47-Year-Old Female with Hyperpigmented Plaque

CME INDIA Case Presentation by Dr. R. Kumar, MBBS, DCH, MD, General Medicine. Associate professor of medicine in Nilgiris Medical College, Tamil Nadu.

CME INDIA Case Study

How presented?

• She is a 47-year-old lady.
• She was picked up during ward rounds.
• She has glossitis, nausea, epigastric discomfort and skin lesions.
• She had hyperpigmented plaque with exfoliation of scales in dorsum of both hands and also in the margin of her forehead.
• She did not have dermatitis and diarrhoea.

What was done?

• Dermatologist’s opinion was sought. It was diagnosed as a case of Pellagra.
• Urine test for niacin not done.
• Patient was given Tab. Niacin 50 mg bd, along with other multivitamin and zinc.
• Her clinical condition improved over a week’s period.
• She was advised nutrition of meat, fish and milk.
• Unfortunately, patient was lost for follow up.

CME INDIA Discussion

Dr. Mahadevan, Dermatologist, Coimbatore:

• Common with chronic alcoholics.
• We should ask this history irrespective of Gender.
• Malnutrition, consumption of maize corn are the Risk factors.

Quick Take-Aways

(By Dr. Rajiv, Associate Professor Skin JLNMCH, Bhagalpur)

This case shows:

• Mucocutaneous lesions over her mouth, has glossitis, epigastric discomfort and may hv some other lesions over perianal/perivaginal areas.
• She also has sharply demarcated hyperpigmented plaques with fissures over dorsa of her hands in a B/L symmetrical pattern, depicting photo exposed affection.
• She looks weak, malnourished and coming from a lower socioeconomic status, which puts her at risk of malnourishment.
• All in all, these features lead towards a diagnosis of Pellagra.

Pellagra may be

1. Primary: deficiency of Niacin or Tryptophan in the diet, itself.
2. Secondary: Inability of the body to utilise the Niacin in the available diet.
3. Malabsorption Syndromes – IBD, Chronic Alcoholism, Chronic Diarrhoea, Crohn’s D, Gastroenterostomy.
4. Genetic – Hartnup Disease.
5. Drug Induced – Isoniazid, Ethionamide, Azathioprine, Carbamazepine.
6. Neuroendocrine – Carcinoid Syndrome.

Niacin is an important member of various enzymatic pathways, NAD/NADP

• Since Niacin is an important member of various enzymatic pathways, NAD/NADP, so its deficiency has a broad-spectrum effect.
• Particularly affected are the cells, which have a high turnover and rapid cycles, like skin, GIT and brain cells.
• Therefore, clinical picture has relevant symptoms of these parts.

It has wide spectrum of manifestations which may be briefly seen as

1. Mucocutaneous lesions

2. Cutaneous manifestations

3. GI Symptoms

4. Neurosensory features

5. Neuromotor features

6. Emotional features.

Differential Diagnosis

• Photosensitive Dermatoses
• Lupus Erythematosus
• Pemphigus Erythematosus
• Porphyria’s
• Drugs Induced.

Diagnosis

1. Clinical picture
2. Blood level of Tryptophan
3. Urinary excretion of products of Niacin
4. NAD/NADP Ratio

In the absence of tests

• A quick response with Niacinamide itself, is enough evidence of the disease.

Treatment

1. Tab Nicotinamide 100 mg, thrice daily; 300 mg, in 2 – 3 divided doses.  Nicotinamide is preferred over Niacin, as the later may cause flushing.
2. Multi Nutritional Supplements.
3. Topical Sunscreen.
4. Emollients.
5. Supportive.

Offending drug, to be taken care of

• Alcohol withdrawal
• Diet routine
• GIT care

There is usually a quick response with the treatment.

• Mucosal and mucocutaneous lesions respond within days.
• Cutaneous lesions respond within a week or two.
• Neurological problems take a little longer to resolve.
• In a usual case, it takes around 3 – 4 weeks for a successful and complete treatment.

CME INDIA Learning Points

“Pellagra begins in the stomach.”

• Pellagra is a systemic disease caused by a deficiency of niacin, also known as vitamin B3. It is characterized by a classic triad of symptoms: dermatitis, diarrhoea, and dementia. These symptoms usually appear in this order, with GI tract symptoms preceding dermatitis.
• The quote by Rille, “Pellagra begins in the stomach,” refers to the fact that the earliest symptoms of pellagra are gastrointestinal in nature, and that the disease begins with a lack of niacin in the diet. If left untreated, pellagra can lead to death.
• The diagnosis of pellagra is typically made based on a combination of the patient’s clinical presentation and laboratory tests.
• The classic triad of symptoms, also known as the “3 D syndrome” of dermatitis, diarrhoea, and dementia, is often used as a diagnostic guide.
• The dermatitis caused by pellagra typically appears as a bilaterally symmetrical erythema at the sites of solar exposure, such as the face, neck, arms, and legs.
• Laboratory tests can be used to confirm the diagnosis of pellagra and assess the severity of the niacin deficiency.

