Pachyonychia Congenita

Excerpt

A 5-y-old boy born at term to non-consanguineous parents presented with hoarseness of voice and thickened nails of all fingers and toes since birth. He had blisters and calluses on the soles of his feet that caused painful walking and weight bearing. Physical examination revealed all 20 nails were thickened and curved, focal plantar keratoderma and blisters, oral leukokeratosis, and follicular papules over the knees and buttocks (Fig. 1). KOH mounts of toenails and fingernails were negative for fungal elements. Genomic DNA was extracted from his peripheral blood. A reported heterozygous missense likely-pathogenic variant (Ex7:c.1403T>C/p.L468P) was identified in KRT6A by exome sequencing, confirming the diagnosis of pachyonychia congenita (PC). …