Vitamin B12 deficiency secondary to cobalamin F deficiency simulating dyskeratosis congenita

by Lama Altawil, MD, Hind Alshihry, MD, Hala Ahmed, MD, Hanan E. Shamseldin, MD, Fowzan Alkuraya, MD
Published 2020-09-01

Progressive symmetrical erythrokeratoderma manifesting as harlequin-like ichthyosis with severe thrombocytopenia secondary to a homozygous 3-ketodihydrosphingosine reductase mutati...

by Lama Altawil, MD, Hind Alshihry, MD, Huda Alfaraidi, MD, Amal Alhashem, MD, Ahmed Alhumidi, MD, Fowzan S. Alkuraya, MD
Published 2021-08-01