A 34-year-old previously well woman presented with a 4-week history of diffuse erythema and crusting of skin affecting all four limbs. Examination revealed erythematous skin plaques associated with ulceration and fissuring affecting sun-exposed areas of all four limbs primarily on the dorsal surfaces, and a body mass index of 17 kg/m2. She was admitted under the infectious diseases unit, and an autoimmune and infective screen was performed which returned unremarkable. Dietetic consultation led to the diagnosis of severe protein-energy malnutrition, consequent to a severely restricted, primarily vegan, diet. Analysis of the patient’s reported diet with nutritional software revealed grossly suboptimal caloric intake with risk of inadequacy for most micronutrients, vitamins and minerals, including niacin. Oral thiamine, multivitamin, iron supplementation and vitamin B complex were started, and a single intramuscular vitamin B12 dose was administered. Marked improvement was seen after 6 weeks, with near-complete resolution of skin changes. These findings supported a diagnosis of pellagra.
- nutritional support
- vitamins and supplements
Statistics from Altmetric.com
If you wish to reuse any or all of this article please use the link below which will take you to the Copyright Clearance Center’s RightsLink service. You will be able to get a quick price and instant permission to reuse the content in many different ways.
Pellagra is a preventable and easily treatable condition when recognised, typically manifesting with non-specific symptoms such as dermatitis, diarrhoea and altered cognition. Prompt diagnosis and management is important given the morbidity of this condition and the impact on patient well-being. The discovery of nutritional deficiencies started in the early 19th century, and the clinical manifestations of specific vitamin deficiencies have become well described over the years. In low-income and middle-income countries especially, the prevalence and subsequently awareness of these conditions have declined as diseases of affluence have risen to the forefront.
In recent times, however, there has been an increasing number of case reports and discussion in the media supporting re-emergence of diseases related to nutritional deficiencies such as scurvy and pellagra. The risk of nutritional deficiencies is heightened in individuals who are alcohol-dependent, who have an eating disorder or even those who are unknowingly engaged in extreme behaviours for the sake of healthy living and eating. This case exemplifies the need for improved medical awareness to consider specific nutritional deficiencies, such as pellagra, as a differential diagnosis in a non-specific presentation such as that described. Failure to do so may precipitate untargeted and excessive investigations, and possible harm from empirical therapies to cover potential alternative aetiology, such as an infectious or autoimmune process.
A 34-year-old woman presented with a 4-week history of diffuse erythema and crusting of skin starting distally in the lower limbs and progressing to affect all four limbs. She first noted multiple dry erythematous lesions on bilateral lower limbs, which progressed with swelling of surrounding skin, and development of plaques and fissures. Similar changes in the upper limbs ensued. She reported fatigue and some difficulty concentrating, but denied fevers or sweats. She had no medical history, regular medications or known allergies. She lives alone and works in the natural therapies industry, with no reported alcohol, cigarette or recreational drug use. She had consulted several general practitioners and received courses of oral antibiotics without improvement. A course of intravenous antibiotics and oral prednisolone was also prescribed after presenting to an emergency department which helped minimally with the swelling.
Clinical examination revealed erythematous skin plaques associated with ulceration and fissuring affecting sun-exposed areas of all four limbs (figure 1), primarily on the dorsal surfaces, without thorax involvement. She was otherwise well on examinination. Notably, she was underweight with a body mass index of 17 kg/m2 (height 1.72 m, weight 51 kg).
Investigations revealed a normocytic anaemia with hypersegmented neutrophils on blood film. Her renal function and liver function tests were normal, and her serum albumin was 25 g/L.
She was admitted under the infectious diseases unit for an undifferentiated skin condition, and an autoimmune and infective screen was performed, following which intravenous flucloxacillin was started. In further detail, rheumatoid factor, anti-cyclic citrullinated peptide (anti-CCP), antineutrophil cytoplasmic antibodies (ANCA), antinuclear antibody (ANA), anti-double stranded DNA (anti-dsDNA), and an extractable nuclear antigen (ENA) panel returned negative, as did blood and urine cultures collected on admission. A chest X-ray performed as part of the septic screen was unremarkable. Serology was performed testing for HIV, syphilis, hepatitis A, B and C, all of which returned negative. A skin biopsy demonstrated hyperkeratosis only, without eosinophils or vasculitis, and negative fungal staining.
