Reversible ecchymosis and hyperpigmented lesions: A rare presentation of dietary Vitamin B12 deficiency

Pahadiya, Hans Raj; Lakhotia, Manoj; Choudhary, Sukhdev; Prajapati, Gopal Raj; Pradhan, Sangeeta

doi:10.4103/2249-4863.192343

Cited by 5 publications

(3 citation statements)

References 5 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…3 Skin manifestations of vitamin B12 deficiency are hyperpigmentation, vitiligo, angular glossitis and scanty hypopigmented hairs which reverses after vitamin B12 treatment. 4,5 Similar case has been reported by Pahadiya HR et al 6 Deficiency of vitamin B12 may cause bleeding and platelet qualitative defect which is alarming, but was not present in the case discussed here. 7…”

Section: Discussionsupporting

confidence: 82%

Reversible Hyperpigmentation: A Diagnostic Dilemma

2021

View full text Add to dashboard Cite

Vitamin B12 deficiency presents as megaloblastic anemia with neurological, skin and other clinical manifestations. We present here an interesting case of anemia presenting with generalized weakness and nonspecific symptoms in a female who is a vegetarian. There was acral hyperpigmentation without any other clinical features, Investigations revealed megaloblastic anemia with low vitamin B12 and normal RBC folate levels. The patient improved after blood transfusion and intramuscular vitamin B12 injections and the skin lesions faded away suggesting vitamin B12 deficiency to be the cause of hyperpigmentation, which is an uncommon manifestation. The importance lies in the fact that this cause of reversible hyperpigmentation should be thought of by clinicians to start prompt treatment.

show abstract

Section: Discussionsupporting

confidence: 82%

Reversible Hyperpigmentation: A Diagnostic Dilemma

2021

View full text Add to dashboard Cite

show abstract

“…After 14 days of treatment, comprising a parenteral dose of cobalamin (1000 mg/week hydroxocobalamin administered intramuscularly over 30 days) and 1 mg of folic acid daily for 30 days, the lesions had completely disappeared, as had all other symptoms. A rare presentation of dietary Vitamin B 12 deficiency anemia was reported by Pahadiya et al [ 26 ]. A 40-year-old male presented a generalized weakness, fatigability, and hyperpigmentation with ecchymosis.…”

Section: Vitamin B 12 and Anemiamentioning

confidence: 99%

A Brief Review on Vitamin B12 Deficiency Looking at Some Case Study Reports in Adults

Azzini¹,

Raguzzini²,

Polito³

2021

IJMS

View full text Add to dashboard Cite

In the era of evidence-based medicine, the randomized clinical trial corresponds to the top step in the qualitative scale of the evidence available in the literature, while small series of cases or the description of individual cases occupy the last place. However, the latter represent an important part of clinical practice and have significantly influenced the evolution of medicine, contributing significantly to the advancement of scientific knowledge. Vitamin B12 deficiency shares several common symptoms that affect several tissues and organs with health aliments, so its diagnosis could be unobvious for the broad array of its effects and investigation methods used. In this review, we focused our attention on some case reports related to the vitamin B12 deficiency associated to anemia, neurologic disorders, and hyperhomocysteinemia. B12 deficiency reversal is simply achieved by prompt therapy, even though it is not the same for several disorders.

show abstract

“…Refs. [22][23][24]. Hyperpigmentation has not been noted in any of the 16 patients with LMBD1 deficiency (5, 16 -19), although some patients had skin rash or eczema.…”

mentioning

confidence: 99%

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1

Fettelschoss

Burda

Sagné

et al. 2017

Journal of Biological Chemistry

View full text Add to dashboard Cite

Vitamin B (cobalamin (Cbl)), in the cofactor forms methyl-Cbl and adenosyl-Cbl, is required for the function of the essential enzymes methionine synthase and methylmalonyl-CoA mutase, respectively. Cbl enters mammalian cells by receptor-mediated endocytosis of protein-bound Cbl followed by lysosomal export of free Cbl to the cytosol and further processing to these cofactor forms. The integral membrane proteins LMBD1 and ABCD4 are required for lysosomal release of Cbl, and mutations in the genes and result in the cobalamin metabolism disorders cblF and cblJ. We report a new (fifth) patient with the cblJ disorder who presented at 7 days of age with poor feeding, hypotonia, methylmalonic aciduria, and elevated plasma homocysteine and harbored the mutations c.1667_1668delAG [p.Glu556Glyfs*27] and c.1295G>A [p.Arg432Gln] in the gene. Cbl cofactor forms are decreased in fibroblasts from this patient but could be rescued by overexpression of either ABCD4 or, unexpectedly, LMBD1. Using a sensitive live-cell FRET assay, we demonstrated selective interaction between ABCD4 and LMBD1 and decreased interaction when ABCD4 harbored the patient mutations p.Arg432Gln or p.Asn141Lys or when artificial mutations disrupted the ATPase domain. Finally, we showed that ABCD4 lysosomal targeting depends on co-expression of, and interaction with, LMBD1. These data broaden the patient and mutation spectrum of cblJ deficiency, establish a sensitive live-cell assay to detect the LMBD1-ABCD4 interaction, and confirm the importance of this interaction for proper intracellular targeting of ABCD4 and cobalamin cofactor synthesis.

show abstract

Reversible ecchymosis and hyperpigmented lesions: A rare presentation of dietary Vitamin B12 deficiency

Cited by 5 publications

References 5 publications

Reversible Hyperpigmentation: A Diagnostic Dilemma

Reversible Hyperpigmentation: A Diagnostic Dilemma

A Brief Review on Vitamin B12 Deficiency Looking at Some Case Study Reports in Adults

Clinical or ATPase domain mutations in ABCD4 disrupt the interaction between the vitamin B12-trafficking proteins ABCD4 and LMBD1

Contact Info

Product

Resources

About