RESUMO
Pachyonychia congenita (PC) is a rare genetic disorder which is inherited in an autosomal dominant pattern. We report a sporadic novel H1 mutation in the KRT6A gene (c. 428G>A/p. Ser143Asn) in a Chinese infant patient. The mutation is concurrent with a single-nucleotide polymorphism and resulted in a serine for asparagine substitution in H1 subdomain of KRT6A chain next to the rod domain. The infant showed the classic symptoms of pachyonychia congenita. Conclusion: The heterozygous missense mutation c. 428G > A/p.Ser143Asn in KRT6A exon 1 may cause severe disease
Assuntos
Feminino , Humanos , Lactente , Queratina-6/genética , Mutação/genética , Mutação de Sentido Incorreto/genética , Paquioníquia Congênita/epidemiologia , Paquioníquia Congênita/genéticaRESUMO
Pachyonychia congenita [PC] comprises a group of rare autosomal genodermatosis caused by mutation in any of the four genes KRT6A, KRT6B, KRT16 or KRT17. Classically, it is subdivided into two major variant types, PC-1 [Jadassohn-Lewandowski syndrome] and PC-2 [Jackson-Lawler syndrome]. We hereby report a case of 22-year-old, married woman with progressive thickening and discoloration of all 20 nails, multiple, hyperkeratotic lesions present all over the body with oral lesions since childhood. She had a 2-month-old male baby [the only child] who presented with similar lesions of yellowish discoloration and nail thickening of both nails and foot since birth. She was diagnosed as PC type 1
Assuntos
Adulto Jovem , Paquioníquia Congênita/patologia , Paquioníquia Congênita/genética , Ceratodermia Palmar e PlantarRESUMO
Pachyonychia congenita is a rare hereditary disorder characterized by gross thickening of all finger and toenails. We report an infant who had clinical features consistent with pachyonychia congenita type II, with unusual features of microcephaly, seizures, electroencephalogram abnormalities, failure to thrive, and heterochromia iridis.