Dietetic consultation led to diagnosis of severe protein-energy malnutrition consequent to a severely restricted diet; low in whole grains, meat and alternatives, and dairy. The patient predominantly followed a vegan diet with small amounts of milk and fish consumed. Analysis of the patient’s reported diet with nutritional software1 revealed only 38% of basal metabolic requirements and 21% of total estimated energy requirements were met. Intake below the Recommended Dietary Intake2 for age and gender, and consequent risk of deficiency was demonstrated for protein, thiamine, riboflavin, niacin equivalents, folate, vitamin A, magnesium, calcium, phosphorous, iron, zinc and iodine (table 1). The patient did not perceive any areas of concern in her reported diet and believed intake was aligned with a ‘healthful’ diet. Dietetic counselling on a nutritionally adequate diet, including food sources of niacin, was provided.
The patient was started on oral thiamine 100 mg daily, one multivitamin tablet daily, oral ferrous sulfate 325 mg daily and one tablet of vitamin B complex daily, in addition to a single intramuscular dose of 1 mg hydroxocobalamin. The plan on discharge was to commence a nutritionally adequate diet and continue these oral medications until outpatient review which occurred at the 6-week mark.
Pathology results demonstrated multiple nutritional deficiencies including iron, zinc and vitamin B, as evidenced by a low serum iron level and transferrin saturation, low serum zinc plasma and low serum vitamin B12 and B6, all below the lower limit of normal on the relevant assays.
Outcome and follow-up
Marked improvement was seen after 6 weeks of oral vitamin B supplementation, with near-complete resolution of skin changes (figure 2). Dermatology consult provided the opinion that skin changes had healed, with only resultant postinflammatory hyperpigmentation present. These findings supported a diagnosis of pellagra.
Nutritional deficiencies are easily treatable once recognised; however, the challenge often lies in identification and diagnosis. Previous reports document cases of pellagra that have been missed for prolonged periods due to lack of recognition3 4 and have been subsequently mismanaged.5 There is a paucity in recent literature about such cases, especially in developed countries, as historical literature led to policy change and dietary fortification, and medical guidelines introduced recommendations of vitamin supplementation for at-risk populations. Of late, however, such cases have begun to resurface with the media highlighting occurrences of severe vitamin deficiencies such as scurvy,6 7 in particular in the context of alcoholism and an eating disorder. These highlight the importance of increased awareness of nutritional diseases and the need to screen for potential dietary inadequacies when the clinical signs are undifferentiated but fitting.
The patient discussed experienced symptom progression, despite seeking help from multiple medical providers, until the severity of her clinical presentation warranted an inpatient admission. Failure to consider nutritional deficiencies as a diagnosis could lead to prolonged work-up and hospitalisation which bears a cost to society and the individual. Other therapies, such as antibiotics or steroids, may be trialled in an attempt to cover empirically for an infectious or autoimmune aetiology which could lead to treatment-associated side effects. A delay in diagnosis also means increased patient morbidity, and along with that impact on psychological well-being.
Seeking expert opinion through a dietetics referral for assessment of dietary intake can support timely identification of nutritional inadequacy in any at-risk patient. Collaboration between the medical and dietetics unit enables optimisation of a patient’s nutritional state and treatment of any vitamin deficiencies that could be perpetuating a state of poor health.
Consuming a balanced diet and fortification of commonly consumed foods renders vitamin B3 deficiency a rare occurrence in developed countries. However, the growing focus on ‘healthy eating’, often without dietetic support, increases the risk of nutritionally restricted diets. This case serves as a reminder to consider pellagra as a differential diagnosis in patients presenting with undifferentiated skin changes as described.
Pellagra is preventable and easily treatable when recognised which has a large impact on patients given the associated morbidity. In this patient, treatment may have been initiated sooner with improved awareness of the signs and symptoms of nutritional deficiencies.
It is important to be mindful of the possibility of a dangerous self-imposed dietary restriction in pursuit of perceived optimal ‘health’ with fad diet principles.
Patients at risk include those following a vegan diet with inadequate wholegrain intake, those with an eating disorder or those who have an alcohol use disorder.
Referral to dietetics for assessment of dietary intake can support timely identification of risk of nutritional inadequacy in these patients.
Contributors EN contributed to the conception, planning and composition of the case report. MN contributed to conception and composition, and performed the nutritional analysis. Both authors were involved in reviewing the literature and finalising the manuscript.
Funding The authors have not declared a specific grant for this research from any funding agency in the public, commercial or not-for-profit sectors.
Competing interests None declared.
Patient consent Obtained.
Provenance and peer review Not commissioned; externally peer reviewed.