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European Journal of Dermatology

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Primary leptomeningeal melanocytic tumour with a plaque-like blue nevus in a patient with ocular albinism Volume 26, issue 5, September-October 2016

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Authors
1 Department of Biopathology, University Hospital, 80 av Augustin Fliche, 34295 Montpellier Cedex 5,
2 Department of Biopathology, Centre Léon Bérard, 28 rue Laennec, 69008 Lyon,
3 Reference Center of Genetic Neurosensory Diseases, University Hospital, 80 av Augustin Fliche; Institute of Neurosciences, INSERM, 34295 Montpellier Cedex 5,
4 Department of Medical Genetics, University Hospital, 1 place Amélie Raba-Léon, 33076 Bordeaux Cedex,
5 Department of Neurosurgery, University Hospital, 80 av Augustin Fliche, 34295, Montpellier Cedex 5,
6 Department of Dermatology, University Hospital, 80 av Augustin Fliche, 34295, Montpellier Cedex 5,
7 Tumorotheque of Biopathology, University Hospital, 80 av Augustin Fliche, 34295, Montpellier Cedex 5, France

A 17-year-old girl displayed symptoms of intra-cranial hypertension revealed by chronic diffuse cephalalgia. She underwent surgery for strabismus in childhood and had clinical evidence of ocular albinism (OA), characterized by a partially transilluminated iris at eye examination, and a heterogeneous retinal pigmentation at fundoscopy. This condition was also diagnosed in her father and sister. The diagnosis was confirmed by GPR143 (OA1) sequencing in blood leucocytes, which showed a germline mutation [...]