vitamin-b-12 and Hyperpigmentation

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.

Topics: ATP-Binding Cassette Transporters; Female; Homozygote; Humans; Hyperpigmentation; Mutation; Nucleocytoplasmic Transport Proteins; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Fatigue; Gastritis; Hand; Humans; Hyperpigmentation; Infusions, Parenteral; Male; Middle Aged; Tongue; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Hand; Humans; Hyperpigmentation; Vitamin B 12; Vitamin B 12 Deficiency

Topics: China; Female; Humans; Hyperpigmentation; Illicit Drugs; Male; Nervous System Diseases; Nitrous Oxide; Retrospective Studies; Substance-Related Disorders; Vitamin B 12; Young Adult

Topics: Humans; Hyperpigmentation; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Child; Humans; Hyperpigmentation; Injections, Intramuscular; Magnetic Resonance Imaging; Male; Paraparesis; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Topics: Humans; Hyperpigmentation; Vitamin B 12; Vitamin B 12 Deficiency

Vitamin B12 (cobalamin) deficiency is common in developing countries. Its dermatologic manifestations include hair and nail changes and glossitis. Cases of generalized hyperpigmentation associated with vitamin B12 deficiency have rarely been reported. Localized hyperpigmentation is less frequently described, affecting palms, soles, and flexural areas. We report a rare case of reversible melasma-like cutaneous hyperpigmentation associated with pernicious anemia and discuss the possible mechanisms of this association.

Topics: Anemia, Pernicious; Diagnosis, Differential; Female; Humans; Hyperpigmentation; Injections, Intramuscular; Magnetic Resonance Imaging; Middle Aged; Vitamin B 12

Topics: Aged; Humans; Hyperpigmentation; Injections, Intramuscular; Male; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency; Vitamins

The physiology of human skin pigmentation is varied and complex, with an extensive melanogenic paracrine network involving mesenchymal and epithelial cells, contributing to the regulation of melanocyte survival and proliferation and melanogenesis. Mutations in several genes, involving predominantly the KIT ligand/c-Kit and Ras/mitogen-activated protein kinase signalling pathways, have been implicated in a spectrum of diseases in which there is hyperpigmentation, hypopigmentation or both. Here, we report on a 12-year-old girl from Taiwan with a 6-year history of diffuse progressive skin hyperpigmentation resulting from a different aetiology: an inborn metabolic disorder of vitamin B12 (cobalamin), designated cblJ. Using whole-exome sequencing we identified a homozygous mutation in ABCD4 (c.423C>G; p.Asn141Lys), which encodes an ATP-binding cassette transporter with a role in the intracellular processing of cobalamin. The patient had biochemical and haematological evidence of cobalamin deficiency but no other clinical abnormalities apart from a slight lightening of her previously black hair. Of note, she had no neurological symptoms or signs. Treatment with oral cobalamin (3 mg daily) led to metabolic correction and some reduction in the skin hyperpigmentation at the 3-month follow-up. This case demonstrates that defects or deficiencies of cobalamin should be remembered in the differential diagnosis of diffuse hyperpigmentary skin disorders.

Topics: ATP-Binding Cassette Transporters; Child; Female; Homozygote; Humans; Hyperpigmentation; Metabolism, Inborn Errors; Mutation; Polymorphism, Single Nucleotide; Vitamin B 12; Vitamin B 12 Deficiency; Vitamin B Complex

Retrospective chart review of 21 infants with infantile tremor syndrome for vitamin B12 deficiency showed low serum vitamin B12 levels in 8/16 (50%). Of the eight infants with normal levels, six had received vitamin B12 before referral. Macrocytosis and low maternal serum B12 was found in 12 and seven cases each. Treatment with vitamin B12 alone produced rapid recovery.

Topics: Breast Feeding; Child, Preschool; Developmental Disabilities; Female; Humans; Hyperpigmentation; India; Infant; Male; Mothers; Retrospective Studies; Syndrome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

