The case of a 24-year-old male patient affected by follicular occlusion tetrad (acne conglobata, hidradenitis suppurativa, pilonidal cyst and dissecting cellulitis of the scalp) associated with clinical signs of pachyonychia congenita (PC)-2 (focal palmoplantar keratoderma, plantar pain, onycodystrophy and multiple cysts) is reported. The diagnosis was supported by genetic analysis that showed heterozygous mutation within the exon 1 of KRT17 gene. This case may reflect different expressions of a phenotypic spectrum induced by a common genetic alteration.
|Titolo:||Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis|
|Data di pubblicazione:||2019|
|Appare nelle tipologie:||1.1 Articolo in rivista|