，被纳入长期自然史研究。使用父母问卷和医疗记录（怀孕，出生,婴儿期)和前瞻性直到60个月的年龄。一般发展,牙列,出汗能力,眼,呼吸,和皮肤受累通过标准化临床检查和年度定量调查进行评估.
所有男性受试者都患有持续性无汗症和热不耐受，尽管在一些患者中发现了一些汗管。XLHED女孩的出汗能力从严重降低到几乎正常不等。在男性受试者中，1-12颗乳牙萌出，并且可以检测到永久性牙列的0-8颗牙胚。牙齿数量较高，但在女性组中是可变的。大多数受影响的男孩每个眼睑不超过三个睑板腺，如果有的话，大多数女孩都不到10岁。许多男性受试者发展了额外的，有时严重的健康问题，如阻塞性气道疾病，慢性湿疹,或干眼症。不良事件包括各种XLHED相关感染，不明原因的发烧,过敏反应,精神运动发育迟缓。
这项关于XLHED课程的首次综合研究证实了多器官的早期受累，指出需要早期治疗干预。
