Partial Oculocutaneous Albinism: Two Siblings with Features of both Hermansky Pudlak and Waardenburg's Syndrome.
Albinism is an inherited abnormality of melanin synthesis with incidence of one per 20,000 births. Its clinical manifestations are related to the reduction or absence of pigmentation in the visual system and/or the skin and teguments. The clinical spectrum of Oculocutaneous Albinism (OCA) has four types ranging from OCA 1 - 4, of which OCA 1, A-1 is the most severe form. Partial cutaneous albinism which is a subtype of OCA is associated with systemic immunodeficiency disorders like Chediak Higashi (CHS), Griscelli (GS) and Hermansky-Pudlak (HPS) syndromes. A7 years boy was labeled initially as a case of Hermansky Pudlak syndrome at the age of 01 year. He as well as his 4 years old younger brother when examined in detail along with audiological investigations were diagnosed as a rare presentation of both Hermansky Pudlak and Waardenburg's syndrome.
Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.
Mazhar
M
Ishaq
Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.
Muhammad Khizar
MK
Niazi
Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.
Muhammad Saim
MS
Khan
Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.
Yasser
Y
Nadeem
D016115:Albinism, Oculocutaneous / Q000235:genetics* / Q000473:pathology; D000818:Animals; D002648:Child; D002675:Child, Preschool; D003241:Consanguinity; D022861:Hermanski-Pudlak Syndrome / Q000235:genetics* / Q000473:pathology; D006801:Humans; D051379:Mice; D010641:Phenotype; D035781:Siblings; D014849:Waardenburg Syndrome / Q000235:genetics* / Q000473:pathology