Sunil Kumar Gupta, Deepika, Monika, Khushman Singh.
Jadassohn-Lewandowsky syndrome: a rare genodermatosis.
J Pak Assoc Derma Jan ;26(4):389-91.

Pachyonychia congenita (PC) is a rare type of genodermatosis characterized by palmoplantar keratoderma, subungual hyperkeratosis, and oral mucosal leukokeratoses along with other features like hyperkeratotic follicular papules, hyperhidrosis of palms and soles, and hair abnormalities. It is caused by mutations in keratin genes KRT6a, KRT6b, KRT6c, KRT16, KRT17. We report a 12-year-old female patient presenting with thickened, discolored nails, palmoplantar keratoderma, and follicular papules all over the body.

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