Oculocutaneous albinism

J. F. Okulicz; R. S. Shah; R. A. Schwartz; C. K. Janniger

doi:10.1046/j.1468-3083.2003.00767.x

Oculocutaneous albinism

J. F. Okulicz, R. S. Shah, R. A. Schwartz, C. K. Janniger

Research output: Contribution to journal › Review article › peer-review

64 Scopus citations

Abstract

Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.

Original language	English
Pages (from-to)	251-256
Number of pages	6
Journal	Journal of the European Academy of Dermatology and Venereology
Volume	17
Issue number	3
DOIs	https://doi.org/10.1046/j.1468-3083.2003.00767.x
State	Published - May 2003
Externally published	Yes

Keywords

Genetic disease
Oculocutaneous albinism
Pigment disorder

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10.1046/j.1468-3083.2003.00767.x

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title = "Oculocutaneous albinism",

abstract = "Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.",

keywords = "Genetic disease, Oculocutaneous albinism, Pigment disorder",

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year = "2003",

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AU - Okulicz, J. F.

AU - Shah, R. S.

AU - Schwartz, R. A.

AU - Janniger, C. K.

PY - 2003/5

Y1 - 2003/5

N2 - Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.

AB - Oculocutaneous albinism represents a group of inherited skin disorders characterized by a generalized reduction of cutaneous, ocular and pilar pigmentation from the time of birth. Oculocutaneous albinism types 1 and 2 are the most common, but several other types have been described. A defect in the melanin synthesis pathway, resulting in reduced formation of melanin, is responsible for oculocutaneous albinism. Aetiology, clinical manifestations, diagnosis and management are discussed.

KW - Genetic disease

KW - Oculocutaneous albinism

KW - Pigment disorder

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DO - 10.1046/j.1468-3083.2003.00767.x

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JF - Journal of the European Academy of Dermatology and Venereology

IS - 3

ER -

Oculocutaneous albinism

Abstract

Keywords

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