| Popis: |
Aims: Pachyonychia congenita is a rare genodermatosis related to mutations in the genes encoding keratins. Illustrations of such a typical case of this uncommon condition have rarely been seen in the literature, hence the interest of our case report. Case Report: An 11-year-old girl with a history of parental inbreeding presented with painful bilateral plantar hyperkeratosis associated with significant pachyonychia of the 20 nails and other clinical signs supporting the diagnosis of pachyonychia congenita. Discussion: Pachyonychia congenita is an autosomal dominant inherited dyskeratosis due to a mutation in the keratin genes k6a, k6b, k6c, k16 or k17. Clinical signs are dominated by pachonychia and painful palmoplantar keratoderma impacting patients' quality of life. The association with other disorders is possible. To date, treatment remains symptomatic. Conclusion: The diagnosis of congenital pachyonychia is based on the genetic study of the mutations involved. Nevertheless, a clinical presentation as suggestive as ours allows the immediate diagnosis, thus making this article interesting. |
