Singleton‐Merten syndrome: A rare cause of femoral head necrosis

Abstract

Singleton-Merten syndrome (SMS) is a type I interferonopathy. In this report, we disclose the first-to the best of our knowledge-direct association of SMS with femoral head necrosis (FHN). The following case report presents the condition of a 38-yearold male suffering from SMS with FHN, characterized by acute symptoms and rapid disease progression. As per the recommendations of the Association Research Circulation Osseous (ARCO) and the S3-guidelines, we successfully treated the FHN with core decompression. Our histological results correlate with the changes described in medical literature in patients with SMS and MDA5-knockout in vivo experiments such as osteopenia, widened medullary cavity, and thin cortical bone. Moreover, the conducted immunohistochemistry shows strong CD56 positivity of the osteoblasts and osteocytes, as well as significant CD68 and CD163 positivity of the middle-sized osteoclasts. Collectively, these findings suggest an underlying syndrome in the FHN.A six-month post-operative follow-up revealed complete recovery with the absence of the initial symptoms and ability to resume normal daily activities. Taken together, our findings suggest that SMS is an additional cause of FHN in young adults. Early detection and adequate treatment using well-established joint-preserving techniques demonstrate a favorable improvement of the patient's clinical condition.

Early-Age Manifestation of Singleton Merten Syndrome With Systemic Lupus Erythematosus Features: A Case Report

“…Singleton Merten syndrome (SMS) is known as an autosomal-dominant disorder that is characterized mainly by aortic calcification, dental malformation, and skeletal abnormalities which manifest in early life [ 1 ]. SMS is a type I interferonopathy that can present also with other clinical findings including muscle weakness, fever of unknown origin, and short stature due to the growth lag.…”