Sclerosing angiomatoid nodular transformation of the spleen: CT and MRI features with pathologic correlation.

OBJECTIVE: The objective of this study was to describe the CT and MRI features of sclerosing angiomatoid nodular transformation of the spleen with pathologic correlation. MATERIALS AND METHODS: Nine patients with surgically resected and pathologically confirmed sclerosing angiomatoid nodular transformation were included in the study. Clinical history was reviewed to determine patient demographics and symptoms at presentation. Gross pathologic, histologic, and immunohistochemical findings were recorded. CT (n = 9) and MRI (n = 4) examinations were evaluated for lesion shape and margins, intrinsic characteristics, and enhancement pattern. RESULTS: Patients included were six women and three men, with a mean age of 41.2 years. Pathologic features of sclerosing angiomatoid nodular transformation included multiple angiomatous nodules in a radiating pattern with a central stellate fibrous scar and evidence of hemosiderin deposition. On imaging, the lesions were solitary and round, 78% having a lobulated margin. They were heterogeneously hypoenhancing during the arterial and portal venous phases of contrast-enhanced CT or MRI, with peripheral enhancing radiating lines in 88% of lesions. They showed progressive enhancement and were isoenhancing or hyperenhancing in the delayed phase. A hypoenhancing central scar was shown on imaging in 22% of lesions. All lesions were hypointense on T2-weighted images. CONCLUSION: Sclerosing angiomatoid nodular transformation shows characteristic CT and MRI findings reflecting the underlying pathology. Typical features are a solitary, round, lobulated mass with early peripheral enhancing radiating lines and progressive enhancement of the angiomatous nodules; delayed enhancement of the fibrous tissue; and hypo-intense T2 signal intensity from hemosiderin deposition.

Eruptive vellus hair cysts in a patient with Lowe syndrome.

We present a 20-year-old patient with Lowe syndrome and eruptive vellus hair cysts. Also known as oculocerebrorenal syndrome, it is an X-linked recessive disorder localized to Xq24-26.1. The phenotypic features of this disorder are Fanconi-type renal failure, mental retardation, and various eye abnormalities. The causative gene, oculocerebrorenal-Lowe 1 (OCRL1), encodes a phosphatase whose function is to regulate the phosphatidylinositol pool of intracellular signaling molecules that regulate the release of lysosomal enzymes in tissues. Low levels of this phosphatase lead to the extracellular release of lysosomal enzymes in organs such as the eye, brain, and kidney, with the resulting tissue damage most likely accounting for the characteristic phenotype. Our patient with Lowe syndrome had several discrete, dome-shaped papules on his midchest. They clinically resembled either eruptive vellus hair cysts or steatocystoma multiplex. Histologically they were most diagnostic of eruptive vellus hair cysts, which are not a known feature of Lowe syndrome. We present a hypothesis based on the known biochemical deficiencies resulting from the mutations in the OCRL1 gene, which may account for the cyst formation. To our knowledge, this is the first reported case of skin findings associated with this disorder.