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

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Pachyonychia Congenita
Hidradenitis Suppurativa
Pilonidal Sinus
Cysts
Exons
Pain
Mutation
Genes
Familial Perifolliculitis Capitis Abscedens Et Suffodiens
Acne Conglobata
Hyperkeratosis of the palms and soles and esophageal papillomas

ASJC Scopus subject areas

  • Dermatology
  • Infectious Diseases

Cite this

Follicular occlusion tetrad in a male patient with pachyonychia congenita : clinical and genetic analysis. / Musumeci, M. L.; Fiorentini, F.; Bianchi, L.; Cascella, R.; Giardina, E.; Caputo, V.; Micali, G.

In: Journal of the European Academy of Dermatology and Venereology : JEADV, Vol. 33, 01.10.2019, p. 36-39.

Research output: Contribution to journalArticle

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