A 2-year-old healthy boy presented to the Emergency Department with 3 days of high fever and poor feeding. Physical examination showed gingivostomatitis. Routine investigations didn't show any abnormality. Due to anorexia and mild dehydration, he was admitted for rehydration. The following day, localized swelling, redness, and tenderness were noted on the second right finger. Bacterial paronychia was considered and intravenous flucloxacillin was started. During hospitalization, it was noted that the child sucked his fingers often. The lesion became larger and vesiculobullous (Figure 1). Surgical incision was performed with drainage of serous fluid.
A 60-year-old man was hospitalised with persistent fever, arm pain, dry cough and cholestasis. Diagnostic workup was remarkable for elevated inflammatory markers. Infectious diseases and autoimmune screening were negative. Imaging modalities excluded a neoplastic aetiology. Liver biopsy was negative for granulomatous or lymphomatous infiltrations. Giant cell arteritis (GCA) was suspected, but temporal artery Doppler ultrasound and biopsy were non-diagnostic. A positron emission tomography scan showed intense metabolic uptake in large vessels suggesting the diagnosis of GCA. Prednisolone was initiated with clinical and analytical improvement. At 1-year follow-up, there were no relapses and the patient remains symptom free.
We present the case of a 53-year-old woman of Portuguese ancestry with a diagnosis of progressive systemic sclerosis (SSc), proposed for haematopoietic stem cell transplantation (HSCT). Clinical re-evaluation when assessing eligibility for the procedure led to the alternative diagnosis of familial amyloid polyneuropathy (FAP). We discuss the clinical presentations of FAP and SSc, focusing on their overlapping and distinguishing features. We emphasize the need for a high level of suspicion in order to establish an early diagnosis of FAP in the absence of a family history, and provide prognostic and genetic counselling.
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