Ishaq Mazhar, Niazi Muhammad Khizar, Khan Muhammad Saim, Nadeem Yasser
Department of Ophthalmology, Armed Forces Institute of Ophthalmology, Rawalpindi.
J Coll Physicians Surg Pak. 2015 Apr;25 Suppl 1:S43-4.
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.
白化病是一种遗传性黑色素合成异常疾病，发病率为每20000例出生中有1例。其临床表现与视觉系统和/或皮肤及被膜色素沉着减少或缺失有关。眼皮肤白化病（OCA）的临床谱系有4种类型，从OCA 1至4，其中OCA 1，A-1是最严重的形式。部分皮肤白化病是OCA的一种亚型，与系统性免疫缺陷疾病如切迪阿克-东综合征（CHS）、格里塞利综合征（GS）和赫尔曼斯基-普德拉克综合征（HPS）相关。一名7岁男孩在1岁时最初被诊断为赫尔曼斯基-普德拉克综合征。在对他以及他4岁的弟弟进行详细检查并进行听力检查后，诊断为赫尔曼斯基-普德拉克综合征和瓦登伯革氏综合征的罕见表现。
