A rare case of Hermansky-Pudlak syndrome


  • Pushpa G. Kini Department of Paediatrics, Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India
  • Aashna Bhatia Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India
  • Rukmoni Balasubramanian Kasturba Medical College, Manipal Academy of Higher Education, Manipal, Karnataka, India




HPS, Oculocutaneous albinism, Nystagmus, Neutropenia, T-cell defect


Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterised by oculocutaneous albinism, a bleeding diathesis and platelet storage deficiency. Aim of this paper is to report a case of patient with HPS who was followed over a decade. A 2-and-a-half-year-old boy presented with recurrent respiratory tract infections and global developmental delay. On examination, he had light golden hair, grey iris with nystagmus, fundus hypo-pigmented fovea and white macules all over body. Also found to have neutropenia without granules on peripheral smear. HPS can often be diagnostic dilemma mimicking disorders like Chediak-Higashi syndrome (CHS), in this case diagnosis was made due to characteristic skin and hair hypopigmentation and ocular findings along with bleeding diathesis. Our patient categorised under HPS2 subtype which has mild immunodeficiency. HPS is usually associated with neutropenia and hence pyogenic infections, present case however was associated with advanced form of pulmonary tuberculosis-miliary TB and granulomatous TB lymphadenitis giving rise to the possibility of T-cell defect.


Santiago Borrero PJ, Rodríguez-Pérez Y, Renta JY, Izquierdo NJ, Del Fierro L, Muñoz D et al. Genetic Testing for Oculocutaneous Albinism Type 1 and 2 and Hermansky–Pudlak Syndrome Type 1 and 3 Mutations in Puerto Rico. J Investigative Dermatol. 2006;126(1):85-90.

Nazir HF, AL Sukaiti N, Khater D, Elbeshlawy I, Hassanein N. Hermansky-Pudlak Syndrome: Spectrum in Oman. J Pediatr Hematol Oncol. 2023;45(3):e389-94.

Introne WJ, Huizing M, Malicdan MCV, O’Brien KJ, Gahl WA. Hermansky-Pudlak Syndrome. Gene Rev. Seattle (WA): University of Washington, Seattle. 1993.

Bagheri A, Abdollahi A. Hermansky-pudlak syndrome; a case report. J Ophthalmic Vis Res. 2010;5(4):269-72.

Harmon KR, Witkop CJ, White JG, King RA, Peterson M, Moore D et al. Pathogenesis of pulmonary fibrosis: platelet-derived growth factor precedes structural alterations in the Hermansky-Pudlak syndrome. J Lab Clin Med. 1994;123(4):617-27.

Garay SM, Gardella JE, Fazzini EP, Goldring RM. Hermansky-Pudlak syndrome. Pulmonary manifestations of a ceroid storage disorder. Am J Med. 1979;66(5):737-47.

Schinella RA, Greco MA, Cobert BL, Denmark LW, Cox RP. Hermansky-Pudlak syndrome with granulomatous colitis. Ann Intern Med. 1980;92(1):20-3.

Summers CG, Hand JL. Hermansky-Pudlak syndrome. Post TedW, editor. UpToDate, Waltham, MA.

Pierson DM, Ionescu D, Qing G, Yonan AM, Parkinson K, Colby TC et al. Pulmonary Fibrosis in Hermansky-Pudlak Syndrome. Respiration. 2006;73(3):382-95.

Lorenzi L, Tabellini G, Vermi W, Moratto D, Porta F, Notarangelo LD et al. Occurrence of Nodular Lymphocyte-Predominant Hodgkin Lymphoma in Hermansky-Pudlak Type 2 Syndrome Is Associated to Natural Killer and Natural Killer T Cell Defects. PLoS One. 2013;8(11):e80131.

Cavounidis A, Pandey S, Capitani M, Friedrich M, Cross A, Gartner L et al. Hermansky-Pudlak syndrome type 1 causes impaired anti-microbial immunity and inflammation due to dysregulated immunometabolism. Mucosal Immunol. 2022;15(6):1431-46.

Berliner N, Horwitz M, Loughran TP. Congenital and Acquired Neutropenia. Hematology. 2004;2004(1):63-79.

Lalvani A, Millington KA. T Cells and Tuberculosis: Beyond Interferon‐γ. J Infect Dis. 2008;197(7):941-3.

Flynn JL, Chan J, Triebold KJ, Dalton DK, Stewart TA, Bloom BR. An essential role for interferon gamma in resistance to Mycobacterium tuberculosis infection. Journal of Experimental Medicine. 1993;178(6):2249-54.

Ottenhoff THM, Kumararatne D, Casanova JL. Novel human immunodeficiencies reveal the essential role of type-1 cytokines in immunity to intracellular bacteria. Immunol Today. 1998;19(11):491-4.

Prandini A, Salvi V, Colombo F, Moratto D, Lorenzi L, Vermi W et al. Impairment of dendritic cell functions in patients with adaptor protein-3 complex deficiency. Blood. 2016;127(26):3382-6.






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