Prevalence and genetic-phenotype relationship of pachyonychia congenita in children

Abstract

Objective: determine the incidence of Pachyonychia Congenita at the National Hospital of Dermatology and Venereology and International Green Hospital. Describe the relationship between phenotype and genotype of the above patients. Subjects: patients were diagnosed with Pachyonychia Congenita. Method: cross-sectional description.

Results: The rate of children with Pachyonychia Congenita compared to the number of children visiting the 2 hospitals was 0.04%, compared to the number of children with nail pathology was 0.64% and compared to the number of children with thick nails and/or nail dystrophy was 2.13%. Patients with oral leukokeratosis, painful palmoplantar keratoderma, multiple nail thickening lesions, and follicular keratoses are often due to KRT6A mutations. Patients with few nail thickened may suggest mutations in the 2B domain. Patients with thick nails and natal teeth are often due to KRT17 mutations. Conclusion: There were 8 patients with Pachyonychia Congenita, the rate of this disease was 2.13%. There is a correlation between phenotype and genotype in this disease. Recommendation: Patients with early hypertrophic nail dystrophy (<1 year old) need to have a genetic diagnosis, based on the correlation between phenotype and genotype to select the mutation that needs to be screened first.