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 | |
Autori interni: | ||
Data di pubblicazione: | 2019 | |
Rivista: | ||
Handle: | http://hdl.handle.net/20.500.11769/375188 | |
Appare nelle tipologie: | 1.1 Articolo in rivista |
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