Diagnostic Issues

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• False-negative PET/CT scan with metastatic sebaceous carcinoma: an important diagnostic consideration Tong Ren, Jennifer Foster, Alex Wu, Alisher Hamidullah, Eric Sladek Views: 0 HTML: 0 PDF: 0

  Positron emission tomography (PET) has gained widespread acceptance as a valuable diagnostic tool for cancer. It is rare for a PET/CT scan to overlook the presence of metastatic disease. Sebaceous carcinoma is an uncommon malignant tumour that typically originates in the skin of the eyelid. In this case report, we present a unique case involving a metastatic sebaceous carcinoma that was not initially detected by a PET/CT scan in an 88-year-old female. Therefore, clinicians must maintain a heightened awareness of sebaceous carcinoma and exercise caution when making decisions solely based on PET scan results. It is crucial to recognise this potential limitation of PET scans in sebaceous carcinoma and consider further diagnostic approaches to ensure timely and accurate detection of sebaceous carcinoma.

• Syphilitic stomatitis: raising awareness on an often-overlooked presentation of secondary syphilis Henrique Atalaia-Barbacena, Catarina Isabel Lopes, Inês Matias Lopes, Patrícia Howell Monteiro Views: 126 HTML: 9 PDF: 66

  Syphilis, a disease caused by the bacteria Treponema pallidum, has a multitude of clinical manifestations and is classified into primary syphilis, secondary syphilis and tertiary syphilis, based on clinical presentations and the time elapsed since the primary infection. The secondary stage of the disease can affect multiple organs and systems, and some of these involvements may be general and non-specific, justifying its name as ‘the great imitator’. We present a case of a 30-year-old woman with a history of painful neck lymph nodes with progressive enlargement, persistent headache, weight loss, myalgia and alopecia. During investigations, stomatitis on the dorsal face of the tongue developed. A secondary study showed serum positive for rapid plasma reagin (RPR) and T. pallidum haemagglutination (TPHA), negative RPR in cerebrospinal fluid and normal MRI, thus the diagnosis of secondary syphilis was made. The patient was treated with a single dose of penicillin with complete resolution of symptoms. The case highlights the need for an exhaustive clinical examination, especially in cases presenting with non-specific and general symptoms, and raises awareness for this disease which has increased its prevalence in the last decades.

• Going back to basics: remembering touch in the digital era Beatriz R. Sousa, Diogo Faustino, Rita Pocinho Views: 77 HTML: 4 PDF: 37

  Internal medicine is the specialty with the most semiological training and it is taught that the combination of a complete clinical history with a thorough physical examination allows for a diagnosis to be reached in the majority of cases. We present a clinical case where an incomplete physical examination interfered with the course of hospitalisation. In a growing technological world where complementary diagnostic tests often allow us to see what is impossible to the eye, the physical examination is often neglected.

• A fast-growing myxoma of the left atrium Jakub Benko, Martin Jozef Péč, Marek Cingel, Jakub Jurica, Tomáš Bolek, Marián Mokáň, Matej Samoš Views: 116 HTML: 4 PDF: 76

  Introduction: Myxoma of the left atrium is a less typical cause of mitral obstruction. If this develops, a flash pulmonary oedema can be the first manifestation.
  Case description: We present a case report of a 50-year-old woman who was admitted to our internal department because of dyspnoea. The patient overcame a stroke three years before the index hospitalisation with a negative transthoracic echocardiography. By anamnesis and physical examination, an exacerbation of COPD was assumed, and the patient was treated accordingly. As the patient showed numerous risk factors for heart failure with preserved ejection fraction, transthoracic echocardiography was performed. A large polypoid mass was found in the left atrium, which caused severe mitral obstruction. Subsequent transoesophageal echocardiography confirmed this finding. The patient underwent urgent cardiac surgery, and the tumour was successfully resected. A histological examination revealed a cardiac myxoma. After the cardiac surgery the patient felt well, and no recurrence of the tumour occurred.
  Conclusions: We provide a case report of a fast-growing myxoma that was incidentally found in a patient with dyspnoea. We highlight the fast growth rate of the tumour and the potential for misdiagnosed signs of pulmonary oedema caused by mitral obstruction.

