A case study of severe vitamin C deficiency presenting with uncommon symptoms.
A four-year-old First Nations Australian boy presented to his dentist with speech regression, a two-week history of right buccal swelling and periorbital bruising.
Following drainage of an oral abscess and appropriate antibiotic treatment, little improvement was seen and he was referred for hospital admission.
He also developed a generalised petechial rash two days before presentation.
Despite previously meeting motor development milestones, he had developed atraumatic lower limb swelling and reduced weight bearing over the previous month. His five siblings were unaffected.
On examination, he had thin hair, weighed 14.5kg – the third centile for his age – and had bilateral infraorbital ecchymoses. No fever was present.
Oral examination showed poor dentition, generalised gum inflammation and a 4cm growth in the right buccal vestibule. He also had widespread rough, keratotic papules and petechiae on the trunk and limbs. Dermoscopy showed corkscrew hairs.
The patient had a profoundly restricted diet due to textural aversions, reportedly consisting solely of chicken nuggets and chocolate milk since age two.
Serum testing revealed a vitamin C level below 5umol/L (reference 40–100umol/L).
He had iron deficiency anaemia, with a haemoglobin of 64g/dL (reference 110–139g/dL), iron saturation of 5% (reference 15%–45%) and folate of 2.7nmol/L (reference 7–46.4nmol/L).
He had a selenium level of 8umol/L (reference 9.2–18.4nmol/L) and zinc 0.78umol/L (reference 0.89–1.9umol/L), though vitamins A, D and E were within their reference ranges.
Femoral imaging demonstrated Pelkan spurs and a metaphyseal calcification band (known as a Frankel line) – features characteristic of scurvy.
Histopathology of the right buccal lesion showed an ulcer with underlying inflamed, haemorrhagic granulation tissue.
The patient was treated with intravenous fluids, nasogastric feeds, 300mg daily vitamin C, iron, thiamine and a multivitamin.
Further, the patient received a provisional diagnosis of level three autism spectrum disorder, supported by a multidisciplinary team of paediatrics, dietetics, physiotherapy, social work and an Aboriginal Liaison Officer.
He experienced rapid improvement of his cheek swelling and cutaneous symptoms and was discharged with an improved haemoglobin of 82g/dL and an expanded diet which included yogurt and fruit.
He continued vitamin C 100mg daily, along with folic acid and iron supplementation and dietetic follow-up.
“This case emphasises the proactive and culturally sensitive role dermatologists can play in achieving equality in health outcomes for First Nations people,” the authors wrote.
“The delayed diagnosis of scurvy in our patient appeared to be due to social factors such as perpetuating food preferences and minimal engagement with community services.
Related
“In Australia, the broader impact of history, colonisation on the health, social, economic and cultural experiences of First Nations peoples is important to acknowledge.”
Cheek swelling is an uncommon presentation in patients with vitamin C deficiency, they explained, and differential diagnoses in this case included necrotising gingivitis, periodontitis, candidiasis, blood dyscrasia, drug-induced gingival overgrowth, trauma and glossitis with cheilitis from other deficiency disorders.
“It [scurvy] must be identified and treated with a holistic approach in populations such as First Nations peoples,” they wrote.
“Clues to diagnosis include restricted diet, reduced oral intake, classical dermatological signs or as this case demonstrates, oral mucosal swelling, excessive granulation tissue and haemorrhage.”
