Albinism history and symptoms: Difference between revisions
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==Overview== | ==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== | ==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> | ||
** [[ | ** [[Hypopigmentated]]/ white [[hair]] | ||
** [[ | ** [[Hypopigmentated]]/ white [[eyelashes]] | ||
** [[ | ** [[Hypopigmentated]]/ white [[skin]] | ||
* [[Ocular]] findings include: | * [[Ocular]] findings include: | ||
** [[Photophobia]] | ** [[Photophobia]] | ||
** Decreased [[visual acuity]] | ** Decreased [[visual acuity]] | ||
** Pink [[eyes]] | ** Pink [[eyes]] | ||
** [[ | ** [[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
- Patients with albinism have positive familial history of as albinism is inherited by genetic mutation
- Patients with severe cutaneous findings can easier be diagnosed rather than those with only ocular albinism
- Comparing the cutaneous features of suspected patients with other family members is vital for the diagnosis[1]
Symptoms
- Cutaneous features include:[2][3]
- Hypopigmentated/ white hair
- Hypopigmentated/ white eyelashes
- Hypopigmentated/ white skin
- Ocular findings include:
- Photophobia
- Decreased visual acuity
- Pink eyes
- Hypopigmentated iris
References
- ↑ "Albinism - StatPearls - NCBI Bookshelf".
- ↑ King RA, Summers CG (1988). "Albinism". Dermatol Clin. 6 (2): 217–28. PMID 3288382.
- ↑ 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.