Oral manifestation of pachyonychia congenita type 1: Jadassohn lewandowsky syndrome

Pachyonychia congenital (PC), is a rare genetic disorder, autosomal dominant, disorder of keratinization. This condition is characterized by cutaneous manifestation mainly hyperkeratosis of skin and mucosae and hypertrophy of nails. In this condition, almost 50% of the patients will have oral leukokeratosis. The case report here is of a 15 years old girl, presented with dystrophic, thickened fingernails and toenails with subungual hyperkeratosis, palmoplantar keratoderma, hyperkeratotic plaques in buccal mucosae. Histological examination shows acanthosis, parakeratosis and ballooning of epithelial cells, these features were consistent leukokeratosis, and has been diagnosed as Pachyonychia Congenita type 1. This is a rare condition hence, has been reported.