X-Linked Hypohidrotic Ectodermal Dysplasia (XLHED): A Case Report and Overview of the Diagnosis and Multidisciplinary Modality Treatments

Hypohidrotic ectodermal dysplasia (HED) is a rare genetic disorder caused by mutation in either the ectodysplasin (EDA), A receptor (EDAR), EDAR associated via death domain (EDARADD), or Wnt family member 10A (WNT10A) genes that result impaired development of ectodermal-derived structures. The literature defines two types dysplasia, which are hypohidrotic and hidrotic. X‐linked (XLHED), also known as Christ-Siemens-Touraine syndrome, most common form variant characterized classical triad hypo/adontia, hypohidrosis, hypotrichosis; whereas, hidrotic type Clouston onychodysplasia, hypotrichosis, palmoplantar hyperkeratosis while sparing sweat glands. Symptoms XLHED can begin early life between ages one month to 23 months. more commonly seen males due x-linked characteristics gene mutations. This disease be diagnosed physical exam alone, combination with molecular testing. specifically has an estimated occurrence every 20,000 newborns worldwide. Approximately 5,000 people United States have disease. In this case report, we present adult patient XLHED. Our objective emphasize significance diagnosis, advocate for multidisciplinary management approach, shed light on potential recombinant protein targeted therapy further research. By raising awareness condition, aim improve outcomes not only but adults who already been