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]

## Overview[edit | edit source]

Oculocutaneous albinism and ocular albinism must be differentiated from the following rare disease: Hermansky-Pudlak syndrome, Chediak-Higashi syndrome, Griscelli syndrome, Waardenburg syndrome type II, Vici syndrome, Tietz albinism-deafness syndrome, Angelman syndrome, Prader-Willi syndrome, Cross-McKusick-Breen syndrome, Achromatopsia, Aland Island eye disease (Forsius-Eriksson syndrome), Aniridia, and Congenital nystagmus.

## Differential Diagnosis[edit | edit source]

* Oculocutaneous albinism and ocular albinism must be differentiated from following disorders:[1][2][3][4][5][6][7][8][9]

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

Cross-McKusick-Breen syndrome | Autosomal recessive | De novo interstitial deletion of (3)(q27.1q29) of the paternal chromosome |

* Skin and hair hypopigmentation
* Microphthalmia
* Corneal opacification
* Nystagmus
* Athetosis
* Ataxia
* Joint contractures
* Spastic tetraplegia

Achromatopsia | Autosomal recessive | Dysfunctional cone cells in the retina |

* Loss of color vision
* Photophobia
* Nystagmus
* Low visual acuity with hyperopia

Aland Island eye disease (Forsius-Eriksson syndrome)  | X-linked recessive | Novel CACNA1F gene mutation |

* fundal hypopigmentation
* Foveal hypoplasia
* Myopia and astigmatism
* Nystagmus
* Night blindness

Aniridia | Autosomal dominant | PAX6 gene mutation |

* Absence of the iris
* Foveal hypoplasia
* nystagmus
* Amblyopia
* cataracts

Congenital nystagmus | X-linked disorder  | FRMD7 gene mutation |

* Nystagmus
* Reduced visual acuity

## References[edit | edit source]

1. ↑ "Albinism - StatPearls - NCBI Bookshelf".
2. ↑ Lee ST, Nicholls RD, Bundey S, Laxova R, Musarella M, Spritz RA (1994). "Mutations of the P gene in oculocutaneous albinism, ocular albinism, and Prader-Willi syndrome plus albinism". N Engl J Med. 330 (8): 529–34. doi:10.1056/NEJM199402243300803. PMID 8302318.CS1 maint: Multiple names: authors list (link)
3. ↑ HERMANSKY F, PUDLAK P (1959). "Albinism associated with hemorrhagic diathesis and unusual pigmented reticular cells in the bone marrow: report of two cases with histochemical studies". Blood. 14 (2): 162–9. PMID 13618373.
4. ↑ DePinho RA, Kaplan KL (1985). "The Hermansky-Pudlak syndrome. Report of three cases and review of pathophysiology and management considerations". Medicine (Baltimore). 64 (3): 192–202. PMID 3921802.
5. ↑ Witkop CJ, Nuñez Babcock M, Rao GH, Gaudier F, Summers CG, Shanahan F; et al. (1990). "Albinism and Hermansky-Pudlak syndrome in Puerto Rico". Bol Asoc Med P R. 82 (8): 333–9. PMID 2261023.CS1 maint: Multiple names: authors list (link)
6. ↑ Dimson O, Drolet BA, Esterly NB (1999). "Hermansky-Pudlak syndrome". Pediatr Dermatol. 16 (6): 475–7. doi:10.1046/j.1525-1470.1999.00122.x. PMID 10632950.CS1 maint: Multiple names: authors list (link)
7. ↑ Fukai K, Ishii M, Kadoya A, Chanoki M, Hamada T (1993). "Chédiak-Higashi syndrome: report of a case and review of the Japanese literature". J Dermatol. 20 (4): 231–7. doi:10.1111/j.1346-8138.1993.tb03867.x. PMID 8315113.CS1 maint: Multiple names: authors list (link)
8. ↑ Mancini AJ, Chan LS, Paller AS (1998). "Partial albinism with immunodeficiency: Griscelli syndrome: report of a case and review of the literature". J Am Acad Dermatol. 38 (2 Pt 2): 295–300. doi:10.1016/s0190-9622(98)70568-7. PMID 9486701.CS1 maint: Multiple names: authors list (link)
9. ↑ WAARDENBURG PJ (1951). "A new syndrome combining developmental anomalies of the eyelids, eyebrows and nose root with pigmentary defects of the iris and head hair and with congenital deafness". Am J Hum Genet. 3 (3): 195–253. PMC 1716407. PMID 14902764.

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