PDF(Pubmed)
Abstract：
Anhidrotic ectodermal dysplasia (AED), or Christ-Siemens-Touraine syndrome, is an X-linked recessive dermatosis. Rare in incidence, it affects 1 in 100,000 births, mostly boys. Through this observation, we detail the clinical signs that led us to suspect the diagnosis, how this pathology was confirmed, and the therapeutic management we carried out. We present a case of a 10-month-old boy presenting with altered manifestations affecting almost all the ectodermal structures like skin, hair, nails, teeth, sebaceous glands, sweat glands, and tear glands. He also had complete anodontia and a dry mouth. A multidisciplinary treatment was given to the patient with the collaboration of various health professionals. Although Christ-Siemens-Touraine syndrome is a rare condition, it is vital to recognize it early to improve care and prognosis for these patients, while mitigating the psychological impact of the condition on both children and parents.
摘要：
无汗性外胚层发育不良（AED），或者Christ-Siemens-Touraine综合征,是X连锁隐性皮肤病.罕见的发病率，它影响了十万分之一的新生儿，主要是男孩。通过这个观察,我们详述了导致我们怀疑诊断的临床症状，这种病理是如何被证实的，以及我们进行的治疗管理。我们介绍了一个10个月大的男孩，其表现改变了几乎所有的外胚层结构，如皮肤，头发,指甲,牙齿,皮脂腺,汗腺,和泪腺。他也有完全的牙齿缺失和口干。在各种卫生专业人员的合作下，对患者进行了多学科治疗。尽管Christ-Siemens-Touraine综合征是一种罕见的疾病，尽早认识到这一点对改善这些患者的护理和预后至关重要，同时减轻病情对儿童和父母的心理影响。
