Fibrodysplasia Ossificans Progressiva: A Challenging Diagnosis.

Fibrodysplasia ossificans progressiva (FOP) is an ultrarare genetic condition characterized by extraskeletal bone formation. Most of the musculoskeletal characteristics of FOP are related to dysregulated chondrogenesis, with heterotopic ossification being the most typical feature. Activating mutations of activin receptor A type I (ACVR1), a bone morphogenetic protein (BMP) type I receptor, are responsible for the skeletal and nonskeletal features. The clinical phenotype is always consistent, with congenital bilateral hallux valgus malformation and early-onset heterotopic ossification occurring spontaneously or, more frequently, precipitated by trauma. Painful, recurrent soft-tissue swellings (flare-ups) precede localized heterotopic ossification that can occur at any location, typically affecting regions near the axial skeleton and later progressing to the appendicular bones. A diagnosis of FOP is suspected in a proband presenting with hallux valgus malformation, heterotopic ossification, and confirmed by the identification of a heterozygous pathogenic variant in the ACVR1/ALK2 gene. Avoiding unnecessary surgical procedures, prescribing prophylactic corticosteroids, preventing falls, and using protective headgear represent essential interventions for care management. Different classes of medications to contain acute inflammation flare-ups have been proposed, with high dose corticosteroids and nonsteroidal anti-inflammatory drugs usually utilized. Here, we report on two FOP patients, with typical clinical features summarizing the principal aspects of FOP, and we aim to provide comprehensive information outlining some unusual findings, possibly contributing to FOP's definition and management.

Multisystem inflammatory syndrome in children. An emerging clinical challenge for pediatric surgeons in the COVID 19 era.

BACKGROUND/PURPOSE: Multisystem inflammatory syndrome in children (MIS-C) is a potentially life-threatening condition occurring 2-6 weeks after Coronavirus disease 2019 (COVID-19) in previously healthy children and adolescents, characterized by clinical and laboratory evidence of multiorgan inflammation. We reported the case of a 6-year-old child presented with acute abdomen and then diagnosed with MIS-C. In addition, to better portray this new entity, we performed a systematic review of MIS-C gastrointestinal features and particularly on those mimicking surgical emergencies. METHODS: We described the clinical presentation, the diagnostic approach and the therapeutic outcomes of our MIS-C patient. Parallel to this, we conducted a systematic literature search using Google Scholar, PubMed, EMBASE, Scopus, focusing on gastrointestinal MIS-C. RESULTS: Our patient was initially assessed by the surgical team due to his query acute abdomen. Following the diagnosis of MIS-C with myocarditis, intravenous methylprednisolone (2 mg/Kg/day) and intravenous immunoglobulins (2 gr/Kg single infusion) were promptly started, leading to clinical improvement. According to our literature search, patients with MIS-C have a high rate of severe abdominal symptoms resembling surgical emergencies (appendicitis, obstruction, etc.) and a not negligible number of those patients have been surgically explored with variable findings. CONCLUSIONS: We encourage pediatric surgeons in the upcoming months of COVID-19 pandemic to evaluate myocardial function prior to surgical abdominal exploration. In children with query acute abdomen, MIS-C should be promptly ruled out in order to avoid unnecessary surgeries that could worsen the already frail outcome of this new syndrome. Nevertheless, it should be considered that MIS-C might well encompass complications (e.g. appendicitis, segmental intestinal ischemia) which need swift surgical treatment.