Hermansky-Pudlak syndrome
Abstract
Hermansky-Pudlak syndrome is a rare autosomal recessive multisystem disease, with oculocutneous albinism, pulmonary fibrosis and bleeding diathesis. Here we report a case of Hermansky-Pudlak syndrome who presented with dyspnea,oculocutaneous albinism and nystagmus.References
1. Pierson DM, Ionescu D, Qing G, et al. Pulmonary fibrosis in Hermansky-Pudlak syndrome. A case report and review. Respiration 2006;73:382-95.
2. Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987;26:305-11.
3. Gahl WA, Brantly M, Troendle J, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky- Pudlak syndrome. Mol Genet Metab. 2002;76(3):234-242
2. Witkop CJ, Krumwiede M, Sedano H, White JG. Reliability of absent platelet dense bodies as a diagnostic criterion for Hermansky-Pudlak syndrome. Am J Hematol 1987;26:305-11.
3. Gahl WA, Brantly M, Troendle J, et al. Effect of pirfenidone on the pulmonary fibrosis of Hermansky- Pudlak syndrome. Mol Genet Metab. 2002;76(3):234-242
Published
2017-02-23
How to Cite
A, Preena et al.
Hermansky-Pudlak syndrome.
BMH Medical Journal - ISSN 2348–392X, [S.l.], v. 4, n. 2, p. 62-64, feb. 2017.
ISSN 2348-392X.
Available at: <https://www.babymhospital.org/BMH_MJ/index.php/BMHMJ/article/view/123>. Date accessed: 25 apr. 2024.
Section
Case Reports
