Short answer · Medically reviewed summary · Last updated: 2026-05-08
Pachyonychia Congenita is classified under the ICD-10-CM code Q84.5 (Enlarged and hypertrophic nails) and the ICD-9-CM code 757.39 (Other specified congenital anomalies of skin). While these codes are used for billing and administrative tracking, they serve as broad categories for a group of rare genetic disorders characterized primarily by hypertrophic nail dystrophy and painful palmoplantar keratoderma. What is the clinical presentation of Pachyonychia Congenita? Pachyonychia Congenita is a rare autosomal dominant keratin disorder.
ICD10 code of Pachyonychia Congenita and ICD9 code
ICD-10 and ICD-9 codes for Pachyonychia Congenita, with classification details for clinicians, coders and patients.
Pachyonychia Congenita is classified under the ICD-10-CM code Q84.5 (Enlarged and hypertrophic nails) and the ICD-9-CM code 757.39 (Other specified congenital anomalies of skin). While these codes are used for billing and administrative tracking, they serve as broad categories for a group of rare genetic disorders characterized primarily by hypertrophic nail dystrophy and painful palmoplantar keratoderma.
What is the clinical presentation of Pachyonychia Congenita?
Pachyonychia Congenita is a rare autosomal dominant keratin disorder. The condition is clinically defined by the thickening of the nails (onychodysplasia) and focal palmoplantar keratoderma, which often causes extreme pain when walking. Patients with Pachyonychia Congenita may also experience oral leukokeratosis, follicular hyperkeratosis, and, in some variants, the development of painful epidermal cysts.
How is Pachyonychia Congenita classified genetically?
Pachyonychia Congenita is caused by mutations in one of five specific keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. Because it follows an autosomal dominant inheritance pattern, a person with Pachyonychia Congenita has a 50% chance of passing the mutation to each offspring. Genetic counseling is highly recommended for families navigating the inheritance risks associated with this condition.
What are the primary management goals for patients?
Management of Pachyonychia Congenita focuses on symptom relief and improving quality of life, as there is currently no curative therapy. Clinical approaches typically include:
- Mechanical debridement: Regular trimming and thinning of thickened nails by a podiatrist or dermatologist.
- Pain management: Specialized footwear and orthotics to mitigate the pain caused by palmoplantar keratoderma.
- Topical therapies: Use of keratolytics (such as urea or salicylic acid) to soften hyperkeratotic skin.
- Monitoring: Regular dermatological exams to manage secondary infections or painful cysts.
At DiseaseMaps.org, 4 community members currently share their experiences with Pachyonychia Congenita, providing a vital space for peer support and shared coping strategies.
Next steps
- Consult a dermatologist or clinical geneticist familiar with Pachyonychia Congenita to confirm your diagnosis via genetic testing.
- Register with the Pachyonychia Congenita Project (PC Project) to access patient registries and specialized research updates.
- Connect with the 4 community members on DiseaseMaps.org to share management tips and emotional support.
Medical disclaimer: This information is for educational purposes only and does not constitute medical advice; always consult with a qualified healthcare professional regarding your specific diagnosis and treatment plan.
References
- NIH Genetic and Rare Diseases Information Center (GARD): Pachyonychia Congenita
- Orphanet: Pachyonychia Congenita (ORPHA:670)
- OMIM (Online Mendelian Inheritance in Man): Entry #167200
- PC Project (Pachyonychia Congenita Project): pachyonychia.org
