RESULTS: A 6-year old Paraguayan male presented with hypopigmentation, ocular albinism, nystagmus, reduced visual acuity, and easy bruising. [ncbi.nlm.nih.gov]

HPS patients may experience frequent epistaxis, easy bruising, and prolonged bleeding with injury or surgery. [preventiongenetics.com]

bruising. 61 Power B...Gochuico BR 30791930 2019 42 Crohn's-like acute severe colitis associated with Hermansky-Pudlak syndrome: A case report. 61 Girot P...Bourreille A 30833808 2019 43 Plasma lipidomic profiling in murine mutants of Hermansky-Pudlak [malacards.org]

The bleeding diathesis can result in easy bruising, frequent epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. [flybase.org]

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United States of America. 2 Office of the Clinical Director, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, United States of America. 3 Advanced Lung Disease and Transplant Program, Inova Fairfax Hospital, Falls [ncbi.nlm.nih.gov]

Diseases Acrokeratoelastoidosis Acropustulosis of Infancy Acute Hemorrhagic Edema of Infancy Alezzandrini Syndrome Aplasia Cutis Congenita Asymmetric Periflexural Exanthem of Childhood Ataxia-Telangiectasia Atrophia Maculosa Varioliformis Cutis Bloom [dokterairlangga.com]

A 48-year-old male patient with a diagnosis of Hermansky-Pudlak syndrome admitted with dyspnea. A thorax computed tomography revealed bilateral diffuse interlobular septal thickness which was more prominent in the basal segments of lower lobes. [ncbi.nlm.nih.gov]

He also had tachycardia and tachypnea with grade 3 digital clubbing. On auscultation of chest there was presence of bilateral basal fine end inspiratory velcro-like crackles. Other systemic examinations were normal. [mjmsr.net]

We describe a patient diagnosed with platelet dense granule storage pool deficiency (DG-SPD) at age 38 years after he presented with spontaneous intracranial hemorrhage. His mild oculocutaneous hypopigmentation was subtle. [ncbi.nlm.nih.gov]