Journal scan: A review of images in clinical medicine of immediate clinical significance, harvested from major international journals

From the desk of the Editor-in-chief

Images in Medicine

1. Meconium Ileus

Annie Le-Nguyen et al, Published March 26, 2025,N Engl J Med 2025;392:1215,VOL. 392 NO. 12

Abstract

A full-term baby boy was transferred to the NICU at 30 hours of age with abdominal distention and failure to pass meconium. An abdominal radiograph showed dilated loops of small intestine.

2. Sézary Syndrome

Heloise Mazoyer et al, Published March 22, 2025, N Engl J Med 2025;392: e31,VOL. 392 NO. 12

Abstract

A 27-year-old man presented with a 6-month history of an itchy rash. Confluent, hyperpigmented plaques across the torso and upper arms and axillary and inguinal lymphadenopathy were noted on examination.

Sézary syndrome is a rare, aggressive form of cutaneous T-cell lymphoma (CTCL) characterized by cancerous T-cells (Sézary cells) in the blood, skin, and lymph nodes, leading to a red, itchy rash (erythroderma) and enlarged lymph nodes.

3. Red Urine after Administration of Hydroxocobalamin

Nilesh Anand Devanand, Published March 22, 2025,N Engl J Med 2025;392: e32,VOL. 392 NO. 12

Abstract

A 40-year-old man who was being treated in the ICU after inhalation of car exhaust in a suicide attempt was noted to have red urine.

4. JAMA Clinical Challenge

A 25-Year-Old with Verrucous Pustules and Fevers

Carlos Seas et al, JAMA. 2025;333(13):1168-1169. doi:10.1001/jama.2024.28032

Case Presentation

A25-year-old man taking no regular medications presented to clinic with a 1-month history of skin lesions, which began as small painless papules on his face and progressed to vesicles and pustules over 1 week. Two weeks prior to presentation, he received empirical treatment for herpes simplex virus with a 7-day course of acyclovir (400 mg 3 times daily). However, the lesions enlarged, became verrucous, and new ulcerated, papular lesions appeared on his trunk and extremities; he developed fevers to 39 °C (102.2 °F) and malaise. He had no known history of sexually transmitted infections but reported unprotected sex with multiple male partners. He reported recent exposure to a work colleague with active tuberculosis.

At presentation, temperature was 37.4 °C (99.3 °F); respirations, 18/min; heart rate, 80/min; and blood pressure, 102/64 mm Hg; oxygen saturation was 97% on room air. Physical examination revealed crusted, ulcerative, pustular, nodular, and verrucous facial lesions, ulcerative lesions on his back and limbs, and papular lesions across his body (Figure). He had no mucosal lesions or lymphadenopathy

Left, Crusted, ulcerative, pustular, nodular, and verrucous lesions on patient’s face. Right, Ulcerative lesions on back.

Laboratory results revealed normal hemoglobin level, white blood cell count, glucose level, and liver function. A fourth-generation immunoassay test for HIV was positive, CD4 count was 125 cells/mm3, and HIV viral load was 157 000 copies/mL. A fluorescent treponemal antibody absorption (FTA-ABS) result was positive. Results of tests for rapid plasma reagin (RPR), human T-lymphotropic virus 1, and tuberculin purified protein derivative were negative. Bacterial culture of the skin lesions grew methicillin-resistant Staphylococcus aureus. Fungal and mycobacterial cultures of the skin lesions were negative, and chest radiography findings were normal.

What Would You Do Next?

  • Biopsy a skin lesion.
  • Repeat the RPR test with dilution
  • Send an interferon gamma release assay
  • Start vancomycin (1 g intravenously every 12 hours)

Discussion

Diagnosis: Malignant syphilis

What to Do Next

B. Repeat the RPR test with dilution

Discussion

The key to the correct diagnosis is recognizing that despite the negative RPR test result, the patient’s symptoms, sexual history, positive HIV test result, and positive FTA-ABS result are highly suggestive of syphilis. Skin biopsy (choice A) can provide valuable histopathological information but is invasive and not the first option. Interferon gamma release assay (choice C) is not the appropriate test to diagnose active tuberculosis. Vancomycin (choice D) is incorrect because treatment of methicillin-resistant S aureus from a superficial skin culture is not indicated.

