Intrascrotal lipoblastomas are rare, benign paratesticular tumors that arise from embryologic adipose tissue and most often affect young children. Due to the rare nature of these tumors, preoperative diagnosis can be challenging, despite imaging features that are somewhat distinctive with respect to more common lesions (e.g., rhabdomyosarcoma). Prospective diagnosis, however, has potential to influence the operative management strategy (for example, minimally invasive mass excision versus radical inguinal orchidectomy). Since 2016, only two cases of preoperative imaging diagnosis of scrotal lipoblastoma have been published. This case report will describe a unique case of an incidentally found intrascrotal lipoblastoma and discuss the pertinent sonographic features of this rare entity. A 3-year-old boy initially presented for evaluation for an atrophic and undescended right testicle. During that evaluation, the patient was incidentally found to have a palpable left scrotal mass. Subsequent scrotal ultrasound showed an 2.7 x 1.9 x 2.4 cm well circumscribed ovoid mass inferior to the left testicle which was in the inguinal canal. The mass appeared predominantly hypoechoic with mild internal vascularity and also contained areas of hyperechogenicity resembling fat. The ultrasound appearance of the mass was not felt to be typical of a rhabdomyosarcoma (the most common paratesticular mass in children) and other fat-containing masses, including lipoblastoma, were suggested as diagnostic considerations. Complete excision of the left paratesticular mass was successful and subsequent scrotal orchidopexy was performed. Microscopic examination of the mass demonstrated lobules of adipocytes with occasional lipoblasts. Rearrangement of the PLAG1 (8q12.1) locus was detected, confirming the diagnosis of lipoblastoma. Although rare, prospective imaging detection of intrascrotal lipoblastoma may allow for less invasive and morbid surgical intervention and decreased risk for local recurrence. Read More

Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022

Authors: England Elizabeth, Sarma Asha, Thomas John, Liang Jiancong, Snyder Elizabeth

Keywords: Paratesticular tumor, Lipoblastoma

The phakomatoses are neurocutaneous disorders arising from the abnormal development of cells of embryonic ectodermal and mesodermal origin. Although commonly involving central nervous system and cutaneous structures, these disorders can also involve the visceral organs, vascular system, and connective tissue. There are over 30 neurocutaneous entities, each with unique genetic and physical manifestations. Clinical diagnosis may be challenging, as the physical and imaging expressions of disease are variable and broad. Importantly, many affected individuals may present with less common manifestations of disease, and furthermore, less common disorders may be difficult to recognize. The goals of this educational exhibit are to: 1) Review the pathogenesis, genetic underpinnings, and clinical features of phakomatoses. 2) Emphasize lesser-known imaging manifestations of more commonly encountered phakomatoses (e.g., cortical dysplasia in NF2). 3) Detailed review of imaging manifestations of less common phakomatoses (e.g., Parry-Romberg syndrome). Covered conditions will include commonly encountered phakomatoses (neurofibromatosis types 1 and 2, tuberous sclerosis, Sturge-Weber syndrome, Von Hippel Lindau disease etc.), and less commonly encountered entities such as basal cell nevus syndrome and other phakomatosis groups such as vascular phakomatoses (e.g, hereditary hemorrhagic telangectasia, PHACE syndrome, meningioangiomatosis, diffuse neonatal hemangiomatosis); melanophakomatoses (e.g., neurocutaneous melanosis, incontinentia pigmenti); and overgrowth syndromes (PTEN hamartoma tumor syndromes). Read More

Meeting name: SPR 2022 Annual Meeting & Postgraduate Course , 2022

Authors: England Elizabeth, Snyder Elizabeth, Pastakia Devang, Pruthi Sumit, Sarma Asha

Keywords: Phakomatosis, Neurocutaneous disorder