Albeik Muhammad T M N, Abdullah Lava, Almatroud Muhammad M
Department of Dermatology and Venereology.
Department of Obstetrics and Gynecology, Police Hospital, Damascus, Syria.
Ann Med Surg (Lond). 2023 Feb 17;85(3):519-522. doi: 10.1097/MS9.0000000000000240. eCollection 2023 Mar.
Hypohidrotic ectodermal dysplasia (HED) is a rare heterogeneous genetic congenital disorder affecting at least 1 in 5000-10,000 newborns. This disorder has a wide range of clinical manifestations; it affects organs originating from the embryonic ectoderm.
We present a case of a 2-year-old boy diagnosed with HED, the boy was suffering from absence of sweating since birth, dry skin, recurrent episodes of hyperpyrexia, sparse and light-colored hair on the scalp, absent eyebrows, and delayed eruption of abnormally shaped teeth.
The are no diagnostic criteria guidelines for HED, we diagnosed the disorder by the clinical manifestations and the family history. The management of patients with HED is palliative.
This disorder needs multidisciplinary contribution to improve the general health of those patients, quality of life, and decrease morbidity and mortality.
少汗型外胚层发育不良（HED）是一种罕见的遗传性先天性疾病，具有异质性，在每5000 - 10000名新生儿中至少有1例受影响。这种疾病有广泛的临床表现；它影响起源于胚胎外胚层的器官。
我们报告一例2岁男孩被诊断为HED，该男孩自出生以来就不出汗、皮肤干燥、反复高热、头皮毛发稀疏且浅色、眉毛缺失以及异形牙齿萌出延迟。
目前尚无HED的诊断标准指南，我们通过临床表现和家族史诊断了该疾病。HED患者的治疗是姑息性的。
这种疾病需要多学科协作以改善患者的总体健康状况、生活质量并降低发病率和死亡率。