Malignant syphilis, caused by the spirochete Treponema pallidum, is a rare and severe form of secondary syphilis characterized by disseminated ulcerative lesions and often accompanied by systemic symptoms of fever, malaise, arthralgias, and myalgias. Skin lesions typically begin as papules and progress to pustules and then to ulcerated, crusted lesions, often with a necrotic center.1 Malignant syphilis is more common with immunocompromised conditions such as HIV, use of immunotherapy, malnutrition, diabetes, and alcohol use disorder.2 A study of 11 368 HIV-infected patients reported that 1% had syphilis; of those, 7.3% had malignant syphilis.3 Histopathology of skin lesions reveals a dense inflammatory infiltrate in the dermis. Immunohistochemical staining demonstrating spirochetes in tissue occurs in approximately 57% of malignant syphilis cases.4

The differential diagnosis of malignant syphilis includes diffuse cutaneous leishmaniasis; progressive disseminated histoplasmosis; cryptococcosis, mpox, mycosis fungoides, and tuberculosis verrucosa cutis.

There are 2 algorithms to diagnose syphilis, and the choice of algorithm depends on the availability and cost of testing and level of endemicity.5,6 The initial test in the reverse algorithm is a treponemal test (eg, FTA-ABS), which detects specific antibodies against T pallidum and provides a qualitative result (reactive or nonreactive).5,6 Because these antibodies can persist lifelong, a positive treponemal test result does not differentiate between newly acquired and previously treated syphilis infection and should be confirmed with a nontreponemal test (eg, RPR or venereal disease research laboratory [VDRL] test). The initial test in the traditional algorithm is a nontreponemal test that assesses serum reactivity to a lecithin-cholesterol-cardiolipin antigen to identify IgG and IgM antibodies in individuals infected with T pallidum. Nontreponemal tests provide semiquantitative results, and the amount of IgM and IgG antibodies reflects the activity of syphilitic infection.5 A positive nontreponemal test result should be followed by confirmatory testing with a treponemal test.

A nontreponemal test result may be falsely negative when very high syphilis antibody titers interfere with formation of antigen-antibody complex lattice, thereby preventing visible agglutination.7 This phenomenon, called the prozone effect, occurs more frequently in patients with HIV, likely due to B-cell dysregulation causing high antibody levels.7 When the prozone effect is suspected, the RPR test should be repeated with dilution.

Malignant syphilis is treated as secondary syphilis, with a single dose of 2.4 million units of intramuscular benzathine penicillin.8 Response to therapy is defined as at least a 4-fold decrease in RPR titer at 12 months,9 with rapid disappearance of systemic symptoms and resolution of skin lesions.

Patient Outcome

To evaluate for the prozone effect, a repeat RPR test with dilution was performed and was reactive, with a titer greater than 1:128. A lumbar puncture, performed to rule out neurosyphilis, revealed normal cerebrospinal fluid findings, and the fluid tested negative on VDRL test. Findings on fundoscopic examination to evaluate for ocular syphilis were unremarkable. The patient received a single intramuscular dose of 2.4 million units of benzathine penicillin and started antiretroviral treatment for HIV with tenofovir disoproxil fumarate, lamivudine, and dolutegravir. His skin lesions improved over 2 weeks and resolved after 1 month. At 1 year after therapy, RPR had decreased to 1:8. At most recent follow-up, 24 months after initial presentation, the patient was taking antiretroviral treatment, his CD4 count was 383 cells/mm3, and viral load was undetectable (<40 copies/mL). Skin examination revealed areas of residual postinflammatory hyperpigmentation on his face.

6. Images in Clinical Medicine

Neonatal Lupus

Jing Mao et al, Published April 2, 2025, N Engl J Med 2025;392: e35,DOI: 10.1056/NEJMicm2415348,VOL. 392 NO. 13

A previously healthy, full-term, 2-month-old boy was brought to the dermatology clinic with a 2-week history of red spots that had spread across his face. On physical examination, annular plaques with edematous borders and central crusting were observed on the baby’s face, scalp, and trunk. Results of a complete blood count and comprehensive metabolic panel were normal. Testing for syphilis was negative. Anti-Ro and anti-La antibodies were positive in both the infant and the mother, the latter of whom was asymptomatic and had no history of autoimmune disease. Examination of a skin-biopsy sample obtained from the baby’s right forehead showed vacuolar interface dermatitis and perivascular and periadnexal lymphocytic infiltrates. A diagnosis of neonatal lupus was made. Neonatal lupus results from the passive transfer of maternal anti-Ro and anti-La across the placenta. The associated rash may be present at birth but more often appears several weeks later, after the infant has been exposed to the sun. An electrocardiogram that was obtained to evaluate for atrioventricular block was normal. Reassurance was provided to the baby’s mother about the self-limited nature of the rash, and a recommendation was made for the use of photoprotection. Given her high risk for the development of autoimmune symptoms, the mother was referred to the rheumatology clinic. At the 2-month follow-up, the baby’s rash had resolved.

