Netherton syndrome synonyms

Netherton syndrome, also known as Comèl-Netherton syndrome or Netherton-Come syndrome, is a rare genetic disorder that primarily affects the skin, hair, and immune system. It is characterized by a triad of symptoms including ichthyosis, trichorrhexis invaginata, and atopic diathesis.

Ichthyosis, the most prominent feature of Netherton syndrome, refers to the presence of dry, scaly skin. The affected individuals often have a red, inflamed appearance due to the skin's impaired barrier function. This can lead to increased susceptibility to infections and allergies.

Trichorrhexis invaginata, also known as "bamboo hair," is a distinctive hair abnormality seen in Netherton syndrome. The hair shafts have a characteristic "ball and socket" appearance, making them fragile and prone to breakage. This can result in sparse, brittle hair that is difficult to manage.

Atopic diathesis refers to a predisposition to develop allergic conditions such as asthma, eczema, and food allergies. Individuals with Netherton syndrome often experience severe and persistent itching, leading to scratching and subsequent skin damage.

Other associated features of Netherton syndrome may include failure to thrive, short stature, recurrent infections, and impaired immune function. The severity of symptoms can vary widely among affected individuals, even within the same family.

Diagnosis of Netherton syndrome is typically based on clinical presentation, family history, and genetic testing. There is currently no cure for this condition, and treatment mainly focuses on managing the symptoms and preventing complications. This may involve the use of emollients, topical corticosteroids, antihistamines, and antibiotics.

Due to its rarity, Netherton syndrome can pose significant challenges for affected individuals and their families. Supportive care, regular monitoring, and early intervention are crucial in optimizing the quality of life for those living with this condition.