RESUMEN

Cobalamin (vitamin B12) is important in gastrulation, nervous system development and haemoglobin formation. Mutations of the ABCD4 or LMBRD1 genes can lead to cobalamin-related disorders. We report a patient with disseminated skin hyperpigmentation caused by a homozygous LMBRD1 variant. Genetic disorders of cobalamin metabolism caused by variants in the ABCD4 or LMBRD1 genes should be considered in patients presenting with cutaneous hyperpigmentation. Click https://www.wileyhealthlearning.com/#/online-courses/a6ef1275-8325-4834-89d2-aa18fa31e63f for the corresponding questions to this CME article.

Asunto(s)

Hiperpigmentación , Deficiencia de Vitamina B 12 , Transportadoras de Casetes de Unión a ATP/genética , Femenino , Homocigoto , Humanos , Hiperpigmentación/genética , Mutación , Proteínas de Transporte Nucleocitoplasmático/genética , Proteínas de Transporte Nucleocitoplasmático/metabolismo , Vitamina B 12/uso terapéutico , Deficiencia de Vitamina B 12/complicaciones