Differentiating Albinism from other diseases: Difference between revisions

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! style="background:#4479BA; color: #FFFFFF;" align="center" + | Disease
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Disease
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Inheritance
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Inheritance
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Signs/symptoms
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Gene mutation
! style="background:#4479BA; color: #FFFFFF;" align="center" + | Diagnostic criteria
|-
|-
| style="background:#DCDCDC;" align="center" + | Hermansky-Pudlak syndrome (HPS)
| style="background:#DCDCDC;" align="center" + | [[Hermansky-Pudlak syndrome]]
| style="background:#F5F5F5;" +| Autosomal recessive
| style="background:#F5F5F5;" +| [[Autosomal recessive]]
| style="background:#F5F5F5;" +| Affected genes of [[ lysosome-related organelles]]
| style="background:#F5F5F5;" +|  
| style="background:#F5F5F5;" +|  
* Cutaneous hypo-pigmentation
* [[Oculocutaneous albinism]]
* Immunologic deficiency  
*  Accumulation of ceroid in tissues
* Interstitial lung fibrosis
* [[Immunologic deficiency]]
* Granulomatous colitis
* [[Interstitial lung fibrosis]]
* Bleeding problem  
* [[Granulomatous colitis]]
* [[Bleeding]] problem (deficiency of [[granules]] in [[platelets]])
|-
|-
| style="background:#DCDCDC;" align="center" + |
| style="background:#DCDCDC;" align="center" + | [[Chediak-Higashi syndrome]]
| style="background:#F5F5F5;" +|[[Autosomal recessive]]
| style="background:#F5F5F5;" +| [[Lysosomal trafficking regulator gene]]
| style="background:#F5F5F5;" +|
| style="background:#F5F5F5;" +|
| style="background:#F5F5F5;" +|
* [[ Oculocutaneous albinism]]
 
* Increased susceptibility to bacterial infection
* Increased [[bleeding time]]
* [[Peripheral neuropathy]]
|-
|-
| style="background:#DCDCDC;" align="center" + |
| style="background:#DCDCDC;" align="center" + | [[Griscelli syndrome]]
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |[[Autosomal recessive]]
| style="background:#F5F5F5;" + | Defects in [[myosin]], [[myosin receptors]], and binding
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
* [[Albinism]]
* Immune impairment
* [[Neurological deficit]]
* [[Melanin]] aggregation in hair shaft
|-
|-
| style="background:#DCDCDC;" align="center" + |
| style="background:#DCDCDC;" align="center" + | [[Waardenburg syndrome type II]]
| style="background:#F5F5F5;" + | [[Autosomal dominant]]
| style="background:#F5F5F5;" + | MITF gene mutation
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
| style="background:#F5F5F5;" + |
* Patchy skin hypo pigmentation
*  white forelock or prematurely gray hair, iris heterochromia, sensorineural hearing loss
 
|-
|-
| style="background:#DCDCDC;" align="center" + |  
| style="background:#DCDCDC;" align="center" + |  
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==References==
==References==

Revision as of 19:51, 23 August 2021

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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]

Overview

Differential Diagnosis

Differential diagnosis of Albinism
Disease Inheritance Gene mutation Diagnostic criteria
Hermansky-Pudlak syndrome Autosomal recessive Affected genes of lysosome-related organelles
Chediak-Higashi syndrome Autosomal recessive Lysosomal trafficking regulator gene
Griscelli syndrome Autosomal recessive Defects in myosin, myosin receptors, and binding
Waardenburg syndrome type II Autosomal dominant MITF gene mutation
  • Patchy skin hypo pigmentation
  • white forelock or prematurely gray hair, iris heterochromia, sensorineural hearing loss

References

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