Tuberous sclerosis complex (TSC) is an autosomal dominant disorder caused by mutation of one of two genes, TSC1 (encoding hamartin, 9q34) and TSC2 (encoding tuberin, 16p13). It invades the central nervous system and various parts of the body, causing various symptoms. Crohn's disease (CD) is a chronic immune-mediated disease that has not been clearly elucidated. It is thought to be caused by an excessive immune response of the body to bacteria that normally exist in the digestive tract with genetic factors. No cases have been reported in which both of the above-mentioned diseases occurred simultaneously. We report a case of CD in a patient with TSC. A 12-year-old boy was brought to our hospital because of abdominal pain. Skin lesions were observed in the TSC. Fundus examination revealed a hamartoma in the right retina. Brain magnetic resonance imaging revealed a subendothelial giant cell astrocytoma (SEGA). On the basis of these findings, he was diagnosed as having TSC. Blood test results showed increased levels of inflammatory markers. On abdominal ultrasonography, his colon walls were observed to be thickened with increased vascularity of the proximal ascending colon, ileocecal valve, and terminal ileum. Colonoscopy revealed discontinuous ulcerations and inflammations of the ileum, IC valve, and cecum, similar to those found in CD. Everolimus was administered orally for the SEGA but was discontinued frequently owing to the exacerbation of CD. The possibility of CD should be kept in mind in patients with TSC considering to undergo treatment for SEGA.
Abdominal Pain ; Astrocytoma ; Bacteria ; Brain ; Cecum ; Central Nervous System ; Child ; Colon ; Colon, Ascending ; Colonoscopy ; Crohn Disease* ; Everolimus ; Gastrointestinal Tract ; Giant Cells ; Hamartoma ; Hematologic Tests ; Humans ; Ileocecal Valve ; Ileum ; Inflammation ; Magnetic Resonance Imaging ; Male ; Retina ; Skin ; Tuberous Sclerosis* ; Ulcer ; Ultrasonography

We report the case of a giant hypothalamic hamartoma with a large intracranial cyst in a neonate. On ultrasonography, the lesion presented as a lobulated, mass-like lesion with similar echogenicity to the adjacent brain parenchyma, located anterior to the underdeveloped and compressed left temporal lobe, and presenting as an intracranial cyst in the left cerebral convexity without definite internal echogenicity or septa. The presence of a hypothalamic hamartoma and intracranial neurenteric cyst were confirmed by surgical biopsy. The association of a giant hypothalamic hamartoma and a neurenteric cyst is rare. Due to the rarity of this association, the large size of the intracranial cyst, and the resulting distortion in the regional anatomy, the diagnosis of the solid mass was not made correctly on prenatal high-resolution ultrasonography.
Anatomy, Regional ; Biopsy ; Brain ; Central Nervous System Cysts ; Diagnosis ; Hamartoma* ; Humans ; Infant, Newborn* ; Magnetic Resonance Imaging ; Neural Tube Defects ; Temporal Lobe ; Ultrasonography

Breast hamartomas are typically a benign condition and rarely develop into malignant lesions. The coexistence of carcinoma and a breast hamartoma is rare; only 15 cases have been reported in the literature. Here, we report a case of invasive ductal carcinoma associated with hamartoma in a 60-year-old woman. Mammography, ultrasonography and magnetic resonance imaging showed typical features of a breast hamartoma and a suspicious mass with microcalcifications arising within the hamartoma.
Breast ; Carcinoma, Ductal* ; Female ; Hamartoma* ; Humans ; Magnetic Resonance Imaging ; Mammography ; Middle Aged ; Ultrasonography

The hamartomatous polyps in Peutz-Jeghers syndrome may have malignant potential. To differentiate between hamartomatous and adenomas polyps, vascular characterization can be assessed using noninvasive procedures, such as contrast-enhanced ultrasound (CEUS). The neo-angiogenic characteristics of colorectal adenomas and carcinomas are expressed as an anarchic vascular pattern observed on CEUS. Using CEUS in a patient with Peutz-Jeghers syndrome, we describe for the first time the vascularization of a hamartomatous colonic polyp that exhibits a hierarchy branching pattern.
Adult ; Colonic Polyps/etiology/*ultrasonography ; Contrast Media/diagnostic use ; Female ; Hamartoma/blood supply/etiology/*ultrasonography ; Humans ; Peutz-Jeghers Syndrome/complications/*ultrasonography ; Ultrasonography, Doppler, Color

Splenic hamartoma is a very rare benign tumor, which is usually found incidentally after splenectomy or autopsy. Although percutaneous needle biopsy can be performed, it carries a high risk of bleeding after the procedure. Therefore, diagnosis is usually made by surgical resection. Herein, we report a case of splenic hamartoma diagnosed by magnetic resonance imaging and contrast-enhanced ultrasonography, which enables visualization of the unique signals of microbubbles in the vessels in real time. Relevant literature is also reviewed.
Adult ; Antigens, CD31/metabolism ; Antigens, CD34/metabolism ; Contrast Media ; Female ; Hamartoma/*diagnosis/pathology/ultrasonography ; Humans ; Immunohistochemistry ; Magnetic Resonance Imaging ; Splenic Diseases/*diagnosis/pathology/ultrasonography ; Tomography, X-Ray Computed

