Pachyonychia Congenita Type PC-K6a: The first report in the Vietnamese population

Background: Pachyonychia congenita (PC) comprises a group of rare autosomal dominant genetic disorders. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratosis, and oral leukokeratosis. associated with mutations in five differentiationspecific keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The case being reported for its rarity. To the best our knowledge, this first report PC, from Vietnam, confirmed analysis.
 Case presentation: A four-year-old Vietnamese girl presented thickened leukokeratosis soon after birth. She was diagnosed onychomycosis chronic candidiasis treated systemic anti-fungals children's hospitals dermatology departments multiple times; however, no treatments were effective. In collaboration International Congenita Research Registry (IPCRR), clinical features consistent diagnosis PC type PC-K6a. testing, performed through IPCRR, shows K6a N171K mutation.
 Conclusions: IPCRR helps screen PC's confirm at molecular level, which beneficial crucial validating condition's impression.