Albinism history and symptoms: Difference between revisions

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==Overview==
==Overview==
Patinets may have cutaneous findings including
Patinets may have [[cutaneous]] and [[ocular]] findings. Cutaneous fetaures include [[hypopigmentated]]/ white [[hair]], [[skin]], and [[eyelashes]]. Ocular features include [[photophobia]], decreased [[visual acuity]], pink [[eyes]], and [[hypopigmentated]] [[iris]].
==History==
==History==
* Patients with [[albinism]] have positive [[familial history]] of  as [[albinism]] is inherited by [[genetic mutation]]
* Patients with [[albinism]] have positive [[familial history]] of  as [[albinism]] is inherited by [[genetic mutation]]
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==Symptoms==
==Symptoms==
* [[Cutaneous]] features include:<ref name="pmid3288382">{{cite journal| author=King RA, Summers CG| title=Albinism. | journal=Dermatol Clin | year= 1988 | volume= 6 | issue= 2 | pages= 217-28 | pmid=3288382 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3288382  }} </ref><ref name="pmid546241">{{cite journal| author=Witkop CJ| title=Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. | journal=Ala J Med Sci | year= 1979 | volume= 16 | issue= 4 | pages= 327-30 | pmid=546241 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=546241  }} </ref>
* [[Cutaneous]] features include:<ref name="pmid3288382">{{cite journal| author=King RA, Summers CG| title=Albinism. | journal=Dermatol Clin | year= 1988 | volume= 6 | issue= 2 | pages= 217-28 | pmid=3288382 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=3288382  }} </ref><ref name="pmid546241">{{cite journal| author=Witkop CJ| title=Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism. | journal=Ala J Med Sci | year= 1979 | volume= 16 | issue= 4 | pages= 327-30 | pmid=546241 | doi= | pmc= | url=https://www.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pubmed&tool=sumsearch.org/cite&retmode=ref&cmd=prlinks&id=546241  }} </ref>
** [[Hypopigmentation]]/ white [[hair]]
** [[Hypopigmentated]]/ white [[hair]]
** [[Hypopigmentation]]/ white [[eyelashes]]  
** [[Hypopigmentated]]/ white [[eyelashes]]  
** [[Hypopigmentation]]/ white [[skin]]
** [[Hypopigmentated]]/ white [[skin]]
* [[Ocular]] findings include:
* [[Ocular]] findings include:
** [[Photophobia]]  
** [[Photophobia]]  
** Decreased [[visual acuity]]
** Decreased [[visual acuity]]
** Pink [[eyes]]
** Pink [[eyes]]
** [[Hypopigmentation]] of [[iris]]
** [[Hypopigmentated]] [[iris]]


==References==
==References==

Revision as of 19:39, 19 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

Patinets may have cutaneous and ocular findings. Cutaneous fetaures include hypopigmentated/ white hair, skin, and eyelashes. Ocular features include photophobia, decreased visual acuity, pink eyes, and hypopigmentated iris.

History

Symptoms

References

  1. "Albinism - StatPearls - NCBI Bookshelf".
  2. King RA, Summers CG (1988). "Albinism". Dermatol Clin. 6 (2): 217–28. PMID 3288382.
  3. Witkop CJ (1979). "Albinism: hematologic-storage disease, susceptibility to skin cancer, and optic neuronal defects shared in all types of oculocutaneous and ocular albinism". Ala J Med Sci. 16 (4): 327–30. PMID 546241.

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