Cunha, F

Furtado, F

Kjöllerström, P

Machado, R

Raquel Machado

Filipa Furtado

Paula Kjöllerström

Florbela Cunha

Crossref

British Journal of Haematology

Cutaneous hyperpigmentation and cobalamin deficiency

Repositório Comum

Cutaneous hyperpigmentation and cobalamin deficiencyAn exclusively breastfed five-month-old female was referredwith anaemia, pallor and hyperpigmented genitalia andinner thighs (top). She was also lethargic, irritable andshowed failure to thrive. Laboratory studies revealed amacrocytic anaemia with haemoglobin concentration (Hb)73 g/l (normal range 95‒140), mean corpuscular volume(MCV) 104 fl (85–97) and neutropenia 052 9 109/l (10‒56). The blood film showed macrocytosis, rare poikilo-cytes and neutropenia. Serum vitamin B12 was unde-tectable, with high plasma homocysteine [788 lmol/l(37–139 lmol/l)]) and negative anti-parietal cell andanti-intrinsic factor antibodies. Her mother’s laboratoryevaluation showed Hb 132 g/l (115–150), MCV 936 fl(80–97) and undetectable serum vitamin B12, with anti-bodies to parietal cells and intrinsic factor being detected.Intramuscular* hydroxocobalamin was started, with pro-gressive haematological and clinical improvement. Theinfant’s vitamin B12 level was normal on follow-up evalua-tion 2 months after diagnosis and the hyperpigmentationgradually improved (bottom).Early diagnosis of neonatal B12 deficiency is very importantas infants can develop severe neurological sequelae. Mothersare frequently asymptomatic and nonspecific clinical findingsare easily overlooked. Cobalamin deficiency affects all agegroups and multiple systems, namely the bone marrow andthe gastrointestinal and nervous systems. Mucocutaneous signsare less common but can predate other manifestations. In fact,this deficiency must be considered in the differential diagnosisof cutaneous hyperpigmentation. Treatment usually reversesthe abnormalities, but some may persist.Raquel Machado1, Filipa Furtado1,2, Paula Kj€ollerstr€om2and Florbela Cunha11Paediatric Department, Hospital Vila Franca de Xira, Vila Franca deXira, Portugal and 2Paediatric Haematology Unit, Hospital de DonaEstefa^nia – Centro Hospitalar de Lisboa Central, Lisbon, Portugal.E-mail: raquel.candido.machado@gmail.com*[Correction added on 25 August 2016, after first online publication:“Intravenous” was corrected to “Intramuscular”]images in haematologyFirst published online 19 July 2016doi: 10.1111/bjh.14242ª 2016 John Wiley & Sons LtdBritish Journal of Haematology, 2016, 174, 834

English

Repository of the Hospital Center of Central Lisbon

Cutaneous Hyperpigmentation and Cobalamin Deficiency

Repositório da Unidade Local de Saúde São José

https://comum.rcaap.pt/bitstream/10400.26/15174/1/Machado_et_al-2016-British_Journal_of_Haematology.pdf

Cutaneous Hyperpigmentation and Cobalamin Deficiency

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Repositório Comum

Repository of the Hospital Center of Central Lisbon

Repositório da Unidade Local de Saúde São José