Ichthyosis, Netherton syndrome

Netherton syndrome
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Synonyms	Ichthyosis linearis circumflexa, Comel-Netherton syndrome
Pronounce	N/A
Specialty	N/A
Symptoms	Red, scaly skin, hair abnormalities, immune system issues
Complications	N/A
Onset	Infancy
Duration	Lifelong
Types	N/A
Causes	Genetic mutation in the SPINK5 gene
Risks	N/A
Diagnosis	Clinical evaluation, genetic testing
Differential diagnosis	N/A
Prevention	N/A
Treatment	Symptomatic management, skin care, infection prevention
Medication	N/A
Prognosis	N/A
Frequency	Rare
Deaths	N/A

Netherton syndrome is a rare genetic disorder that affects the skin, hair, and immune system. It is classified as a form of ichthyosis, a group of disorders characterized by dry, scaly skin. Netherton syndrome is caused by mutations in the SPINK5 gene, which encodes the protein LEKTI (lympho-epithelial Kazal-type-related inhibitor). This protein plays a crucial role in skin barrier function and immune regulation.

Clinical Features

Netherton syndrome is typically evident at birth or in early infancy. The hallmark features include:

• Ichthyosis linearis circumflexa: This is characterized by red, scaly patches on the skin with a distinctive double-edged scale. The skin may appear inflamed and is prone to infections.
• Trichorrhexis invaginata: Also known as "bamboo hair," this is a hair shaft abnormality where the hair is fragile and breaks easily. It is a diagnostic feature of Netherton syndrome.
• Atopic diathesis: Patients often have a predisposition to atopic dermatitis, food allergies, asthma, and hay fever.

Pathophysiology

The SPINK5 gene mutation leads to a deficiency of the LEKTI protein, which results in unregulated activity of skin proteases. This disrupts the skin barrier, leading to increased water loss and vulnerability to irritants and allergens. The compromised barrier function also facilitates the entry of pathogens, contributing to recurrent skin infections.

Diagnosis

Diagnosis of Netherton syndrome is based on clinical evaluation and confirmed by genetic testing. The presence of trichorrhexis invaginata can be identified through microscopic examination of hair samples. Genetic testing can identify mutations in the SPINK5 gene.

Management

There is no cure for Netherton syndrome, and management focuses on symptomatic relief and prevention of complications:

• Skin care: Regular use of emollients and moisturizers to maintain skin hydration.
• Infection control: Prompt treatment of skin infections with appropriate antibiotics.
• Allergy management: Avoidance of known allergens and use of antihistamines to control allergic symptoms.
• Nutritional support: Ensuring adequate nutrition, as patients may have increased caloric needs due to skin loss.

Prognosis

The prognosis for individuals with Netherton syndrome varies. While the condition is lifelong, the severity of symptoms can fluctuate. With appropriate management, many individuals can lead relatively normal lives, although they may require ongoing medical care.

Also see

• Ichthyosis
• Atopic dermatitis
• Genetic disorders
• Dermatology

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