Abstract
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. It is associated with mutations in five differentiationspecific keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17. The case is being reported for its rarity. To the best of our knowledge, this is the first report of PC, from Vietnam, confirmed by genetic analysis.
 Case presentation: A four-year-old Vietnamese girl presented with a thickened nail and oral leukokeratosis soon after birth. She was diagnosed with onychomycosis and chronic oral candidiasis and was treated with systemic anti-fungals in children's hospitals and dermatology departments multiple times; however, no treatments were effective. In collaboration with the International Pachyonychia Congenita Research Registry (IPCRR), the clinical features were consistent with a diagnosis of PC type PC-K6a. The genetic testing, performed through the IPCRR, shows a K6a N171K mutation.
 Conclusions: The IPCRR helps screen PC's clinical features and confirm a diagnosis at the molecular level, which is beneficial and crucial for validating the condition's clinical impression.
Highlights
Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization
Pachyonychia Congenita is a rare autosomal dominant keratin disorder caused by mutations in any of the five keratin genes: KRT6A, KRT6B, KRT6C, KRT16, or KRT17 6
Because of a significant phenotype overlap between cases previously classified as PC types 1 and 2, a new classification divided PC into four subtypes based on the specific keratin defect [1,6,7] and later into five subtypes
Summary
Pachyonychia congenita (PC) is a rare autosomal dominant disorder of keratinization. It is characterized by hypertrophic nail dystrophy, follicular hyperkeratosis, painful plantar and palmar keratoderma, oral leukokeratosis, epidermal cysts, natal teeth, and hoarseness 1. It is characterized by hypertrophic nail dystrophy, focal palmoplantar keratoderma, follicular keratosis, and oral leukokeratosis. In collaboration with the International Pachyonychia Congenita Research Registry (IPCRR), the clinical features were consistent with a diagnosis of PC type PC-K6a. The genetic testing, performed through the IPCRR, shows a K6a N171K mutation.
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