Albinism history and symptoms: Difference between revisions
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==Overview== | ==Overview== | ||
Patients may present both [[cutaneous]] and [[ocular]] findings. [[Cutaneous]] features include hypopigmented/ white [[hair]], [[skin]], and [[eyelashes]]. [[Ocular]] features include [[photophobia]], decreased [[visual acuity]], pink [[eyes]], [[hypopigmentation]] of [[iris]], and [[strabismus]]. | |||
==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]] | ||
* Patients with severe [[cutaneous]] findings can easier be diagnosed rather than those with only [[ocular albinism]] | * 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 | * Comparing the [[cutaneous]] features of suspected patients with other family members is vital for the diagnosis<ref> {{cite web |url=https://www.ncbi.nlm.nih.gov/books/NBK519018/ |title=Albinism - StatPearls - NCBI Bookshelf |format= |work= |accessdate=}}</ref> | ||
==Symptoms== | === Common Symptoms=== | ||
* [[Cutaneous]] features include: | * [[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> | ||
** | ** White or hypo-pigmented [[hair]] | ||
** | ** White or hypo-pigmented [[eyelashes]] | ||
** | ** White or hypo-pigmented [[skin]] | ||
* [[Ocular]] findings include: | * [[Ocular]] findings include: | ||
** [[Photophobia]] | ** [[Photophobia]] | ||
| Line 20: | Line 21: | ||
** Pink [[eyes]] | ** Pink [[eyes]] | ||
** [[Hypopigmentation]] of [[iris]] | ** [[Hypopigmentation]] of [[iris]] | ||
** [[Strabismus]] | |||
==References== | ==References== | ||
Latest revision as of 15:04, 16 September 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
Patients may present both cutaneous and ocular findings. Cutaneous features include hypopigmented/ white hair, skin, and eyelashes. Ocular features include photophobia, decreased visual acuity, pink eyes, hypopigmentation of iris, and strabismus.
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]
Common Symptoms
- Cutaneous features include:[2][3]
- Ocular findings include:
- Photophobia
- Decreased visual acuity
- Pink eyes
- Hypopigmentation of iris
- Strabismus
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.