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.
RESUMO
Cancers of the thyroid gland are uncommon, accounting for 1% of malignant tumors. Oncocytic carcinoma of the thyroid (OCA), previously known as "Hürthle cell" carcinomas, make up 3% to 5% of all thyroid cancers and are extremely rare. In the United States, the incidence of thyroid cancer is approximately 12 per 100,000 per year and increases with age. The prevalence of thyroid cancers in women is estimated to be twice that in men, with the male gender correlating with a worse prognosis. A definitive diagnosis of OCA is confirmed after complete excision and histopathological examination. OCA is an aggressive tumor with an exceedingly low incidence, a high risk of metastasis, and a poor prognosis. The mainstay of therapy for OCA is surgery. In order to recognize and treat the disease as early as possible, healthcare providers must consider the probability of OCA in patients presenting with a thyroid mass. We hereby present a case of OCA identified incidentally status post tracheostomy and subsequent biopsy. We have an opportunity to review this disease with the hope of improving outcomes by raising awareness and with early recognition.
