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Partial albinism

MedGen UID:
1847660
Concept ID:
C5848166
Congenital Abnormality
Synonyms: Albinism, Cutaneous; Cutaneous Albinism
SNOMED CT: Partial albinism (6479008)
 
HPO: HP:0007443

Definition

Absence of melanin pigment in various areas, which is found at birth and is permanent. The lesions are known as leucoderma and are often found on the face, trunk, or limbs. [from HPO]

Term Hierarchy

Conditions with this feature

Professional guidelines

PubMed

Durandy A, Breton-Gorius J, Guy-Grand D, Dumez C, Griscelli C
Prenat Diagn 1993 Jan;13(1):13-20. doi: 10.1002/pd.1970130104. PMID: 8446567

Recent clinical studies

Etiology

Maimaris J, Roa-Bautista A, Sohail M, Booth C, Cugno C, Chenchara L, Omran TB, Hacohen Y, Lim M, Gilmour K, Griffiths G, Rao K, Elfeky R, Kusters M
J Clin Immunol 2024 Nov 28;45(1):50. doi: 10.1007/s10875-024-01842-2. PMID: 39607447Free PMC Article
Tajik S, Fazlollahi MR, Alizadeh Z, Badalzadeh M, Houshmand M, Razaghian A, Bahram S, Molitor A, Carapito R, Shariat M, Hamidieh AA, Behniafard N, Abdolkarimi B, Rostami T, Moin M, Pourpak Z
Pediatr Allergy Immunol 2024 Nov;35(11):e14264. doi: 10.1111/pai.14264. PMID: 39485047
Campbell P, Ellingford JM, Parry NRA, Fletcher T, Ramsden SC, Gale T, Hall G, Smith K, Kasperaviciute D, Thomas E, Lloyd IC, Douzgou S, Clayton-Smith J, Biswas S, Ashworth JL, Black GCM, Sergouniotis PI
Sci Rep 2019 Nov 12;9(1):16576. doi: 10.1038/s41598-019-51768-8. PMID: 31719542Free PMC Article
Al-Herz W, Nanda A
Pediatr Dermatol 2011 Sep-Oct;28(5):494-501. Epub 2011 Mar 31 doi: 10.1111/j.1525-1470.2011.01409.x. PMID: 21453308
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C
J Pediatr 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7. PMID: 7996360

Diagnosis

Tajik S, Fazlollahi MR, Alizadeh Z, Badalzadeh M, Houshmand M, Razaghian A, Bahram S, Molitor A, Carapito R, Shariat M, Hamidieh AA, Behniafard N, Abdolkarimi B, Rostami T, Moin M, Pourpak Z
Pediatr Allergy Immunol 2024 Nov;35(11):e14264. doi: 10.1111/pai.14264. PMID: 39485047
Dotta L, Parolini S, Prandini A, Tabellini G, Antolini M, Kingsmore SF, Badolato R
Orphanet J Rare Dis 2013 Oct 17;8:168. doi: 10.1186/1750-1172-8-168. PMID: 24134793Free PMC Article
Rath S, Jain V, Marwaha RK, Trehan A, Rajesh LS, Kumar V
Indian J Pediatr 2004 Feb;71(2):173-5. doi: 10.1007/BF02723104. PMID: 15053385
Gupta PR, Chowdhary SK, Joshi K, Shukla R, Rao KL
Indian J Pediatr 2002 May;69(5):447-9. doi: 10.1007/BF02722641. PMID: 12061683
Kumar P, Rao KS, Shashikala P, Chandrashekar HR, Banapurmath CR
Indian J Pediatr 2000 Aug;67(8):595-7. doi: 10.1007/BF02758492. PMID: 10985003

Therapy

Mehdizadeh M, Zamani G
Pediatr Hematol Oncol 2007 Oct-Nov;24(7):525-9. doi: 10.1080/08880010701533793. PMID: 17786788
Aslan D, Sari S, Derinöz O, Dalgiç B
Pediatr Hematol Oncol 2006 Apr-May;23(3):255-61. doi: 10.1080/08880010500506909. PMID: 16517541
Kumar P, Rao KS, Shashikala P, Chandrashekar HR, Banapurmath CR
Indian J Pediatr 2000 Aug;67(8):595-7. doi: 10.1007/BF02758492. PMID: 10985003
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C
J Pediatr 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7. PMID: 7996360
Barak Y, Nir E
Am J Pediatr Hematol Oncol 1987 Spring;9(1):42-55. doi: 10.1097/00043426-198721000-00008. PMID: 3296821

Prognosis

Maimaris J, Roa-Bautista A, Sohail M, Booth C, Cugno C, Chenchara L, Omran TB, Hacohen Y, Lim M, Gilmour K, Griffiths G, Rao K, Elfeky R, Kusters M
J Clin Immunol 2024 Nov 28;45(1):50. doi: 10.1007/s10875-024-01842-2. PMID: 39607447Free PMC Article
Al-Herz W, Nanda A
Pediatr Dermatol 2011 Sep-Oct;28(5):494-501. Epub 2011 Mar 31 doi: 10.1111/j.1525-1470.2011.01409.x. PMID: 21453308
Kumar P, Rao KS, Shashikala P, Chandrashekar HR, Banapurmath CR
Indian J Pediatr 2000 Aug;67(8):595-7. doi: 10.1007/BF02758492. PMID: 10985003
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
Klein C, Philippe N, Le Deist F, Fraitag S, Prost C, Durandy A, Fischer A, Griscelli C
J Pediatr 1994 Dec;125(6 Pt 1):886-95. doi: 10.1016/s0022-3476(05)82003-7. PMID: 7996360

Clinical prediction guides

Tajik S, Fazlollahi MR, Alizadeh Z, Badalzadeh M, Houshmand M, Razaghian A, Bahram S, Molitor A, Carapito R, Shariat M, Hamidieh AA, Behniafard N, Abdolkarimi B, Rostami T, Moin M, Pourpak Z
Pediatr Allergy Immunol 2024 Nov;35(11):e14264. doi: 10.1111/pai.14264. PMID: 39485047
Mohammed M, Al-Hashmi N, Al-Rashdi S, Al-Sukaiti N, Al-Adawi K, Al-Riyami M, Al-Maawali A
Eur J Med Genet 2019 Nov;62(11):103583. Epub 2018 Nov 22 doi: 10.1016/j.ejmg.2018.11.017. PMID: 30472485
Al-Herz W, Nanda A
Pediatr Dermatol 2011 Sep-Oct;28(5):494-501. Epub 2011 Mar 31 doi: 10.1111/j.1525-1470.2011.01409.x. PMID: 21453308
Ramalho JS, Tolmachova T, Hume AN, McGuigan A, Gregory-Evans CY, Huxley C, Seabra MC
BMC Genet 2001;2:2. Epub 2001 Feb 2 doi: 10.1186/1471-2156-2-2. PMID: 11178108Free PMC Article
Zlotogora J, Lerer I, Bar-David S, Ergaz Z, Abeliovich D
Am J Hum Genet 1995 May;56(5):1173-8. PMID: 7726174Free PMC Article

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