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

J Eur Acad Dermatol Venereol. 2019 Oct:33 Suppl 6:36-39. doi: 10.1111/jdv.15851.

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.

Publication types

  • Case Reports

MeSH terms

  • Acne Conglobata / diagnosis*
  • Cellulitis / diagnosis*
  • Hidradenitis Suppurativa / diagnosis*
  • Hidradenitis Suppurativa / genetics
  • Humans
  • Keratin-17 / genetics*
  • Male
  • Pachyonychia Congenita / diagnosis
  • Pachyonychia Congenita / genetics*
  • Pilonidal Sinus / diagnosis*
  • Scalp Dermatoses / diagnosis*
  • Skin Diseases, Genetic / diagnosis*
  • Syndrome
  • Young Adult

Substances

  • KRT17 protein, human
  • Keratin-17

Supplementary concepts

  • Perifolliculitis Capitis Abscedens Et Suffodiens, Familial