Cobalamin F deficiency in a girl with severe skin hyperpigmentation and a homozygous LMBRD1 variant

Clin Exp Dermatol. 2022 Apr;47(4):812-815. doi: 10.1111/ced.15046. Epub 2021 Dec 27.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • ATP-Binding Cassette Transporters / genetics
  • Female
  • Homozygote
  • Humans
  • Hyperpigmentation* / genetics
  • Mutation
  • Nucleocytoplasmic Transport Proteins / genetics
  • Nucleocytoplasmic Transport Proteins / metabolism
  • Vitamin B 12 / therapeutic use
  • Vitamin B 12 Deficiency* / complications

Substances

  • ABCD4 protein, human
  • ATP-Binding Cassette Transporters
  • LMBRD1 protein, human
  • Nucleocytoplasmic Transport Proteins
  • Vitamin B 12