Literature DB >> 21991215

Two cases of burns in children from French Guinea with oculocutaneous albinism.

A Valente1, E Caleffi.   

Abstract

Oculocutaneous albinism is an autosomal recessive disorder. It is associated with a disorder in the synthesis of melanin pigment, clearly manifested by the absence of colour in the skin, iris, and hair. In addition to its importance for a person's physical appearance, melanin plays a protective role with regard to solar radiation: its absence exposes the skin to a greater risk of related photogenic injury. The two young patients reported, suffering from oculocutaneous albinism, developed first- and second-degree superficial burns after a few hours of exposure to the sun.

Entities:  

Keywords:  BURNS; NYSTAGMUS; OCA; OCULOCUTANEOUS ALBINISM; SOUTH AFRICA

Year:  2010        PMID: 21991215      PMCID: PMC3188262     

Source DB:  PubMed          Journal:  Ann Burns Fire Disasters        ISSN: 1592-9558


  11 in total

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Journal:  Hum Mutat       Date:  2000       Impact factor: 4.878

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Journal:  Clin Genet       Date:  1989-07       Impact factor: 4.438

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Journal:  Ann Hum Biol       Date:  2005 Mar-Apr       Impact factor: 1.533

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Authors:  P Manga; J Kromberg; A Turner; T Jenkins; M Ramsay
Journal:  Am J Hum Genet       Date:  2001-02-09       Impact factor: 11.025

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Authors:  A N Okoro
Journal:  Br J Dermatol       Date:  1975-05       Impact factor: 9.302

9.  An intragenic deletion of the P gene is the common mutation causing tyrosinase-positive oculocutaneous albinism in southern African Negroids.

Authors:  G Stevens; J van Beukering; T Jenkins; M Ramsay
Journal:  Am J Hum Genet       Date:  1995-03       Impact factor: 11.025

10.  Albinism in Africa as a public health issue.

Authors:  Esther S Hong; Hajo Zeeb; Michael H Repacholi
Journal:  BMC Public Health       Date:  2006-08-17       Impact factor: 3.295

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