• Kaposi’s varicelliform eruption: a potentially life-threatening complication of atopic dermatitis María Martín-Galache, Ana María Escalona-Gil, Luis Posado-Domínguez, Alejandro Jiménez-Domínguez, Alicia Arévalo-Cenzual, Francisco Javier López-Ávila, Eduardo Consuegra-Llapur Views: 256 HTML: 21 PDF: 142

  Introduction: Kaposi’s varicelliform eruption (KVE), also known as eczema herpeticum or eczema vaccinatum, is an acute dermatosis that affects patients with chronic dermatopathies. The diagnosis is primarily clinical and is characterised by the presence of a vesicular exanthema on physical examination. The exanthema subsequently evolves into crusted lesions with typical circular ulcerations in ‘punched-out’ areas on the skin affected by the underlying dermatopathy.
  Case description: We present the case of a 6-year-old patient who presented to the Paediatric Emergency department with skin lesions consistent with eczema herpeticum. The patient’s management was initially outpatient; however, due to the slow progression of the condition, hospitalisation and intravenous antiviral treatment were initiated.
  Discussion: KVE affects patients with chronic dermatoses, especially atopic dermatitis. It is important to know the clinical presentation for an early suspicion. KVE is a medical emergency that requires prompt diagnosis and treatment. It can progress to secondary viraemia, which can be fatal in up to 10% of immunocompetent individuals and up to 50% of immunocompromised individuals. It is important to be aware of this condition and to start early treatment with antivirals, especially given the high prevalence of atopic dermatitis in our population. This condition is one of the most serious complications that can occur in these patients.

• Bladder perforation and vesico-haematoma fistula: an uncommon complication of rectus sheath haematoma Novena Lin Sing Cheng, Chung Wai Wong, Wen Ming Yu, Kim Hung Tsang Views: 75 HTML: 17 PDF: 65

  Introduction: Rectus sheath haematoma (RSH) has become increasingly common but is often underdiagnosed. Prompt diagnosis will avoid unnecessary investigations and procedures, resulting in early treatment and a better outcome.
  Case description: We described a case of a spontaneous RSH with intraperitoneal extension and formation of a vesico-haematoma fistula, which was initially misdiagnosed as a urinary tract infection. The diagnosis was made ten days after admission, when a CT scan showed an over-16 cm RSH with intraperitoneal extension, bladder perforation and a vesico-haematoma fistula. The patient was managed conservatively.
  Discussion: RSH accounts for less than 2% of acute abdomen cases and is often unrecognised. Its presentation can mimic other intra-abdominal pathologies, and the diagnosis is often delayed or missed. Complications can arise from an RSH although it is generally viewed as a self-limiting condition.
  Conclusion: RSH has become increasingly common, and we would like to highlight the need to include abdominal wall pathologies in the initial differential diagnoses of acute abdomen to avoid delay in diagnosis.

• Bartonella henselae related unilateral anterior uveitis and subsequent multifocal retinitis in a case under certolizumab treatment Mustafa Kayabaşı, Işıl Kefeli, Pınar Çakar Özdal, Ali Osman Saatci Views: 177 HTML: 13 PDF: 154

