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

Musumeci M.L. | Zendy; Fiorentini F. | Zendy; Bianchi L. | Zendy; Cascella R. | Zendy; Giardina E. | Zendy; Caputo V. | Zendy; Micali G. | Zendy

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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.

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