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2024, Vol: 8, Issue: 5
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Case Report

Online Publishing Date:
16 / 12 / 2022

 


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<A leading to protein change p (Val 1058Asp), this suggested pathogenic variant of HPS2.
Conclusion: A novel homozygous mutation in AP3B1 gene c3173T<A leading to protein change p (Val 1058Asp) was reported. There is an urgent need for an international registry to help with the diagnosis and treatment of hereditary protein S and hereditary protein S type 2 illnesses due to their rarity.

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: March 26, 2024]. 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 March 26, 2024]; 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

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 7.2 (2023), 393-395. Print. doi:10.24911/IJMDC.51-1669476141


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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