Amniotic band syndrome (ABS) is a set of congenital malformations that mainly affect the limbs and more rarely the skull, face, chest, and abdomen. Two main hypotheses have been proposed to explain the nature of the disorder: an intrinsic and extrinsic factor. We report a newborn with ABS presenting with several malformations involving both hands and foot. In this case, the malformative event localized at the hands and right foot without involvement of any other internal organs and is asymmetric which leads us to suppose the extrinsic factor as cause of the ABS.
Alagille syndrome [ALGS] is an autosomal dominant, complex multisystem disorder that includes a wide range of clinical aspects, most commonly manifest in infancy or early childhood. It is mostly caused by mutations of genes involved in the Notch signaling pathway. The major of clinic manifestations occur in liver, but also other organs, like heart, eye and skeleton can be impaired. Herein we report the story of a family in which four members were diagnosed with ALGS, leading the same gene mutation. The peculiarity of our case lies in the fact that they manifested the disease in different time of their life and with many different symptoms, highlighting the impressive clinical variability of the ALGS and the importance of considering it in the differential diagnosis of liver impairment disease.
IgG4-related disease (IgG4-RD) is a recently discovered immune-mediated fibroinflammatory condition, uncommon in the pediatric population, that could involve multiple organs and induce cancer-like lesions and organ damage. Its main features are multiple injuries in different sites, a dense lymphoplasmacytic infiltrate rich in IgG4 plasma cells, storiform fibrosis, and often high serological concentrations of IgG4. Autoimmune pancreatitis is the most common manifestation, mainly in adults. Two cases of IgG4-RD in children with lymph node localization of disease are reported. Localized or systemic lymph node involvement is common, but lymph node enlargement as the first and only manifestation of IgG4-RD is unusual, and therefore, hard to differentiate from other diseases. IgG4-related lymphadenopathy (IgG4-LAD) is most likely a distinct disease, described as isolated lymphadenopathy, related to the presence of elevated numbers of IgG4-positive plasma cells. Both disorders are likely to be misdiagnosed in children because they are characterized by rare and polymorphic features. IgG4-RD and IgG4-LAD should be considered in the differential diagnosis of disorders characterized by lymphadenopathy of uncertain etiology.
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