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.

Musumeci, M.l., Fiorentini, F., Bianchi, L., Cascella, R., Giardina, E., Caputo, V., et al. (2019). Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 33(S6), 36-39 [10.1111/jdv.15851].

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

Bianchi L.;Cascella R.;Giardina E.;Caputo V.;
2019-01-01

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.
2019
Pubblicato
Rilevanza internazionale
Articolo
Esperti anonimi
Settore MED/35 - MALATTIE CUTANEE E VENEREE
English
Musumeci, M.l., Fiorentini, F., Bianchi, L., Cascella, R., Giardina, E., Caputo, V., et al. (2019). Follicular occlusion tetrad in a male patient with pachyonychia congenita: clinical and genetic analysis. JOURNAL OF THE EUROPEAN ACADEMY OF DERMATOLOGY AND VENEREOLOGY, 33(S6), 36-39 [10.1111/jdv.15851].
Musumeci, Ml; Fiorentini, F; Bianchi, L; Cascella, R; Giardina, E; Caputo, V; Micali, G
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/2108/221599
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