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Absent skin pigmentation

MedGen UID:
393051
Concept ID:
C2673954
Finding
Synonym: Lack of skin coloration
 
HPO: HP:0200098

Definition

Lack of skin pigmentation (coloring). [from HPO]

Conditions with this feature

Tyrosinase-negative oculocutaneous albinism
MedGen UID:
1643910
Concept ID:
C4551504
Disease or Syndrome
Researchers have identified multiple types of oculocutaneous albinism, which are distinguished by their specific skin, hair, and eye color changes, and by their genetic cause. Oculocutaneous albinism type 1 is characterized by white hair, very pale skin, and light-colored irises. Type 2 is typically less severe than type 1; the skin is usually pale and hair may be light yellow, blond, or light brown. Type 3 causes reddish-brown skin, ginger or red hair, and hazel or brown irises. Type 3 is often associated with milder vision abnormalities than the other forms of oculocutaneous albinism. Type 4 has signs and symptoms similar to those seen in people with type 2.\n\nThere are several additional, rare types of oculocutaneous albinism.\n\nOculocutaneous albinism also reduces pigmentation of the colored part of the eye (the iris) and the light-sensitive tissue at the back of the eye (the retina). People with this condition usually have vision problems such as reduced sharpness; rapid, involuntary eye movements (nystagmus); eyes that do not point in the same direction (strabismus); and increased sensitivity to light (photophobia).\n\nOculocutaneous albinism is a group of conditions that affect the color of (pigmentation) of the skin, hair, and eyes. Affected individuals typically have very fair skin and white or light-colored hair. Long-term sun exposure greatly increases the risk of skin damage and skin cancers, including an aggressive form of skin cancer called melanoma, in people with this condition. 

Professional guidelines

PubMed

Iannitti T, Rottigni V, Torricelli F, Palmieri B
Clin Appl Thromb Hemost 2014 Apr;20(3):326-30. Epub 2012 Oct 17 doi: 10.1177/1076029612461844. PMID: 23076772
Ho SG, Chan NP, Yeung CK, Shek SY, Kono T, Chan HH
J Cosmet Laser Ther 2012 Apr;14(2):74-80. doi: 10.3109/14764172.2012.670707. PMID: 22372516
Pagnoni A, Kligman AM, Sadiq I, Stoudemayer T
Acta Derm Venereol 1999 Jul;79(4):305-10. doi: 10.1080/000155599750010724. PMID: 10429990

Recent clinical studies

Etiology

Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354
Louie P, Wilkes R
Soc Sci Med 2018 Apr;202:38-42. Epub 2018 Feb 23 doi: 10.1016/j.socscimed.2018.02.023. PMID: 29501717
Abdel-Malek ZA, Swope VB, Starner RJ, Koikov L, Cassidy P, Leachman S
Arch Biochem Biophys 2014 Dec 1;563:4-12. Epub 2014 Jul 11 doi: 10.1016/j.abb.2014.07.002. PMID: 25017567
Hutton SM, Spritz RA
J Invest Dermatol 2008 Oct;128(10):2442-50. Epub 2008 May 8 doi: 10.1038/jid.2008.109. PMID: 18463683Free PMC Article
Suzuki T, Tomita Y
J Dermatol Sci 2008 Jul;51(1):1-9. Epub 2008 Apr 14 doi: 10.1016/j.jdermsci.2007.12.008. PMID: 18407468

Diagnosis

Bista M , Agrawal S , Agrawal Y
Kathmandu Univ Med J (KUMJ) 2021 Jan.-Mar;19(73):146-147. PMID: 34812175
Żychowska M, Żychowska M
Int J Dermatol 2021 Jul;60(7):818-828. Epub 2020 Dec 15 doi: 10.1111/ijd.15365. PMID: 33319363
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354
Hutton SM, Spritz RA
J Invest Dermatol 2008 Oct;128(10):2442-50. Epub 2008 May 8 doi: 10.1038/jid.2008.109. PMID: 18463683Free PMC Article
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679

Therapy

Jung SE, Kang HY, Lee ES, Kim YC
Am J Dermatopathol 2015 Apr;37(4):289-92. doi: 10.1097/DAD.0000000000000171. PMID: 25072687
Abdel-Malek ZA, Swope VB, Starner RJ, Koikov L, Cassidy P, Leachman S
Arch Biochem Biophys 2014 Dec 1;563:4-12. Epub 2014 Jul 11 doi: 10.1016/j.abb.2014.07.002. PMID: 25017567
Balint GP, Balint PV
Best Pract Res Clin Rheumatol 2004 Oct;18(5):631-45. doi: 10.1016/j.berh.2004.05.002. PMID: 15454123
Dunn JF Jr
Am Fam Physician 1986 May;33(5):137-43. PMID: 3706094
Harben DJ, Cooper PH, Rodman OG
Arch Dermatol 1979 Aug;115(8):973-4. PMID: 111625

Prognosis

Muktupavela RA, Petr M, Ségurel L, Korneliussen T, Novembre J, Racimo F
Elife 2022 Dec 20;11 doi: 10.7554/eLife.73767. PMID: 36537881Free PMC Article
Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354
Jung SE, Kang HY, Lee ES, Kim YC
Am J Dermatopathol 2015 Apr;37(4):289-92. doi: 10.1097/DAD.0000000000000171. PMID: 25072687
Kadekaro AL, Kanto H, Kavanagh R, Abdel-Malek Z
Ann N Y Acad Sci 2003 Jun;994:359-65. doi: 10.1111/j.1749-6632.2003.tb03200.x. PMID: 12851336
Mancini AJ, Chan LS, Paller AS
J Am Acad Dermatol 1998 Feb;38(2 Pt 2):295-300. doi: 10.1016/s0190-9622(98)70568-7. PMID: 9486701

Clinical prediction guides

Kruijt CC, de Wit GC, Bergen AA, Florijn RJ, Schalij-Delfos NE, van Genderen MM
Ophthalmology 2018 Dec;125(12):1953-1960. Epub 2018 Aug 8 doi: 10.1016/j.ophtha.2018.08.003. PMID: 30098354
Guo H, Xiong H, Li Z, Xu J, Zhang H, Chen X, Hu S
Horm Metab Res 2016 Jun;48(6):384-8. Epub 2016 Jan 20 doi: 10.1055/s-0041-111700. PMID: 26788925
Jung SE, Kang HY, Lee ES, Kim YC
Am J Dermatopathol 2015 Apr;37(4):289-92. doi: 10.1097/DAD.0000000000000171. PMID: 25072687
Hutton SM, Spritz RA
J Invest Dermatol 2008 Oct;128(10):2442-50. Epub 2008 May 8 doi: 10.1038/jid.2008.109. PMID: 18463683Free PMC Article
Kumar P, Sharma PK, Gautam RK, Jain RK, Kar HK
Int J Dermatol 2007 May;46(5):492-3. doi: 10.1111/j.1365-4632.2007.03248.x. PMID: 17472679

Recent systematic reviews

Żychowska M, Żychowska M
Int J Dermatol 2021 Jul;60(7):818-828. Epub 2020 Dec 15 doi: 10.1111/ijd.15365. PMID: 33319363

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