British Journal of Dermatology 2006-Jan
Skin manifestations in a case of trisomy 16 mosaicism.
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Přihlášení Registrace
Odkaz je uložen do schránky
Klíčová slova
Abstraktní
We present a 48-year-old man with unilateral dermatological manifestations including hypertrichosis, telangiectasia, hyperkeratosis and hyperpigmentation. Additional findings included skeletal abnormalities and left-sided hearing loss. Skin biopsies showed changes characteristic of porokeratosis. Fibroblast karyotyping from affected skin demonstrated trisomy 16 mosaicism, in contrast to the normal karyotype in unaffected skin and blood lymphocytes. The possible role of trisomy 16 in porokeratosis is discussed.