  Introduction: A case of ocular bartonellosis under anti-tumour necrosis factor treatment is described.
  Case description: A 29-year-old woman with psoriasis who had been on certolizumab treatment was examined with a left visual deterioration following a fever bout, malaise, and placoid erythematous rashes on her neck. As there was acute anterior uveitis in her left eye, it was recommended to stop certolizumab treatment for a possible infectious aetiology. However, her physician elected to continue the certolizumab treatment. Ten days later, the patient noticed further visual decline despite the topical steroid treatment. This time, there were scattered yellow-white small retinitis foci at the left posterior pole. Infectious agents were searched and while Bartonella henselae antibodies were negative for immunoglobulin M, the immunoglobulin G titre was 1/80. Clinical findings were improved with the systemic treatment of oral trimethoprim-sulfamethoxazole (160/800 mg twice daily for six weeks) and azithromycin (500 mg once daily for two weeks).
  Discussion: Though extremely rare, ocular bartonellosis should be kept in mind in patients on anti-tumour necrosis factor treatment as rapid and accurate diagnosis may end up with an excellent visual outcome and full recovery.

• Haematogenous pneumonia caused by Kocuria kristinae in a patient with a central venous catheter Raffaele Natale, Clelia Nasti, Annadora Morena, Fabrizio Pasanisi, Lidia Santarpia Views: 140 HTML: 18 PDF: 100

  Kocuria kristinae is a Gram-positive commensal bacterium, rarely responsible for infection in immunocompromised patients.
  A 29-year-old woman affected by intestinal pseudo-obstruction and requiring home parenteral nutrition, was hospitalised for fever and shivering during the infusion through a long-term central venous catheter (CVC).
  Blood cultures were positive for K. kristinae infection. At a chest CT scan, two partially cavitated nodular lesions were evidenced. Meropenem antibiotic therapy was used locally and systemically, resulting in catheter use restoration.
  A chest CT scan two months later at follow-up showed two centimetric, fibrotic and disventilatory areas replacing the previous nodular thickenings.
  Kokuria kristinae was responsible for haematogenous pulmonary involvement with excavated nodules, requiring a differential diagnosis. Moreover, in the case of a CVC infection, in addition to the risk of right endocarditis, haematogenous pneumonia must also be considered.

• HHV8-positive multicentric Castleman’s disease and thrombotic thrombocytopenic purpura among HIV-positive patients Roxane Pasquer, Yannick Dieudonné, Pauline Decours, Olivier Hinschberger, Alina Nicolae, Martin Martinot Views: 211 HTML: 12 PDF: 153

  Castleman’s disease (CD) and thrombotic thrombocytopenic purpura (TTP) are rare diseases that can affect the general population, especially those with HIV. Owing to their rarity, the association between CD and TTP remains insufficiently understood. In this study, we present a case of a 53-year-old patient with controlled HIV infection who presented with fever, lymphadenopathy, severe anaemia, and thrombocytopenia. After a series of tests, the diagnosis was concurrent human herpesvirus 8 (HHV8)-related multicentric CD (MCD) and TTP. Only four male patients were previously reported having this association, with HHV8 present in four and HIV in three patients, suggesting that coinfection with HHV8 and HIV is a pivotal factor in MCD with TTP occurrence.

• Differential diagnosis of retronychia, onychomycosis and onychomadesis Bianca Maria Wahlen, Ayman El-Menyar, Ayman Elkholy Views: 205 HTML: 39 PDF: 211

  Background: In rare dermatology cases the differential diagnosis is challenging, e.g. when one nail is growing below another, the provisional diagnosis could be confusing. It may present as chronic paronychia, candidiasis, bacterial infections, rheumatoid arthritis, psoriasis, subungual tumours, or cysts.
  Case description: We present a case of iatrogenic rupture of the nails of both big toes following a commonly known recommendation from physiotherapists in the initial stages of hallux valgus or chronic arthritis by using kinesio tape to prevent the big toe from fixation in the valgus position. The initial provisional diagnosis of retronychia was revised, and a final diagnosis of onychomadesis was made. The patient’s complaint was solved after around one year without any specific therapy.
  Conclusion: The differential diagnosis for onychomadesis needs a careful and detailed history that may prevent a patient from a frightening diagnosis and painful, long-lasting treatments.