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Fig. 2 | Orphanet Journal of Rare Diseases

Fig. 2

From: Hermansky-Pudlak syndrome and oculocutaneous albinism in Chinese children with pigmentation defects and easy bruising

Fig. 2

Hypopigmentation in Chinese Pediatric Patients with Hermansky-Pudlak Syndrome or Non-syndromic Oculocutaneous Albinism Type 1. An albinotic phenotype is observed in four Chinese children with Hermansky-Pudlak syndrome (HPS) (a-d) and four Chinese children with non-syndromic oculocutaneous albinism type 1 (OCA1) (e-h). The patients with HPS-1 or HPS-4 had light brown or blond hair (a, c, or d), which is atypical for Chinese individuals who generally have black hair. The child with HPS-3 had dark brown hair. A severe pigment defect is observed in four patients with OCA1, who had white hair (e-h)

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172