A child with pigment dilution of skin and eyes, hemorrhagic diathesis, ceroid deposition within the reticuloendothelial system has:-: (A) Bloom syndrome, (B) Hermansky pudlak syndrome, (C) Alezzandrini syndrome, (D) Vogt-koyanogi syndrome
Answer is B. Hermansky-Pudlak syndrome Oculocutaneous albinism Ceroid accumulation in lysosomes Prolonged bleeding time. Bloom syndrome : Erythema and telangiectasia on face after exposure to sunlight Immunodeficiency, GI malabsorption and hypogonadism are common. Alezzandrini syndrome: Deafness Vitiligo Poliosis Vogt-Koyanagi-Harada syndrome: Vitiligo associated with uveitis Dysacusia Meningoencephalitis