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

M. L. Musumeci, F. Fiorentini, L. Bianchi, R. Cascella, E. Giardina, V. Caputo, G. Micali

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)36-39
Number of pages4
JournalJournal of the European Academy of Dermatology and Venereology : JEADV
Volume33
DOIs
Publication statusPublished - Oct 1 2019

ASJC Scopus subject areas

  • Dermatology
  • Infectious Diseases

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