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A Journal on Dermatology

Journal of Istituto Dermatologico San Gallicano
Official Journal of the Associazione Dermatologi Ospedalieri Italiani - A.D.O.I.
Indexed/Abstracted in: EMBASE, Scopus



Esperienze Dermatologiche 2011 March;13(1):21-4


language: English, Italian

Pachyonychia congenita with only nail involment: report on three cases in siblings with health

Colasanti P., Cordedda M., Zanchini R., Spanò G., Maione F., Berruti V.,

Unità Operativa di Dermatologia, Presidio Ospedaliero “S. Gennaro”, Azienda Sanitaria Locale Napoli 1 Centro, Napoli


Pachyonychia congenital (PC) is a rare genodermatosis which is autosomal dominant in inheritance. Nail dystrophy, the most striking feature with thickened and pinched nails, can be associated with dyskeratoses of skin and mucous membranes. A mutation in four keratin genes (K6a, K6b, K16, and K17) lead to keratinocyte fragility and the resultant pachyonychia congenita phenotype. Successful targeted therapies are currently lacking for this oftentimes disabling disorder. We report three cases of PC without associated mucocutaneous disorders in a young woman and in two of her three brothers. Cutaneous examination showed subungual hyperkeratosis, distal elevation, thickening and increased transverse curvature of the nail plates in all the siblings. The changes, that affected all 20 nails, had developed during the second year of life. No other abnormality was detected on mucocutaneous examination in all cases. The parents, healthy and non-consanguineous, have not similar nail changes. On the basis of the typical onychodystrophy, absence of associated findings and history, a diagnosis of isolated PC was made clinically in the three cases of affected siblings. To our knowledge this represents the first report of isolated PC in siblings with healthy parents. We assume that gonadal mosaicism of one of the parent could be at the basis of the three reported cases of affected siblings born to healthy parents. In addition to gonadal mosaicism, an autosomal recessive transmission could also be suggested.

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