Netherton Syndrome
Description
Netherton Syndrome is a rare, inherited skin disorder characterized by ichthyosis (dry, scaly skin), hair abnormalities, and atopic dermatitis (eczema). It is caused by mutations in the SPINK5 gene, which plays a role in skin barrier function. This blog delves into the intricacies of Netherton Syndrome, providing comprehensive information on its causes, symptoms, diagnosis, management, and strategies for thriving.
Genes Involved
Genes Involved:
Netherton Syndrome is caused by mutations in the SPINK5 gene, located on chromosome 5. This gene provides instructions for making a protein called LEKTI. LEKTI is a key component of the skin barrier, helping to prevent moisture loss and protect against infections.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms:
- Ichthyosis: The most prominent feature is ichthyosis, with the skin appearing dry, scaly, and often thickened. This can be so severe that it resembles fish scales, hence the term "fish-scale disease."
- Hair Abnormalities: Hair may be brittle, thin, and sparse, often referred to as "woolly hair."
- Atopic Dermatitis: Intense itching and inflammation of the skin are common, often resembling severe eczema. The skin can be prone to infections.
- Other Symptoms: In some cases, Netherton Syndrome can be associated with growth delays, food allergies, and gastrointestinal problems.
Causes
Causes:
Netherton Syndrome is an inherited genetic disorder. It is passed down from parents to children through autosomal recessive inheritance. This means that both parents must carry the mutated SPINK5 gene for their child to inherit the condition. If both parents are carriers, each child has a 25% chance of inheriting the syndrome.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
- Autosomal Recessive Inheritance: Both parents must carry the mutated gene for their child to inherit the syndrome.
- Recurrence Risk: If both parents are carriers, each child has a 25% chance of inheriting Netherton Syndrome.
