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Partial albinism

MedGen UID:
1053316
Concept ID:
CN376786
Finding
Synonyms: Congenital partial albinism on face, trunk, or limbs; Congenital partial leucoderma; Partial absent skin pigmentation
 
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

Waardenburg syndrome type 3
MedGen UID:
86948
Concept ID:
C0079661
Disease or Syndrome
Waardenburg syndrome type 3 is an auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; presence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi; and upper limb abnormalities (reviews by Read and Newton, 1997 and Pingault et al., 2010). WS type 3 is also referred to as 'Klein-Waardenburg syndrome' (Gorlin et al., 1976). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Type I Waardenburg syndrome (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type II (WS2) is distinguished from type I by the absence of dystopia canthorum. WS type III has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type IV (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010).
Piebaldism
MedGen UID:
36361
Concept ID:
C0080024
Congenital Abnormality
Piebaldism is a rare autosomal dominant trait characterized by the congenital absence of melanocytes in affected areas of the skin and hair. A white forelock of hair, often triangular in shape, may be the only manifestation, or both the hair and the underlying forehead may be involved. The eyebrows and eyelashes may be affected. Irregularly shaped white patches may be observed on the face, trunk, and extremities, usually in a symmetrical distribution. Typically, islands of hyperpigmentation are present within and at the border of depigmented areas (summary by Thomas et al., 2004).
Oculocutaneous albinism type 3
MedGen UID:
87450
Concept ID:
C0342683
Disease or Syndrome
Several additional types of this disorder have been proposed, each affecting one or a few families.\n\nOculocutaneous 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\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.
Waardenburg syndrome type 1
MedGen UID:
376211
Concept ID:
C1847800
Disease or Syndrome
Waardenburg syndrome type I (WS1) is an auditory-pigmentary disorder comprising congenital sensorineural hearing loss and pigmentary disturbances of the iris, hair, and skin along with dystopia canthorum (lateral displacement of the inner canthi). The hearing loss in WS1, observed in approximately 60% of affected individuals, is congenital, typically non-progressive, either unilateral or bilateral, and sensorineural. Most commonly, hearing loss in WS1 is bilateral and profound (>100 dB). The majority of individuals with WS1 have either a white forelock or early graying of the scalp hair before age 30 years. The classic white forelock observed in approximately 45% of individuals is the most common hair pigmentation anomaly seen in WS1. Affected individuals may have complete heterochromia iridium, partial/segmental heterochromia, or hypoplastic or brilliant blue irides. Congenital leukoderma is frequently seen on the face, trunk, or limbs.
Waardenburg syndrome type 2A
MedGen UID:
349786
Concept ID:
C1860339
Disease or Syndrome
Waardenburg syndrome type 2 (WS2) is an autosomal dominant auditory-pigmentary syndrome characterized by pigmentary abnormalities of the hair, skin, and eyes; congenital sensorineural hearing loss; and the absence of 'dystopia canthorum,' the lateral displacement of the ocular inner canthi, which is seen in some other forms of WS (reviews by Read and Newton, 1997 and Pingault et al., 2010). Clinical Variability of Waardenburg Syndrome Types 1-4 Waardenburg syndrome has been classified into 4 main phenotypes. Waardenburg syndrome type 1 (WS1; 193500) is characterized by pigmentary abnormalities of the hair, including a white forelock and premature graying; pigmentary changes of the iris, such as heterochromia iridis and brilliant blue eyes; congenital sensorineural hearing loss; and 'dystopia canthorum.' WS type 2 (WS2) is distinguished from type 1 by the absence of dystopia canthorum. WS type 3 (WS3; 148820) has dystopia canthorum and is distinguished by the presence of upper limb abnormalities. WS type 4 (WS4; 277580), also known as Waardenburg-Shah syndrome, has the additional feature of Hirschsprung disease (reviews by Read and Newton, 1997 and Pingault et al., 2010). Genetic Heterogeneity of Waardenburg Syndrome Type 2 Waardenburg syndrome type 2 is a genetically heterogeneous disorder. WS2B (600193) has been mapped to chromosome 1p. WS2C (606662) has been mapped to chromosome 8p23. WS2E (611584) is caused by mutation in the SOX10 gene (602229) on chromosome 22q13. WS2F (619947) is caused by mutation in the KITLG gene (184745) on chromosome 12q21. A form of WS2, designated WS2D, was thought to be caused by deletion of the SNAI2 gene (602150.0001), but the deletion has been reclassified as a variant of unknown significance.
Hermansky-Pudlak syndrome 6
MedGen UID:
854714
Concept ID:
C3888007
Disease or Syndrome
Hermansky-Pudlak syndrome (HPS) is characterized by oculocutaneous albinism, a bleeding diathesis, and, in some individuals, pulmonary fibrosis, granulomatous colitis, or immunodeficiency. Ocular findings include reduced iris pigment with iris transillumination, reduced retinal pigment, foveal hypoplasia with significant reduction in visual acuity (usually in the range of 20/50 to 20/400), nystagmus, and increased crossing of the optic nerve fibers. Hair color ranges from white to brown; skin color ranges from white to olive and is usually a shade lighter than that of other family members. The bleeding diathesis can result in variable bruising, epistaxis, gingival bleeding, postpartum hemorrhage, colonic bleeding, and prolonged bleeding with menses or after tooth extraction, circumcision, and other surgeries. Pulmonary fibrosis, a restrictive lung disease, typically causes symptoms in the early thirties and can progress to death within a decade. Granulomatous colitis is severe in about 15% of affected individuals. Neutropenia and/or immune defects occur primarily in individuals with pathogenic variants in AP3B1 and AP3D1.

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

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
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
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
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

Diagnosis

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
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
Shiflett SL, Kaplan J, Ward DM
Pigment Cell Res 2002 Aug;15(4):251-7. doi: 10.1034/j.1600-0749.2002.02038.x. PMID: 12100490
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

Hamidieh AA, Pourpak Z, Yari K, Fazlollahi MR, Hashemi S, Behfar M, Moin M, Ghavamzadeh A
Pediatr Transplant 2013 Aug;17(5):487-91. Epub 2013 May 29 doi: 10.1111/petr.12092. PMID: 23714271
Mehdizadeh M, Zamani G
Pediatr Hematol Oncol 2007 Oct-Nov;24(7):525-9. doi: 10.1080/08880010701533793. PMID: 17786788
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

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
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

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
Menasche G, Feldmann J, Houdusse A, Desaymard C, Fischer A, Goud B, de Saint Basile G
Blood 2003 Apr 1;101(7):2736-42. Epub 2002 Nov 21 doi: 10.1182/blood-2002-09-2789. PMID: 12446441
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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