Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising

Fahad Abdullah Wajdi; Deena Mohammed Hasanain; Hassan Musa Masmali

doi:10.24911/IJMDC.51-1669476141

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Case Report
Online Published: 16 Dec 2022

IJMDC. 2023; 7(2): 393-395

doi: 10.24911/IJMDC.51-1669476141

Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising

Fahad Abdullah Wajdi, Deena Mohammed Hasanain, Hassan Musa Masmali.

Abstract
Background: Hermansky-Pudlak syndrome (HPS) is an inherited multisystem disorder, which includes oculocutaneous albinism that might result from mutations in any 1 of at least 10 different genes. Biallelic mutations in AP3B1 on chromosome 5q14.1 are linked to HPS type 2 (HPS2). Lysosomal-related cell dysfunctions are caused by the AP3B1 gene mutation, which causes the adaptor protein 3 complex to form insufficiently.
Case Presentation: A case of a 6-year-old Saudi girl was reported with frequent nasal bleeding and skin bruises. On examination, the patient looked syndromic with hypopigmentation, brown hair, wearing glasses, had no nystagmus, and green iris. The whole-exome sequencing study results showed a novel homozygous mutation in AP3B1 gene c3173T Conclusion: A novel homozygous mutation in AP3B1 gene c3173T Key words: Hermansky-Pudlak syndrome type 2, mutation, neutropenia, hypopigmentation.

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Pubmed Style

Wajdi FA, Hasanain DM, Masmali HM. Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising. IJMDC. 2023; 7(2): 393-395. doi:10.24911/IJMDC.51-1669476141

Web Style

Wajdi FA, Hasanain DM, Masmali HM. Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising. https://www.ijmdc.com/?mno=132889 [Access: February 15, 2025]. doi:10.24911/IJMDC.51-1669476141

AMA (American Medical Association) Style

Wajdi FA, Hasanain DM, Masmali HM. Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising. IJMDC. 2023; 7(2): 393-395. doi:10.24911/IJMDC.51-1669476141

Vancouver/ICMJE Style

Wajdi FA, Hasanain DM, Masmali HM. Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising. IJMDC. (2023), [cited February 15, 2025]; 7(2): 393-395. doi:10.24911/IJMDC.51-1669476141

Harvard Style

Wajdi, F. A., Hasanain, . D. M. & Masmali, . H. M. (2023) Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising. IJMDC, 7 (2), 393-395. doi:10.24911/IJMDC.51-1669476141

Turabian Style

Wajdi, Fahad Abdullah, Deena Mohammed Hasanain, and Hassan Musa Masmali. 2023. Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising. International Journal of Medicine in Developing Countries, 7 (2), 393-395. doi:10.24911/IJMDC.51-1669476141

Chicago Style

Wajdi, Fahad Abdullah, Deena Mohammed Hasanain, and Hassan Musa Masmali. "Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising." International Journal of Medicine in Developing Countries 7 (2023), 393-395. doi:10.24911/IJMDC.51-1669476141

MLA (The Modern Language Association) Style

APA (American Psychological Association) Style

Wajdi, F. A., Hasanain, . D. M. & Masmali, . H. M. (2023) Hermansky-Pudlak syndrome type-2 and oculocutaneous albinism in Saudi children with pigmentation defect and easy bruising. International Journal of Medicine in Developing Countries, 7 (2), 393-395. doi:10.24911/IJMDC.51-1669476141

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