Clinico ‐molecular analysis of eleven patients with Hermansky–Pudlak type 5 syndrome, a mild form of HPS

We report 11 new pathogenic variants. The 11 patients present with ocular features that are typical for albinism, with mild hypopigmentation, and with no other major complication, apart from a tendency to bleed. HPS‐5 therefore appears as a mild form of HPS, which is often clinically undistinguishable from mild oculocutaneous or ocular forms of albinism. Molecular analysis is therefore required to establish the diagnosis of this mild HPS form, which has consequences in terms of prognosis and of clinical management of the patients.

Source: Pigment Cell Research - October 20, 2017 Category: Cytology Authors: Vincent Michaud, Eulalie Lasseaux, Claudio Plaisant, Alain Verloes, Yaumara Perdomo ‐Trujillo, Christian Hamel, Nursel H. Elcioglu, Bart Leroy, Josseline Kaplan, Pierre‐Simon Jouk, Didier Lacombe, Patricia Fergelot, Fanny Morice‐Picard, Benoit Arvei Tags: SHORT COMMUNICATION Source Type: research