Scurvy is a well-known clinical condition caused by vitamin C deficiency. Although considered a rare disease in high-income countries, it has been recently increasingly reported in children, especially in those with abnormal dietary habits, mental or physical disabilities. We performed an extensive review of the literature analyzing studies published in the last 20 years focusing on clinical features, differential diagnosis and diagnostic delay. Fifteen articles were selected, collectively reporting a total of 166 children. Because of the wide clinical spectrum (musculoskeletal complaints and/or mucocutaneous lesions or systemic symptoms), scurvy can mimic several conditions, including autoimmune diseases, infections, and neoplasia. In addition, frequent findings such as normal nutritional status, anemia or elevated inflammatory markers may guide clinicians towards the abovementioned misdiagnoses. Scurvy should be considered in patients presenting with musculoskeletal complaints, not only in those with risk factors but also in healthy children. A focused dietary history and a careful physical examination, assessing other signs of vitamin C deficiency, are mandatory in these patients. When suspected, the dosage of serum vitamin C is the diagnostic gold standard; furthermore, imaging studies, performed by an expert radiologist, can reveal the typical features of scurvy. Only early diagnosis can avoid unnecessary investigations and potentially fatal complications of the disease.

The limping child frequently represents a diagnostic challenge. The differential diagnosis is broad and should include vitamin C deficiency. Scurvy, resulting from vitamin C deficiency, is the oldest-known nutritional disorder. Despite its rarity in developed countries, scurvy has been increasingly reported in recent years in pediatric patients, particularly those with autism or neurological disabilities. In the present retrospective study, we describe the clinical, laboratory, and radiological features of 8 patients diagnosed with scurvy in the Pediatrics Unit of Meyer Children's University Hospital, between January 2016 and December 2021. The majority (87%) were males, and the median age was 3.7 years. Half of the patients had comorbidities known to be risk factors for scurvy, while the remaining patients were previously healthy. All the children were admitted for musculoskeletal symptoms, ranging from lower limb pain (87%) to overt limping (87%). Mucocutaneous involvement was observed in 75% cases. Microcytic anemia and elevated inflammatory markers were common laboratory findings. Bone radiographs, performed on all patients, were often interpreted as normal at first, with osteopenia (62%) as the most frequent finding; notably, after re-examination, they were reported as consistent with scurvy in four patients. The most common magnetic resonance imaging findings were multifocal symmetrical increased signal on STIR sequence within metaphysis, with varying degrees of bone marrow enhancement, adjacent periosteal elevation and soft tissue swelling. Differential diagnosis was challenging and frequently required invasive diagnostic procedures like bone marrow biopsy, performed in the first three patients of our series. The median time frame between clinical onset and the final diagnosis was 35 days. Notably, the interval times between admission and diagnosis become progressively shorter during the study period, ranging from 44 to 2 days. Treatment with oral vitamin C led to improvement/resolution of symptoms in all cases. In conclusion, scurvy should be considered in the differential diagnosis in a limping child, performing a detailed dietary history and careful physical examination, looking for mucocutaneous lesions. A quick and correct diagnostic path avoids invasive diagnostic procedures and reduces the risk of long-term complications.

Erythema nodosum (EN) is the most frequent form of panniculitis in children. We performed a literature review analyzing studies on pediatric EN published from 1990 to February 2022. EN is rare in pediatric age. It can be primary/idiopathic in 23–55% cases, or secondary in 47–77% cases. Secondary EN is related to a wide variety of conditions including infectious diseases, autoimmune disorders, malignancy, drugs, vaccinations, and pregnancy. The diagnosis of EN is clinical, based on the acute appearance of painful and red nodules localized to lower limbs, bilaterally distributed. If EN is diagnosed, basic work-up should include inflammatory markers, serum aminotransferases, lactate dehydrogenase, creatinine, protein electrophoresis, immunoglobulins, testing for streptococcal infection, and a tuberculin skin test. Based on the medical history and associated manifestations, further laboratory and radiological exams should be performed. The prognosis of EN is excellent, with spontaneous resolution in most patients within 2–6 weeks. Treatment, if needed, is addressed to the underlying condition. Despite being a rare manifestation in children, EN can be isolated or the first manifestation of a systemic or infectious condition. EN diagnosis is clinical, and a high index of suspicion is needed to perform investigations for the underlying disorders.

Autoimmune liver disease (AILD) encompasses autoimmune hepatitis (AIH), autoimmune sclerosing cholangitis (ASC) and primary sclerosing cholangitis (PSC). A unified disease process evolving over time through these entities has been recently suggested. From this perspective, this study aimed to compare the characteristics of childhood-onset AILD at baseline and after a medium-to-long term follow-up period. Paediatric-onset cases of AILD diagnosed between 1992 and 2023 at a tertiary-care centre were reviewed. Patients transitioned to adult-care by the time of data collection were asked for clinical updates. Fifty-five patients were included (AIH = 20, ASC =22, PSC =13). AIH, ASC and PSC exhibited increasing age at the onset (AIH to PSC, p < 0.01). The area under the receiver operating characteristic curve for gamma-glutamyltranspeptidase (GGT) combined with alkaline phosphatase/aspartate aminotransferase (ALP/AST) ratio in predicting sclerosing cholangitis was 0.94, with a sensitivity of 86 % and a specificity of 94 %. At the last follow-up (median duration 5,8 years, interquartile range [IQR] 2,9-10,2, n = 45), 15 patients (33 %) developed portal hypertension, 2 patients (4 %) underwent liver transplantation, no patient died. A cohort of childhood-onset AILD managed at a single centre reveals a temporal trend in the onset of AIH, ASC and PSC, with progressively older ages. Elevated GGT levels combined with a high ALP/AST ratio predict the diagnosis of sclerosing cholangitis. The occurrence of liver-related adverse events in one-third of patients highlights the progressive nature of paediatric-onset AILD.