PACHYONYCHIA CONGENITA: A CASE REPORT

Abstract

Pachyonychia congenita (PC) is an ultra-rare genodermatosis of keratinization characterized by thickness of nails and palmar and plantaris hyperkeratosis. The oral alterations comprise oral leukokeratosis and cheilosis, so the dentist must identify them early and intervene. Our goal is to report a case of a 12-year-old girl with painful oral leukokeratosis in the tongue, absence of the 18th tooth, and mastication impairment, as well as hoarse voice, disseminated papules, total nails hyperkeratosis, andrecurrent upper airway infections (mouth breather). The genetic test showed KRT17 mutation, causing the substitution of leucine for proline and the production of defective keratin. Therapeutic options are: retinoids, dental and medical procedures, orthosis, keratolytics, analgesics, and gene therapy. Multidisciplinary follow-up is fundamental to the rehabilitation of the patients and challenges them and healthcare professionals. Pachyonychia congenita (PC) is an ultra-rare genodermatosis of keratinization characterized by thickness of nails and palmar and plantaris hyperkeratosis. The oral alterations comprise oral leukokeratosis and cheilosis, so the dentist must identify them early and intervene. Our goal is to report a case of a 12-year-old girl with painful oral leukokeratosis in the tongue, absence of the 18th tooth, and mastication impairment, as well as hoarse voice, disseminated papules, total nails hyperkeratosis, andrecurrent upper airway infections (mouth breather). The genetic test showed KRT17 mutation, causing the substitution of leucine for proline and the production of defective keratin. Therapeutic options are: retinoids, dental and medical procedures, orthosis, keratolytics, analgesics, and gene therapy. Multidisciplinary follow-up is fundamental to the rehabilitation of the patients and challenges them and healthcare professionals.