Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

Lama Altawil; Hind Alshihry; Hala Ahmed; Hanan E Shamseldin; Fowzan Alkuraya

doi:10.1016/j.jdcr.2020.07.011

Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

JAAD Case Rep. 2020 Jul 11;6(9):882-885. doi: 10.1016/j.jdcr.2020.07.011. eCollection 2020 Sep.

Authors

Lama Altawil¹, Hind Alshihry¹, Hala Ahmed², Hanan E Shamseldin^{3

4}, Fowzan Alkuraya^{3

4}

Affiliations

¹ Department of Dermatology and Dermatologic Surgery, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
² Department of Hematology, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.
³ Department of Genetics, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia.
⁴ Department of Pediatrics, Prince Sultan Military Medical City, Riyadh, Saudi Arabia.

No abstract available

Keywords: CblF, cobalamin F; LMBRD1; WES, whole exome sequencing; cobalamin F; congenita; dyskeratosis; dyspigmentation; genodermatosis; vitamin B12.

Publication types

Case Reports