Pachyonychia Congenita: Clinical and Pathological Case Report

Introduction: Pachyonychia congenita (PC) is a very rare genetic condition triggered by mutations in one of five genes that encode for keratin. It is usually characterized by nail dystrophy and painful palmoplantar keratomas, as well as oral leukokeratosis, natal/prenatal teeth, and sebaceous cysts. This case details PC in an adult, to include the management of the patient and clinicopathologic characteristics of the disorder. Case Description: A 78-year-old male patient with a known history of pachyonychia congenita presented with clinical findings of xerostomia, coated tongue, abnormal bilateral white lesions, and hyper-keratinization on the lateral borders of the tongue and buccal mucosa. Biopsy was obtained and pathological investigation was performed to rule out pre-cancerous lesions or other pathological conditions that may be related to the patient's symptoms. Practical Implications: This report describes the management of PC in an older adult patient, and reviews pertinent literature on the lesion. There is no cure for this chronic disorder, and treatment is focused on alleviating painful symptoms. Improving the quality of life is imperative for patients with this debilitating disease.