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克里斯蒂 - 西门子 - 图赖讷综合征:一例罕见儿科病例报告。

Christ-Siemens-Touraine Syndrome: A Report of a Rare Pediatric Case.

作者信息

Bouhmidi Massilia, Boudarbala Hajar, Elouali Aziza, Babakhouya Abdeladim, Maria Rkain, Benajiba Noufissa

机构信息

Pediatrics, Mohammed VI University Hospital Center, Oujda, MAR.

Pediatric Medicine, Mohammed VI University Hospital, Faculty of Medicine and Pharmacy, Mohammed I University, Oujda, MAR.

出版信息

Cureus. 2024 May 10;16(5):e60022. doi: 10.7759/cureus.60022. eCollection 2024 May.

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),即克里斯 - 西门子 - 图赖讷综合征,是一种X连锁隐性皮肤病。发病率很低,每10万例出生中约有1例受影响,主要为男孩。通过本病例观察,我们详细阐述了导致我们怀疑该诊断的临床体征、该病理如何得以确诊以及我们所采取的治疗管理措施。我们报告一例10个月大男孩,其临床表现几乎累及所有外胚层结构,如皮肤、毛发、指甲、牙齿、皮脂腺、汗腺和泪腺。他还完全无牙且口干。在多名健康专业人员的协作下,对该患者进行了多学科治疗。尽管克里斯 - 西门子 - 图赖讷综合征是一种罕见疾病,但早期识别对于改善这些患者的护理和预后至关重要,同时可减轻该疾病对儿童及其父母的心理影响。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/c71a/11162553/c60212df518e/cureus-0016-00000060022-i01.jpg

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