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Dilution, pigmentary

MedGen UID:
406294
•Concept ID:
C1876214
•
Disease or Syndrome
Synonym: ALBINOIDISM, OCULOCUTANEOUS, AUTOSOMAL DOMINANT
 
Monarch Initiative: MONDO:0007459
OMIM®: 126070

Professional guidelines

PubMed

Peripheral genotype-phenotype correlations in Asian Indians with type 2 diabetes mellitus.
Rao PV, Lu X, Pattee P, Turner M, Nandgaonkar S, Paturi BT, Roberts CT Jr, Nagalla SR
J Assoc Physicians India 2005 Jun;53:521-6. PMID: 16121806
Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.
Sanal O, Ersoy F, Tezcan I, Metin A, Yel L, Ménasché G, Gürgey A, Berkel I, de Saint Basile G
J Clin Immunol 2002 Jul;22(4):237-43. doi: 10.1023/a:1016045026204. PMID: 12148598

Recent clinical studies

Etiology

A review of treatment of port-wine stains with pulsed dye laser in fitzpatrick skin type IV-VI.
Eckembrecher FJ, Eckembrecher DG, Camacho I, Shah H, Jaalouk D, Nouri K
Arch Dermatol Res 2023 Nov;315(9):2505-2511. Epub 2023 May 31 doi: 10.1007/s00403-023-02640-3. PMID: 37253863
Genetic analyses of Vietnamese patients with oculocutaneous albinism.
Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND
J Clin Lab Anal 2022 Sep;36(9):e24625. Epub 2022 Jul 23 doi: 10.1002/jcla.24625. PMID: 35870188Free PMC Article
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.
Zhong J, You B, Xu K, Zhang X, Xie Y, Li Y
Ophthalmic Genet 2021 Dec;42(6):717-724. Epub 2021 Aug 4 doi: 10.1080/13816810.2021.1958352. PMID: 34346269

Diagnosis

Annular Erythematous Plaques With Central Hypopigmentation on Sun-Exposed Skin.
Vaught EK, de Castro F, Fischer R
Cutis 2023 Mar;111(3):E40-E42. doi: 10.12788/cutis.0751. PMID: 37224493
Genetic analyses of Vietnamese patients with oculocutaneous albinism.
Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND
J Clin Lab Anal 2022 Sep;36(9):e24625. Epub 2022 Jul 23 doi: 10.1002/jcla.24625. PMID: 35870188Free PMC Article
The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
GPR143 genotypic and ocular phenotypic characterisation in a Chinese cohort with ocular albinism.
Zhong J, You B, Xu K, Zhang X, Xie Y, Li Y
Ophthalmic Genet 2021 Dec;42(6):717-724. Epub 2021 Aug 4 doi: 10.1080/13816810.2021.1958352. PMID: 34346269
Ophthalmologic features of Vici syndrome.
Filloux FM, Hoffman RO, Viskochil DH, Jungbluth H, Creel DJ
J Pediatr Ophthalmol Strabismus 2014 Jul 1;51(4):214-20. Epub 2014 Apr 30 doi: 10.3928/01913913-20140423-02. PMID: 24779424

Therapy

A review of treatment of port-wine stains with pulsed dye laser in fitzpatrick skin type IV-VI.
Eckembrecher FJ, Eckembrecher DG, Camacho I, Shah H, Jaalouk D, Nouri K
Arch Dermatol Res 2023 Nov;315(9):2505-2511. Epub 2023 May 31 doi: 10.1007/s00403-023-02640-3. PMID: 37253863
Comparison of two devices for the treatment of keloid scars with the use of intralesional cryotherapy: An experimental study.
van Leeuwen MC, Bulstra AE, van der Veen AJ, Bloem WB, van Leeuwen PA, Niessen FB
Cryobiology 2015 Aug;71(1):146-50. Epub 2015 Apr 25 doi: 10.1016/j.cryobiol.2015.04.004. PMID: 25920961

Prognosis

The Phenotypic and Mutational Spectrum of the FHONDA Syndrome and Oculocutaneous Albinism: Similarities and Differences.
Kruijt CC, Gradstein L, Bergen AA, Florijn RJ, Arveiler B, Lasseaux E, Zanlonghi X, Bagdonaite-Bejarano L, Fulton AB, Yahalom C, Blumenfeld A, Perez Y, Birk OS, de Wit GC, Schalij-Delfos NE, van Genderen MM
Invest Ophthalmol Vis Sci 2022 Jan 3;63(1):19. doi: 10.1167/iovs.63.1.19. PMID: 35029636Free PMC Article
Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.
Wang J, Li W, Zhou N, Liu J, Zhang S, Li X, Li Z, Yang Z, Sun M, Li M
BMC Med Genomics 2021 Jan 6;14(1):12. doi: 10.1186/s12920-020-00851-5. PMID: 33407466Free PMC Article

Clinical prediction guides

Genetic analyses of Vietnamese patients with oculocutaneous albinism.
Thuong MTH, Anh LTL, Nhung VP, Ngoc TTB, Lan HT, Phuong DK, Ha NH, Van Hai N, Ton ND
J Clin Lab Anal 2022 Sep;36(9):e24625. Epub 2022 Jul 23 doi: 10.1002/jcla.24625. PMID: 35870188Free PMC Article
Identification of a novel mutation in the KITLG gene in a Chinese family with familial progressive hyper- and hypopigmentation.
Wang J, Li W, Zhou N, Liu J, Zhang S, Li X, Li Z, Yang Z, Sun M, Li M
BMC Med Genomics 2021 Jan 6;14(1):12. doi: 10.1186/s12920-020-00851-5. PMID: 33407466Free PMC Article

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