A child with pigment dilution of skin and eyes, hemorrhagic diathesis, ceroid deposition within the reticuloendothelial system has:-
Correct Answer: Hermansky pudlak syndrome
Description: 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
Category:
Pediatrics
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