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Report Overview

Pachyonychia congenita lacks reliable country-level epidemiology, with cases underreported and often misdiagnosed, underscoring the need for improved registries and broader genetic testing to clarify its true population burden. The pachyonychia congenita (PC) epidemiology forecast by Expert Market Research, approximately 70–80% of all confirmed PC cases are caused by mutations in two genes, KRT6A and KRT16.

2025

Base Year

2019-2025

Historical Period

2026-2035

Forecast Period

Pachyonychia Congenita (PC) – Number of Cases by Year

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Pachyonychia Congenita (PC) Epidemiology Forecast Report Coverage

Expert Market Research's “Pachyonychia Congenita (PC) Epidemiology Forecast Report 2026-2035” offers comprehensive information on the prevalence and demographics of pachyonychia congenita (PC). It projects the future incidence and prevalence rates of pachyonychia congenita (PC) cases across various populations. The study covers age, gender, and type as major determinants of the pachyonychia congenita (PC) population. The report highlights patterns in the prevalence of pachyonychia congenita (PC) over time and projects future trends based on multiple variables.

The report provides a comprehensive overview of the disease, as well as historical and projected data on pachyonychia congenita (PC)a epidemiology in the 8 major markets.

Regions Covered

  • The United States
  • Germany
  • France
  • Italy
  • Spain
  • The United Kingdom
  • Japan
  • India

Pachyonychia Congenita (PC) Understanding: Disease Overview

Pachyonychia congenita is a rare hereditary keratin disorder characterized by nail thickening, painful palmoplantar keratoderma, cysts, and oral leukokeratosis. It results from dominant mutations in keratin genes such as KRT6A, KRT6B, KRT6C, KRT16, and KRT17. Symptoms often begin in childhood and cause significant functional limitation due to severe plantar pain. Although not life-threatening, PC greatly affects mobility, daily activities, and emotional well-being. The clinical presentation varies by genotype, but progressive keratinization and recurrent infections remain common. Early diagnosis supports targeted symptom management and genetic counseling.

Pachyonychia Congenita (PC) Epidemiology Perspective

The pachyonychia congenita (PC) epidemiology division offers information on the patient pool from history to the present, as well as the projected trend for each of the 8 major markets. Expert Market Research provides both current and predicted trends for the pachyonychia congenita (PC) epidemiology scenario by examining a wide range of studies. Additionally, the report covers the diagnosed patient pool for pachyonychia congenita (PC) and its trends. The pachyonychia congenita (PC) detailed epidemiology segmentation is broken down into specific categories, such as total prevalent cases in males and females, and total diagnosed cases across different age groups and patient pools.

  • Pachyonychia congenita is an ultra-rare disorder, with prevalence estimated at under 1 per 1,000,000 individuals worldwide and perhaps 5,000-10,000 cases globally, highlighting its rarity and the need for improved recognition and reporting.
  • The International Pachyonychia Congenita Research Registry (IPCRR), the largest source of molecular-verified cases, has enrolled over 1,000 patients from more than 40 countries, and this remains the cornerstone epidemiologic dataset.
  • Registry demographics indicate no significant racial or ethnic clustering, Europe and North America together make up roughly 60–70% of reported cases.
  • Age-at-diagnosis statistics highlight the challenges in PC epidemiology. Nearly 50% of patients receive a clinical or genetic diagnosis before the age of 10, largely because severe nail abnormalities appear early in childhood. However, about 20–25% of individuals are not diagnosed until adolescence or adulthood, and approximately 10% only receive genetic confirmation after decades of symptoms.
  • The clinical burden of PC further influences epidemiologic detection. Around 95% of patients exhibit significant toenail changes by the end of infancy, while 85–90% develop painful plantar keratoderma affecting ambulation. This extremely high penetrance means that, despite being rare, PC is almost always symptomatic.

Pachyonychia Congenita (PC) – Number of Cases by Country

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Country-wise Pachyonychia Congenita (PC) Epidemiology Segment

The pachyonychia congenita (PC) epidemiology data and findings for the United States, Germany, Spain, Italy, France, the United Kingdom, Japan, and India are also provided in the epidemiology section.

The epidemiology of pachyonychia congenita (PC) across individual countries remains challenging to quantify due to the absence of robust, population-based surveillance systems. As an ultra-rare genetic keratin disorder, PC is often underdiagnosed or misclassified, limiting the availability of reliable country-specific incidence or prevalence estimates. Existing information is largely derived from registries and small clinical cohorts, which do not reflect true national burdens. Registry demographics indicate no significant racial or ethnic clustering: Europe and North America together make up roughly 60–70% of reported cases, Asia accounts for 15–20%, and the remaining cases are distributed across South America, the Middle East, and Africa. These proportions reflect global access to genetic testing rather than true disease distribution, implying that prevalence in lower-resource regions is likely undercounted.

Pachyonychia Congenita (PC): Treatment Overview

Treatment for pachyonychia congenita focuses on managing pain, reducing keratoderma, and preventing secondary infections. Current care includes keratolytics, topical retinoids, urea-based formulations, and mechanical paring. Pain control and footwear modifications significantly improve mobility. Oral retinoids may reduce hyperkeratosis but can worsen discomfort. Cyst management includes drainage and infection control. Gene-based therapies targeting specific keratin mutations, including siRNA approaches, are under investigation but not yet approved. Multidisciplinary support, dermatology, podiatry, physical therapy, helps optimize functional outcomes and quality of life.

Key Questions Answered

  • What are the key findings of pachyonychia congenita (PC) epidemiology in the 8 major markets?
  • What will be the total number of patients with pachyonychia congenita (PC) across the 8 major markets during the forecast period?
  • What was the country-wise pachyonychia congenita (PC) epidemiology scenario in the 8 major markets in the historical period?
  • Which country will have the highest number of cases of pachyonychia congenita (PC) during the forecast period of 2026-2035?
  • Which key factors would influence the shift in the patient population of pachyonychia congenita (PC) during the forecast period of 2026-2035?
  • What are the currently available treatments for pachyonychia congenita (PC)?
  • What are the disease risks, signs, symptoms, and unmet needs of pachyonychia congenita (PC)?

Scope of the Pachyonychia Congenita (PC) Epidemiology Report

  • The report covers a detailed analysis of signs and symptoms, causes, risk factors, pathophysiology, diagnosis, treatment options, and classification/types of pachyonychia congenita (PC) based on several factors.
  • Pachyonychia Congenita (PC) Epidemiology Forecast Report covers data for the eight major markets (the US, France, Germany, Italy, Spain, the UK, Japan, and India).
  • The pachyonychia congenita (PC) report helps to identify the patient population, and the unmet needs are highlighted along with an assessment of the disease's risk and burden.

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Please note that the figures mentioned in the description serve as estimates and may vary from the actual figures presented in the final report.

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Base Year 

2025

Historical Period

2019-2025

Forecast Period

2026-2035

Epidemiology Statistics Provided

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  • Type-Specific Cases
  • Gender-Specific Cases
  • Age-Specific Cases

Segmentation Provided

  • Epidemiology by Age Group
  • Epidemiology by Gender
  • Epidemiology by Type of Disease
  • Epidemiology by Region

Geographies Covered 

  • United States
  • Germany
  • Italy
  • France
  • Spain
  • United Kingdom
  • Japan
  • India

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