• The therapeutic response to niacin can support the diagnosis of pellagra, but it should not be the sole basis for diagnosis.
• A patient with symptoms and signs suggestive of pellagra who responds to niacin therapy is likely to have niacin deficiency and pellagra. However, other conditions that can cause similar symptoms, such as other vitamin deficiencies or certain medical conditions, should also be considered and ruled out.
• Therefore, a thorough medical evaluation, including a detailed history and physical examination, along with laboratory tests, should be performed to confirm the diagnosis of pellagra.
• Once a diagnosis of pellagra is confirmed, treatment with niacin supplementation is necessary to alleviate symptoms and prevent complications associated with niacin deficiency

CME INDIA Tail Piece

Historical Puzzle

• Pellagra was first described in Spain in the 18th century and was later recognized in other parts of Europe. It was not until the early 20th century that pellagra was first reported in the United States, where it occurred in epidemic proportions in the American South, particularly among poor populations.
• At the time, the exact cause and cure of pellagra were not known, and the disease was often stigmatized. This led to a culture of “pellagraphobia,” in which patients were shunned and ostracized due to the fear of contagion. Many of these patients were poor and lived in overcrowded conditions, which may have contributed to the spread of the disease.
• It was not until the early 20th century that researchers began to identify niacin deficiency as the cause of pellagra and discovered that it could be prevented and treated with a diet rich in niacin. The discovery of the link between niacin deficiency and pellagra led to significant improvements in public health and a decline in the incidence of pellagra in the United States and other developed countries.

Casal’s necklace

• The skin rash associated with pellagra typically appears as a bilateral symmetrical erythema with well-defined borders, and it is most commonly observed on sun-exposed areas such as the face, neck, and dorsa of the hands. The rash may also appear on the extensor surface of the forearms and other sun-exposed areas.
• The rash often has a photosensitive distribution, meaning it is more pronounced in areas exposed to sunlight. The rash on the neck is sometimes referred to as “Casal’s necklace,” named after Gaspar Casal, a Spanish physician who first described the characteristic skin lesions of pellagra in the 18th century.
• The skin rash associated with pellagra is one of the hallmark features of the disease, along with diarrhoea and dementia. If left untreated, the rash may progress to a more severe form, with the development of bullae, necrosis, and secondary bacterial infections.

Pellagra is a historically old but certainly not completely eradicated disease

• Overall, while pellagra may be a historically old disease, it is still relevant today, and clinicians should remain vigilant for its signs and symptoms in at-risk populations to ensure timely diagnosis and treatment.

Know it

*A 3-ounce serving of meat is about the size of a deck of cards.

References:

1. Russel RM. Vitamin and trace mineral deficiency and excess. : Kasper DL, Braunwald E, Fauci AS, et al., Harrison’s principles of internal medicine. 16th ed New York: McGraw-Hill; 2005. pp 404-405
2. Oldham MA, Ivkovic A. Pellagrous encephalopathy presenting as alcohol withdrawal delirium: a case series and literature review. Addict Sci Clin Pract 2012;7: 12
3. MacDonald A, Forsyth A. Nutritional deficiencies and the skin. Clin Exp Dermatol 2005;30:388-90
4. Savvidou S. Pellagra: a non-eradicated old disease. Clin Pract. 2014 Apr 28;4(1):637. doi: 10.4081/cp.2014.637. PMID: 24847436; PMCID: PMC4019925.
5. Wan P, Moat S, Anstey A. Pellagra: a review with emphasis on photosensitivity. Br J Dermatol. 2011 Jun. 164 (6):1188-200.
6. Xiao H, Jin L, Zhu W, Li F. Chronic diarrhea and pruritic rash related to pellegra after pancreaticoduodenectomy. Nutr Clin Pract. 2022 Feb. 37 (1):224-225.
7. Hegyi J, Schwartz RA, Hegyi V. Pellagra: dermatitis, dementia, and diarrhea. INT J DERMATOL. Jan (2004). 43(1):1-5. 
8. Rajakumar K. Pellagra in the United States: a historical perspective. SOUTH MED J. Mar (2000) ;93(3):272-7. 
9. Rille JH. Medizinische Gesellchaft Leipzig. Sitzug vom 16. November (1926). Ueber Pellegra (mit Lichtbildern). DERMATOL WOCHENSCHRIFT. 1927;6:189.
10. Martino, G.P., Agostini, A., Girotti, S. et al. Pellagra: a Still Present Disease. SN Compr. Clin. Med. 3, 1801–1803 (2021). https://doi.org/10.1007/s42399-021-00949-6

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