Differentiating Albinism from other diseases

Albinism Microchapters
Home
Patient Information
Overview
Historical Perspective
Classification
Pathophysiology
Causes
Differentiating Albinism from other Diseases
Epidemiology and Demographics
Risk Factors
Screening
Natural History, Complications and Prognosis
Diagnosis
History and Symptoms
Physical Examination
Laboratory Findings
Electrocardiogram
X Ray
CT
MRI
Echocardiography or Ultrasound
Other Imaging Findings
Other Diagnostic Studies
Treatment
Medical Therapy
Surgery
Primary Prevention
Secondary Prevention
Cost-Effectiveness of Therapy
Future or Investigational Therapies
Case Studies
Case #1
Differentiating Albinism from other diseases On the Web
Most recent articles
Most cited articles
Review articles
CME Programs
Powerpoint slides
Images
American Roentgen Ray Society Images of Differentiating Albinism from other diseases All Images X-rays Echo & Ultrasound CT Images MRI
Ongoing Trials at Clinical Trials.gov
US National Guidelines Clearinghouse
NICE Guidance
FDA on Differentiating Albinism from other diseases
CDC on Differentiating Albinism from other diseases
Differentiating Albinism from other diseases in the news
Blogs on Differentiating Albinism from other diseases
Directions to Hospitals Treating Albinism
Risk calculators and risk factors for Differentiating Albinism from other diseases

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

Differential Diagnosis

• Oculocutaneous albinism and ocular albinism must be differentiated from following disorders:

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 Microcephaly Immunodeficiency Cardiac abnormalities Cataracts Cleft lip and palate Neurologic abnormalities
Tietz albinism-deafness syndrome	Autosomal dominant	MITF gene mutation	White eyebrows and eyelashes Iris hypopigmentation Sensorineural hearing loss
Angelman syndrome	Loss of the maternal copy of chromosome 15q11.2-13	-	Skin and hair hypopigmentation characteristic facial features Short stature Mental retardation Spastic gait Seizure Inappropriate outburst of laughter
Prader-Willi syndrome	Loss of the paternal copy of chromosome 15q11.2-13	-	Skin and hair hypopigmentation Poor muscle tone Short stature Mental retardation Hyperphagia leads obesity and type 2 diabetes