JLE

European Journal of Dermatology

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Hermansky-Pudlak syndrome Volume 11, numéro 4, July - August 2001

Auteurs
Department of Dermatology, Philipp University, Deutschhausstr, 9, D-35033 Marburg, Germany.
  • Page(s) : 372-3
  • Année de parution : 2001

A 55-year-old man was referred to our department by a geneticist to answer the question whether there are additional dermatological features which could help to predict the risk for his children of being affected by his form of oculocutaneous albinism (Fig.1). An ophthalmological examination had previously revealed a reduced visual acuity with photophobia and a hypopigmentated fundus. Additionally, a horizontal nystagmus was found, which [...]