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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
Oculocutaneous albinism is a group of conditions that affect coloring (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. Oculocutaneous 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); and increased sensitivity to light (photophobia).\n\nSeveral additional types of this disorder have been proposed, each affecting one or a few families.\n\nResearchers 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 a creamy white color and hair may be light yellow, blond, or light brown. Type 3 includes a form of albinism called rufous oculocutaneous albinism, which usually affects dark-skinned people. Affected individuals have 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 with type 2.

Professional guidelines

PubMed

Park SY, Green AR, Hadi R, Doolittle-Amieva C, Gardner J, Moshiri AS
J Immunother Cancer 2022 Oct;10(10) doi: 10.1136/jitc-2022-005257. PMID: 36307152Free PMC Article
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
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

Chu CN, Hu KC, Wu RS, Bau DT
BMC Cancer 2021 Mar 31;21(1):330. doi: 10.1186/s12885-021-08047-5. PMID: 33789613Free 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
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
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

Aoki N, Sano H, Nakajima K, Sano S, Nakai K
Acta Dermatovenerol Croat 2024 Mar;32(1):73-74. PMID: 38946191
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
Jung SE, Kang HY, Lee ES, Kim YC
Am J Dermatopathol 2015 Apr;37(4):289-92. doi: 10.1097/DAD.0000000000000171. PMID: 25072687

Therapy

Gan EY, Gahat T, Cario-André M, Seneschal J, Ezzedine K, Taïeb A
Br J Dermatol 2016 Sep;175(3):555-60. Epub 2016 Aug 6 doi: 10.1111/bjd.14635. PMID: 27037527
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
Harben DJ, Cooper PH, Rodman OG
Arch Dermatol 1979 Aug;115(8):973-4. PMID: 111625

Prognosis

Dong R, Jin Q, Zhi J, Luo Y, Yuan J, Pi L, Nan M, Jin Z, Jin C
J Cosmet Dermatol 2023 Jun;22(6):1835-1843. Epub 2023 Jan 31 doi: 10.1111/jocd.15645. PMID: 36718821
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

Clinical prediction guides

Aoki N, Sano H, Nakajima K, Sano S, Nakai K
Acta Dermatovenerol Croat 2024 Mar;32(1):73-74. PMID: 38946191
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
Gan EY, Gahat T, Cario-André M, Seneschal J, Ezzedine K, Taïeb A
Br J Dermatol 2016 Sep;175(3):555-60. Epub 2016 Aug 6 doi: 10.1111/bjd.14635. PMID: 27037527
Jung SE, Kang HY, Lee ES, Kim YC
Am J Dermatopathol 2015 Apr;37(4):289-92. doi: 10.1097/DAD.0000000000000171. PMID: 25072687
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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