Differentiating Albinism from other diseases: Difference between revisions

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Revision as of 20:10, 23 August 2021

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

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

@@ Line 31: / Line 31: @@
 | style="background:#F5F5F5;" +|
 * [[ Oculocutaneous albinism]]
-* Increased susceptibility to bacterial infection
+* Increased susceptibility to [[bacterial infection]]
 * Increased [[bleeding time]]
 * [[Peripheral neuropathy]]
@@ Line 42: / Line 42: @@
 * Immune impairment
 * [[Neurological deficit]]
-* [[Melanin]] aggregation in hair shaft
+* [[Melanin]] aggregation in [[hair shaft]]
 |-
 | style="background:#DCDCDC;" align="center" + | [[Waardenburg syndrome type II]]
 | style="background:#F5F5F5;" + | [[Autosomal dominant]]
-| style="background:#F5F5F5;" + | MITF gene mutation
+| style="background:#F5F5F5;" + | [[MITF]] [[gene mutation]]
 | style="background:#F5F5F5;" + |
-* Patchy skin hypo pigmentation
+* Patchy skin [[hypopigmentation]]
-*  white forelock or prematurely gray hair, iris heterochromia, sensorineural hearing loss
+* [[Iris heterochromia]]
+* [[sensorineural hearing loss]]
 |-
-| style="background:#DCDCDC;" align="center" + |
+| style="background:#DCDCDC;" align="center" + | Vici syndrome
+| style="background:#F5F5F5;" + |[[Autosomal recessive]]
 | style="background:#F5F5F5;" + |
+* Mutation in ectopic P granules protein 5
+* Absent of [[corpus callosum]]
 | style="background:#F5F5F5;" + |
+* [[Skin]] and [[hair]] [[hypopigmentation]]
 |-
 |}