Cowden syndrome is an uncommon, autosomal dominant disease which is characterized by multiple hamartomas of the skin, mucous membrane, brain, breast, thyroid, and gastrointestinal tract. The diagnosis of Cowden syndrome implicates an increased risk of developing breast cancer. We report a case of a 22-year-old woman with Cowden syndrome that presented as breast cancer with concomitant bilateral exuberant benign masses in both breasts.
Arteriovenous Malformations/radiography ; Breast Neoplasms/*complications/*diagnosis/ultrasonography ; DNA/analysis ; DNA Mutational Analysis ; Diagnosis, Differential ; Female ; Hamartoma Syndrome, Multiple/*complications/*diagnosis/genetics/ultrasonography ; Humans ; PTEN Phosphohydrolase/genetics ; Thyroid Neoplasms/radiography ; Tomography, X-Ray Computed ; Young Adult

No abstract available.
Aged ; Bile Duct Diseases/pathology/*radiography/ultrasonography ; Female ; Hamartoma/pathology/*radiography/ultrasonography ; Humans ; Liver/ultrasonography ; Magnetic Resonance Imaging ; Male ; Middle Aged ; Tomography, X-Ray Computed

Congenital epulis, a kind of hamartoma, is a very rare tumor, which appears in front of maxillary alveolar ridge in most cases, and accompanies no malformations. As the tumor protrudes from the oral cavity, it may lead to respiratory difficulties and feeding problems. Therefore it is important for pregnant women to receive comprehensive prenatal counseling with accurate diagnosis of the fetal oral tumor. We report a rare case of prenatal detection of oral tumor with a brief review of literatures, which was confirmed to be a congenital epulis or granular cell tumor after birth.
Alveolar Process ; Counseling ; Female ; Gingival Neoplasms ; Granular Cell Tumor ; Hamartoma ; Humans ; Mouth ; Parturition ; Pregnant Women ; Ultrasonography, Prenatal

Mammary hamartomas are typically a benign condition and rarely develop into malignant lesions. Only 14 cases of carcinomas associated with a hamartoma have been documented in the literature. In this case report, we describe a case of invasive ductal carcinoma within a hamartoma in a 72-year-old woman. Mammography, ultrasonography, and magnetic resonance imaging showed the features of a typical hamartoma with a suspicious mass arising in it. This case illustrates the importance of identification of unusual findings in a typical mammary hamartoma on radiologic examinations.
Aged ; Breast Neoplasms/*diagnosis/surgery ; Carcinoma, Ductal, Breast/*diagnosis/surgery ; Diagnosis, Differential ; Female ; Hamartoma/*diagnosis/surgery ; Humans ; Magnetic Resonance Imaging ; Mammography ; Mastectomy, Modified Radical ; Neoplasm Invasiveness ; Ultrasonography, Mammary

OBJECTIVE: A hepatic mesenchymal hamartoma is an uncommon benign tumor in children and little is known about the spectrum of its radiological features. The purpose of this study is to describe the spectrum of radiological features of a hepatic mesenchymal hamartoma in children. MATERIALS AND METHODS: Thirteen children with a pathologically confirmed hepatic mesenchymal hamartoma (M:F = 7:6; mean age, 3 years 2 months) were included in our study. Ultrasonography (US) was performed in nine patients including color and power Doppler US (n = 7). CT scans were performed in all patients. We evaluated the imaging findings of the hepatic mesenchymal hamartomas and the corresponding pathological features. RESULTS: Each patient had a single tumor (mean diameter: 13 cm [1.8-20 cm]). On CT and/or US, four patients (31%) had a "multiseptated cystic tumor", five patients (38%) had a " mixed solid and cystic tumor", and four patients (31%) had a "solid tumor." The septa of the cystic portion were thin in the multiseptated cystic tumors and irregularly thick in the mixed solid and cystic tumors as seen on US. On a post-contrast CT scan, solid portions or thick septa of the tumors showed heterogeneous enhancement. The amount of hepatocytes was significantly different among the three tumor groups according to the imaging spectrum (p = 0.042). CONCLUSION: A hepatic mesenchymal hamartoma in children can show a wide spectrum of radiological features, from a multiseptated cystic tumor to a mixed solid and cystic tumor, and even a solid tumor.
Child ; Child, Preschool ; Contrast Media/administration & dosage ; Female ; Hamartoma/*diagnosis ; Humans ; Infant ; Liver/*radiography/ultrasonography ; Liver Neoplasms/*diagnosis ; Male ; Mesoderm/*radiography/ultrasonography ; Observer Variation ; Radiographic Image Enhancement/methods ; Retrospective Studies ; Tomography, X-Ray Computed/methods ; Ultrasonography, Doppler, Color/methods