Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis.

M L MusumeciF FiorentiniL BianchiR CascellaE GiardinaV CaputoGiuseppe Micali

Published in: Journal of the European Academy of Dermatology and Venereology : JEADV (2020)

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.

Keyphrases

hidradenitis suppurativa
case report
genome wide
chronic pain
copy number
pain management
early onset
gene expression
spinal cord
transcription factor