Pachyonychia Congenita: Sporadic Onset With Mutation Analysis

The article discusses a case of Pachyonychia Congenita (PC), a rare genetic disorder affecting the skin and nails, in a 15-year-old boy with sporadic onset. The patient exhibited symptoms such as painful nodulopustules on the scalp with alopecia, inflammatory acne, and progressive nail dystrophy. Genetic testing identified a mutation in the keratin 17 gene (K17p.Leu95Pro), confirming the diagnosis of PC-K17. Despite various treatments, including systemic doxycycline and isotretinoin, the patient experienced only partial improvement. The article emphasizes the need for a national registry and genetic database in India to reduce reliance on international resources for diagnosing and managing rare diseases.