Netherton Syndrome Epidemiology

DelveInsight’s ‘Netherton Syndrome – Epidemiology Forecast – 2034’ report delivers an in-depth understanding of Netherton Syndrome, historical and forecasted epidemiology, as well as the trends in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.

Geographies Covered

• The United States
• EU4 (Germany, France, Italy, and Spain) and the United Kingdom
• Japan

Study Period: 2021-2034

Netherton Syndrome Understanding

Netherton syndrome is a rare and severe genetic autosomal recessive disorder of ichthyosis, often present at birth or in the first few weeks of life, where the skin is red with fine dry scales. The condition lasts for a lifetime, but the severity can vary from person to person.

It occurs due to loss of function mutations in the serine peptidase inhibitor Kazal type 5 (SPINK5) gene that encodes lymphoepithelial Kazal-type-related inhibitor (LEKTI). LEKTI is crucial in regulating certain enzymes responsible for skin barrier function. Additionally, LEKTI inhibits kallikrein-related peptidases, such as KLK7, and the epidermal elastase 2 (ELA2) that are reported to play major roles in Netherton syndrome pathology.

Netherton syndrome can be identified by ichthyosiform (scaly) erythroderma, a unique hair shaft defect known as trichorrhexis invaginata, and atopic symptoms. They often include symptoms such as failure to thrive, susceptibility to infections, reddish skin, and high body temperature.

Newborns affected with Netherton syndrome are classically presented with congenital IE (generalized redness and scaling of the skin), with variable intensity and extension. Hair, eyebrows, and eyelashes can be absent at birth and grow slowly or are present and subsequently become abnormal.

The neonatal period is critical with high morbidity and life-threatening complications, including hypernatremic dehydration due to a severe skin barrier defect, hypothermia, recurrent skin, respiratory tract, systemic infections, and gastrointestinal symptoms, including abdominal pain, vomiting, and diarrhea. Furthermore, Netherton syndrome patients can also develop papillomatous skin lesions, particularly in the groin, perineal and genito-anal regions. Squamous cell carcinomas of the skin have also been reported in a few cases of adult Netherton syndrome patients.

Netherton Syndrome Diagnosis

The diagnosis of Netherton syndrome is based on clinical features, family history, and genetic testing to identify mutations in the SPINK5 gene. Other types of testing, such as a close examination of the hair and a skin biopsy to obtain a small skin sample for examination under the microscope, can also be helpful for diagnosis.

As hair shaft defect is not always present even in severe Netherton syndrome patients, the diagnosis is routinely confirmed by histology and molecular analyses. The histological examination of a skin biopsy shows marked epidermal hyperplasia with elongated and enlarged rete ridges, stratum corneum detachment, lack of or reduced granular layer, and variable cell infiltrates in the papillary dermis. Additionally, Netherton syndrome is diagnosed based on the symptoms and confirmed by genetic testing for changes in the SPINK5 gene. Identifying a germline SPINK5 mutation by DNA sequencing supports the diagnosis; however, the cost of performing DNA sequencing analysis limits its use in the diagnosis.

Often babies or children are not diagnosed for months or even years as red skin at birth can be a symptom of other conditions, such as other types of ichthyosis, severe eczema, or other forms of immune deficiency. Thus, differential diagnosis plays an important role.

Continued in the report…..

Netherton Syndrome Epidemiology Perspective by DelveInsight

The disease epidemiology covered in the report provides historical as well as forecasted epidemiology segmented by diagnosed prevalent cases of Netherton syndrome and gender-specific cases of Netherton syndrome in the 7MM covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan from 2021 to 2034.

Netherton Syndrome Detailed Epidemiology Segmentation

• In 2022, there were approximately 3,454 diagnosed prevalent cases of Netherton Syndrome in the 7MM. The US accounted for nearly 49% of the total diagnosed prevalent cases of Netherton Syndrome in the 7MM.
• In the US, approximately 45% of the diagnosed prevalent cases of Netherton Syndrome were male, while 55% were females in 2022. This is expected to increase by 2034.
• Among EU4 and the UK, Germany accounted for the highest diagnosed prevalent cases of Netherton syndrome, around 422 cases, while Spain had the least cases of Netherton Syndrome (236) in 2022.
• In EU4 and the UK, females diagnosed with Netherton Syndrome are higher in number than males. In 2022, the cases of Netherton Syndrome among males in EU4 and the UK were reported to be approximately 685, while there were around 959 cases among the female population. These cases are expected to rise during the forecast period (2025-2034).
• In 2022, among the 7MM, Japan had the least cases, accounting for nearly 4% of the diagnosed prevalent cases of Netherton Syndrome. The cases are estimated to decrease during the forecast period.
• In Japan, females diagnosed with Netherton Syndrome are higher in number than males. In 2022, there were approximately 53 male cases, while around 71 cases were among the female population.

Scope of the Report

• The report covers a descriptive overview of Netherton syndrome, explaining its symptoms, pathophysiology, and various diagnostic approaches.
• The report provides insight into the 7MM historical and forecasted patient pool covering the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan.
• The report assesses the disease risk and burden of Netherton syndrome.
• The report helps recognize the growth opportunities in the 7MM concerning the patient population.
• The report provides the segmentation of the disease epidemiology for the 7MM, the total diagnosed prevalent cases of Netherton syndrome, and the gender-specific cases of Netherton syndrome.

Report Highlights

• Ten years forecast of Netherton Syndrome
• The 7MM Coverage
• Diagnosed Prevalent Cases of Netherton Syndrome
• Gender-specific Cases of Netherton Syndrome

Key Questions Answered

• What are the disease risk and burdens of Netherton Syndrome?
• What is the historical Netherton Syndrome patient pool in the United States, EU4 (Germany, France, Italy, and Spain) and the United Kingdom, and Japan?
• What would be the forecasted patient pool of Netherton Syndrome at the 7MM level?
• What growth opportunities will be across the 7MM concerning the patient population with Netherton Syndrome?
• Which country would have the highest diagnosed prevalent population of Netherton Syndrome among the countries mentioned above during the forecast period (2025-2034)?
• At what CAGR is the population expected to grow across the 7MM forecast period (2025-2034)?

Reasons to Buy

The Netherton Syndrome report will allow the user to:

• Develop business strategies by understanding the trends shaping and driving the 7MM Netherton Syndrome epidemiology forecast.
• The Netherton Syndrome epidemiology report and model were written and developed by Masters and PhD level epidemiologists.
• The Netherton Syndrome epidemiology model developed by DelveInsight is easy to navigate, interactive with a dashboard, and epidemiology based on transparent and consistent methodologies. Moreover, the model supports the data presented in the report and showcases disease trends over the 10-year forecast period using reputable sources.

Key Assessments

• Patient Segmentation
• Disease Risk and Burden
• Risk of Disease by the Segmentation
• Factors Driving Growth in a Specific Patient Population