7. Images in Clinical Medicine

Ménétrier’s Disease

Xing Wang  etal, Published March 29, 2025,N Engl J Med 2025;392:1334,DOI: 10.1056/NEJMicm2415138,VOL. 392 NO. 13

Abstract

A 16-year-old girl presented with a 2-month history of leg swelling. Laboratory results were notable for a low albumin level. Abdominal CT revealed diffuse thickening of the gastric wall with enlarged gastric folds.

Ménétrier’s disease is a rare, acquired disorder characterized by massive overgrowth of foveolar cells in the stomach lining, leading to large gastric folds, decreased acid secretion, and protein loss, potentially causing hypoalbuminemia.

Here’s a more detailed explanation:

Key Characteristics:

  • Rare and Acquired: Ménétrier’s disease is uncommon and develops after birth, not inherited.
  • Hypertrophic Gastropathy: The disease is a type of hypertrophic gastropathy, meaning it involves an enlargement of the stomach lining.
  • Giant Gastric Folds: A hallmark of Ménétrier’s disease is the presence of large, thickened folds in the stomach lining (rugae).
  • Foveolar Hyperplasia: The overgrowth of foveolar cells, which are specialized cells in the stomach lining, is a key feature.
  • Protein Loss: he excessive mucus production and increased surface area of the stomach lining can lead to significant protein loss into the stomach, resulting in low levels of albumin in the blood (hypoalbuminemia).
  • Hypochlorhydria: Reduced acid secretion in the stomach is also characteristic.
  • Other Names: Ménétrier’s disease is sometimes referred to as giant hypertrophic gastritis or hypoproteinemic hypertrophic gastropathy.

Symptoms

Common symptoms include abdominal pain, nausea, vomiting, loss of appetite, and peripheral edema (swelling) due to hypoalbuminemia.

Diagnosis

The diagnosis is usually based on the clinical presentation, including symptoms and signs of protein loss and the presence of large gastric folds.

Endoscopy and Biopsy: Upper endoscopy with biopsy is often used to visualize the stomach lining and obtain tissue samples for examination.

Radiological Imaging: Barium swallow or other imaging techniques can also help to visualize the stomach and identify the presence of large folds.

Treatment: No Specific Treatment

There is no specific cure for Ménétrier’s disease, and treatment focuses on managing symptoms and complications.

Supportive Care

This may include dietary changes, medications to reduce stomach acid, and intravenous albumin to address hypoalbuminemia.

Monitoring

Regular follow-up with endoscopy and surveillance for complications, such as increased risk of gastric cancer, is important

8. Pemphigus Foliaceus

Bladimir Rodriguez-Lechtig  etal, Published April 9, 2025,, Engl J Med 2025;392:1427, DOI:,  10.1056/NEJMicm2414618,VOL. 392 NO. 14

Abstract

A 22-year-old man presented with a 1-year history of a red, scaly rash on his face and body. Direct immunofluorescence of a skin-biopsy specimen showed intercellular IgG antibodies against desmoglein-1.

9. Images in Clinical Medicine

Pavement Burns

Jeremy J. Hes, https://orcid.org/0000-0002-0440-2459Author Info & Affiliations, Published April 19, 2025

Abstract

A 56-year-old man was transferred to a burn center for management of pavement burns on his feet that had occurred during a heat wave.

10. Electrocardiographic Abnormalities in a Patient with Hepatocellular Carcinoma

Educational Objective

To identify the key insights or developments described in this article

JAMA Internal Medicine,Published Online: April 25, 2022.Challenges in Clinical Electrocardiography, Yu Xu et al, https://edhub.ama-assn.org/jn-learning/module/2791670?utm_source=silverchair&utm_medium=email&utm_campaign=article_alert jamainternalmedicine&utm_content=olf&utm_term=042125&utm_adv=000004305673

A patient in their early 60s presented to the emergency department with 1 week of progressive weakness, myalgia, dyspnea, and ptosis. The patient’s medical history was significant for hepatocellular carcinoma, for which the patient had received radical surgery followed by an initial dose of camrelizumab 1 month before presentation. Vital signs on admission noted a blood pressure of 150/90 mm Hg, respiratory rate of 27 breaths per minute, heart rate of 108 beats per minute, and oxygen saturation of 92% on room air. Investigation revealed a creatinine phosphokinase level of 8156 U/L (reference range, <190 U/L), troponin I level of 1.47 ng/mL (reference range, <0.01 ng/mL; to convert to μg/L, multiply by 1), brain natriuretic peptide level of 267.3 pg/mL (reference range, <300 pg/mL), and a positive test result for acetylcholine receptor antibodies. Echocardiogram results showed a preserved left ventricular ejection fraction without wall-motion abnormalities. A routine electrocardiogram (ECG) performed 1 month earlier yielded normal results. The ECG obtained on this admission is shown in the Figure, A.

What are your observations?

 

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