Phenotype and genotype features of Vietnamese children with pachyonychia congenita

• Published in: Pediatrics and neonatology Vol. 64; no. 4; pp. 405 - 410
• Main Authors: Chu, Ha Thi, Dinh Duong, Tung Anh, Le, Doanh Huu, Le, Thieu Van, Nguyen, Binh Bui, Dang, Chuc Van, Vu, Quang Van
• Format: Journal Article
• Language: English
• Published: Elsevier B.V 01-07-2023; Elsevier
• Subjects: follicular papules; leukokeratosis; nail dystrophy; pachyonychia congenita; PC; follicular papules; pachyonychia congenita; IPCRR; leukokeratosis; nail dystrophy
• ISSN: 1875-9572
• DOI: 10.1016/j.pedneo.2022.09.018

Pachyonychia congenita (PC) is a group of autosomal dominant disorders caused by mutations in one of five keratin genes (KRT6A, KRT6B, KRT6C, KRT16, or KRT17). PC is an extremely rare condition. To our knowledge, this is the largest genotype–phenotype study of PC in a Vietnamese population to date.
We investigated keratin gene mutations and clinical features of seven Vietnamese children with PC.
The seven Vietnamese patients were from six different families (two patients in the same family) from across Northern, Central, and Southern Vietnam. All children displayed PC symptoms before 1 year of age, but diagnosis was delayed in 4/7 patients. Thick fingernails, thick toenails, oral leukokeratosis, and follicular hyperkeratosis were the most common features recorded by all seven patients. Plantar keratoderma and thick fingernails were the clinical features associated with the most significant effect on daily function. All patients had mutations in KRT6A (PC–K6a) focused on the 1A and 2B domains. We found three distinct types of mutations (K6a R466P, K6a N171K, and K6a N172del). One mutation (N172del) was common to 5/7 (71.4%) of the patients.
Individuals displaying nail dystrophy, oral leukokeratosis, follicular hyperkeratosis, and plantar keratoderma should be referred for genetic testing given the high likelihood of a PC-K6a-related mutation in patients with this constellation of clinical signs.