Clouston syndrome: first case in Russia

Area of Science:

• Genetics
• Dermatology
• Rare diseases

Background:

• Hidrotic ectodermal dysplasia type 2 (HED2), also known as Clouston syndrome, is an autosomal dominant disorder.
• It is characterized by a distinct triad of symptoms affecting skin and its appendages.

Observation:

• The study reports the first documented case of Clouston syndrome in Russia.
• The case involved a patient exhibiting the characteristic features of the syndrome.

Findings:

• Molecular genetic analysis was performed on the identified case.
• The analysis aimed to confirm the diagnosis and understand the genetic basis of Clouston syndrome in this patient.

Implications:

• This case expands the geographical understanding of Clouston syndrome distribution.
• Molecular genetic data from this case contributes to the broader knowledge base of HED2.