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Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis
Author(s) -
Musumeci M.L.,
Fiorentini F.,
Bianchi L.,
Cascella R.,
Giardina E.,
Caputo V.,
Micali G.
Publication year - 2019
Publication title -
journal of the european academy of dermatology and venereology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.655
H-Index - 107
eISSN - 1468-3083
pISSN - 0926-9959
DOI - 10.1111/jdv.15851
Subject(s) - medicine , hidradenitis suppurativa , dermatology , apocrine , follicular cyst , pathology , cyst , disease
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 KRT 17 gene. This case may reflect different expressions of a phenotypic spectrum induced by a common genetic alteration.