Cerebrotendinous xanthomatosis is a rare genetic disorder characterized by a decrease in activity of the hepatic sterol 27-hydroxylase involved in the cholesterol metabolism and excretion. Consequently, lipid (cholesterol/cholestanol) deposition is observed in different regions of the body, especially tendons, central nervous system and eye lens. The present report describes the cases of two sisters affected by this disease, highlighting the main imaging findings.

Keywords: Cerebrotendinous xanthomatosis, Xanthomatosis, Hypercholesterolemia, Magnetic resonance imaging, Computed tomography

OBJECTIVE: To evaluate main imaging findings of subungual glomus tumors. MATERIALS AND METHODS: Retrospective study of eight cases of subungual glomus tumors from the archives of two private clinics in Goiânia, GO, Brazil. Plain radiographs were obtained in five cases, Doppler ultrasonography in five, and magnetic resonance imaging in five cases. RESULTS: Mean age of the patients included in the present study was 39 years, with female predominance (7:1). Tumors didn't present prevalence in any specific finger and in most of cases the tumor was located in the medial subungual region. Plain radiography was positive in five cases, demonstrating pressure erosion. Doppler ultrasonography was positive in five cases, demonstrating a hypoechoic and hypervascularized solid nodule. Magnetic resonance imaging was positive in all of the cases, showing a solid nodule, hypointense on T1-, hyperintense on T2-weighted image, with homogeneous contrast uptake. All the patients underwent surgical excision of the lesion with histopathological confirmation. CONCLUSION: In most of cases, glomus tumors are subungual. The diagnosis is clinical and generally is lately achieved. Imaging methods are useful tools for the early diagnosis besides aiding in the surgical planning, considering that the treatment of choice is surgical excision.

Keywords: Subungual glomus tumors, Magnetic resonance imaging, Ultrasonography