A review on Mosaic disorders of FGF23 excess: Fibrous dyspla
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Mosaicism is defined as the presence of two or more cell populations with distinct genotypes within an organism, typically arising from post-zygotic mutational events. Mosaicism is increasingly recognized as an important contributor to human health and disease, in part, due to genomic technologies that have enabled detection and characterization of an ever-growing number of disorders. Because mosaic diseases often involve genetic changes that would be lethal in their germline states, they provide unique opportunities to investigate physiologic processes and gain biological insights. However, these disorders also present unique challenges to diagnosis and management. The variable involvement of multiple tissue types can lead to dramatic phenotypic variations. Diagnoses in mosaic disorders are most often made clinically; however, because they are rare and non-inheritable, clinicians have limited opportunities to gain direct clinical experience.

The purpose of this review is to provide an overview of two mosaic disorders that have striking phenotypic overlap. Fibrous dysplasia/McCune–Albright syndrome (FD/MAS) and the more recently described cutaneous skeletal hypophosphatemia syndrome (CSHS) are both defined by mosaic skin and bone involvement, complicated by increased FGF23 production. These similarities have frequently led to mis-diagnoses, primarily in patients with CSHS who are often assumed to have FD/MAS. The intriguing similarities in skeletal involvement in these genetically distinct disorders have led to novel insights into FGF23 physiology, making an understanding of FD/MAS and CSHS relevant to both clinicians and researchers interested in bone and endocrine disorders.

Source: https://eje.bioscientifica.com/view/journals/eje/182/5/EJE-19-0969.xml
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