The mucocutaneous changes observed during vitamin B12 deficiency in children have been published only as case studies and small case series. In this study, we aimed to demonstrate the frequency of mucocutaneous changes (particularly hyperpigmentation) seen during vitamin B12 deficiency and resolving time of these symptoms with vitamin B12 treatment.. This prospective study was conducted at the pediatrics outpatient clinic of Harran and Yuzuncu Yil University Faculty of Medicine, among 57 patients, aged between 6 and 24 months, who were diagnosed with vitamin B12 deficiency following various examinations and tests. A detailed examination was performed in respect to skin and mucosal findings. Patients with vitamin B12 deficiency were administered intramuscular cyanocobalamin. Prospective examination was continued, and resolving time of symptoms after treatment was recorded.. The mean age of the patients enrolled in the study was found to be 12.75 ± 4.75. Hyperpigmentation was reported in 49 (85.96%) patients enrolled in the study; atrophic glossitis in 40 (70.17%), brittle and matt hair in 13 (22.80%), skin lesions (particularly diaper dermatitis) in eight (15.78%) and cheilosis in four (7.01%) patients. Three months after the treatment initiation, hyperpigmentation improved in 87.75%, atrophic glossitis in 97.5% and brittle and matt hair in 92.3% of the patients. Five patients (8.77%) with continuing pigmentation by the end of sixth months were considered as nonresponsive to the treatment.. Deficiency of vitamin B12 should be considered in the differential diagnosis of infants who present with skin and mucosal lesions.

Topics: Cheilitis; Diagnosis, Differential; Dose-Response Relationship, Drug; Drug Administration Schedule; Glossitis; Humans; Hyperpigmentation; Infant; Injections, Intramuscular; Prospective Studies; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Anemia, Megaloblastic; Child, Preschool; Female; Foot; Hand; Humans; Hyperpigmentation; Malabsorption Syndromes; Proteinuria; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Adolescent; Anemia, Pernicious; Humans; Hyperpigmentation; Male; Vitamin B 12; Vitamin B Complex

Topics: Anemia, Pernicious; Humans; Hyperpigmentation; Male; Middle Aged; Time Factors; Treatment Outcome; Vitamin B 12; Vitamin B Complex

Topics: Breast Feeding; Female; Humans; Hyperpigmentation; Infant; Maternal Nutritional Physiological Phenomena; Methylmalonic Acid; Muscle Hypotonia; Treatment Outcome; Vitamin B 12; Vitamin B 12 Deficiency

Topics: Adult; Diagnosis, Differential; Female; Foot; Hand; Humans; Hyperpigmentation; Vitamin B 12; Vitamin B 12 Deficiency

A 14 year male adolescent born of 2nd degree consanguineous marriage presented with asymptomatic proteinuria and severe anemia. He had leucopenia, anisopoikilocytosis, megaloblastic erythropoiesis, megakaryocytes with low serum B12 level. His younger sibling was similarly affected. This combination suggested Imerslund-Grasbeck syndrome. The hemoglobin levels improved with injection of vitamin B12 but proteinuria persisted. During follow-up, he developed ketoacidosis due to insulin dependent diabetes mellitus. This rare combination has not been reported in the Indian literature.

Topics: Adolescent; Anemia, Megaloblastic; Child; Diabetes Mellitus, Type 1; Failure to Thrive; Humans; Hyperpigmentation; Intestinal Absorption; Malabsorption Syndromes; Male; Mutation, Missense; Prevalence; Risk Factors; Syndrome; Vitamin B 12; Vitamin B 12 Deficiency

The authors describe a 16-month-old infant presenting with neurologic developmental regression, severe pancytopenia, excessive skin pigmentation, and tremor resulting from nutritional vitamin B12 deficiency. She had been exclusively breast-fed and had refused to take any other food. Laboratory studies showed severe pancytopenia, a decrease in serum B12 levels, and an increase in urinary methylmalonic acid levels. Bone marrow aspiration was compatible with megaloblastic changes. Schilling test was normal. The serum B12 level of the mother was also low. Megaloblastic anemia resulting from inadequate B12 intake was diagnosed. Parenteral B12 therapy was initiated. The neurologic picture did not completely resolve, but pancytopenia, tremor, and hyperpigmentation of the extremities recovered completely.

Topics: Anemia, Megaloblastic; Female; Humans; Hyperpigmentation; Infant; Pancytopenia; Treatment Outcome; Tremor; Vitamin B 12; Vitamin B 12 Deficiency

We describe an interesting case of a man with recurrent cutaneous and hematologic manifestations of vitamin B12 deficiency. In this deficiency, the skin, central nervous system, blood, and blood-forming tissues are commonly involved. We describe an overview of vitamin B12 deficiency and the successful treatment of a patient's ongoing cutaneous hyperpigmentation.

Topics: Humans; Hyperpigmentation; Male; Middle Aged; Recurrence; Vitamin B 12; Vitamin B 12 Deficiency