Differentiating Albinism from other diseases

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Shadan Mehraban, M.D.[2]

Differential Diagnosis

Differential diagnosis of Albinism

Disease	Inheritance	Gene mutation	Diagnostic criteria
Hermansky-Pudlak syndrome	Autosomal recessive	* Affected genes of lysosome-related organelles	Oculocutaneous albinism Accumulation of ceroid in tissues Immunologic deficiency Interstitial lung fibrosis Granulomatous colitis Bleeding problem (deficiency of granules in platelets)
Chediak-Higashi syndrome	Autosomal recessive	*Lysosomal trafficking regulator gene	Oculocutaneous albinism Increased susceptibility to bacterial infection Increased bleeding time Peripheral neuropathy
Griscelli syndrome	Autosomal recessive	* Defects in myosin, myosin receptors, and binding	Albinism Immune impairment Neurological deficit Melanin aggregation in hair shaft
Waardenburg syndrome type II	Autosomal dominant	* MITF gene mutation	Patchy skin hypopigmentation Iris heterochromia sensorineural hearing loss
Vici syndrome	Autosomal recessive	Mutation in ectopic P granules protein 5 Absent of corpus callosum	Skin and hair hypopigmentation