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