About Netherton Syndrome
Netherton Syndrome
Netherton Syndrome is a rare and severe genetic condition caused by mutations in the SPINK5 gene, leading to defects in the skin’s natural barrier. These mutations disrupt the production of LEKT1, a protein that regulates skin shedding, hair growth, and immune function.
In healthy skin, the balance between skin cell turnover and shedding is tightly regulated by serine proteases called kallikrein-related peptidases (KLK) and their inhibitor, LEKT1. In individuals with NS, a deficiency of LEKT1 leads to unregulated activity of KLK5, KLK7, and KLK14, causing uncontrolled skin shedding and severe skin barrier dysfunction.
This imbalance compromises the protective function of the skin, resulting in chronic inflammation, extreme sensitivity to allergens, recurring infections, and at times, skin cancer. The loss of the epidermal barrier also makes patients prone to severe dehydration and nutrient loss.
Netherton Syndrome Facts
Key Facts About Netherton Syndrome
Rare but Severe: Affects approximately 1 in 200,000 newborns globally, significantly impacting quality of life.
Hereditary: Passed down in an autosomal recessive pattern, requiring both parents to carry the defective gene.
Chronic and Lifelong: Symptoms usually appear at birth or early infancy and persist throughout a patient’s lifetime.
10-20% of newborns with Netherton Syndrome will not survive
Learn more about the biology of Netherton Syndrome and how QRX003 is designed to restore skin barrier function by targeting the underlying molecular imbalance.
Common Symptoms
Recognizing the Symptoms of Netherton Syndrome
Netherton Syndrome is more than a skin condition — it is a devastating disease that demands urgent medical attention and lifelong care. Early diagnosis and specialized treatment are critical to improving outcomes for affected individuals. This severe genetic disorder affects the skin, hair, and immune system, causing relentless symptoms that significantly impact health and quality of life.
- Persistent, inflamed skin with widespread peeling and scaling
- Continuous cycles of painful skin shedding
- High susceptibility to infections, irritation, and environmental triggers
- Brittle, fragile hair with a distinctive microscopic structure
- Frequent hair breakage and progressive hair loss
- Hypersensitivity to common environmental allergens
- Increased risk of life-threatening food allergies
- Severe eczema-like flare-ups causing intense itching and discomfort
- Excessive water loss leading to extreme dehydration
- Heightened vulnerability to bacterial and fungal infections
- Increased risk of systemic complications due to skin breakdown
- Persistent, widespread redness (erythroderma)
- Fragile, scaly skin that easily peels away
- Difficulty maintaining hydration and fighting infections
- Failure to thrive, with challenges in gaining weight and proper growth
Managing Netherton syndrome
Current Options for Managing Netherton Syndrome
There are currently no approved treatments or cures for Netherton Syndrome.
While moisturizers are commonly used, those containing lanolin or petrolatum may cause additional skin damage due to friction or high shear forces—particularly in highly compromised skin. Topical steroids can further thin the skin, potentially leading to complications like Cushing’s Syndrome. Other standard topical therapies, such as calcineurin inhibitors, can result in dangerously high systemic absorption when applied to defective skin.
A pressing need remains for safe, effective treatments that extend beyond symptomatic relief. Because no FDA-approved therapies exist for Netherton Syndrome, research continues in pursuit of novel solutions capable of addressing this devastating disease at its core.
Learn More About an Investigational Topical Treatment Options