The diagnosis of cystic liver disease has made great progress with the advent of enhanced imaging techniques. At the same time, its management has gradually improved over the past few decades, providing the basis for the development of appropriate diagnostic and treatment guidelines. To this end, the European Association for the Study of the Liver has developed clinical guidelines for the diagnosis and treatment of non-infectious cystic liver disease. This guideline put forward recommendations based on an in-depth review of the relevant literature for addressing clinical issues, including the diagnosis and treament of hepatic cysts, hepatic mucocystic tumors, biliary hamartomas, polycystic liver disease, Caroli disease or Caroli syndrome, biliary hamartomas, and peribiliary cyst.
Humans ; Liver Diseases/pathology* ; Cysts/pathology* ; Caroli Disease/diagnosis* ; Liver Neoplasms/therapy* ; Hamartoma

Objective: To investigate the clinicopathological features, diagnosis and differential diagnosis of ectopic meningothelial hamartoma (EMH). Methods: Three cases of EMH diagnosed in the First Affiliated Hospital of Nanjing Medical University from January 2014 to December 2020 were enrolled. All cases were evaluated by clinical and imaging features, HE and immunohistochemical staining, and the relevant literature was reviewed. Results: There were one male and two female patients, aged 2, 67 and 19 years, respectively. Clinically, they presented as skin masses in the head and face region (two cases) and sacro-coccygeal region (one case). Grossly, the lesions ranged in size from 1.6 cm to 8.9 cm. Microscopically, the lesions were ill-defined, and located in the dermis and subcutis, and showed pseudovascular channels lined by monolayer of cuboidal to flattened epithelium with mild atypia, with variable cystic cavity formation. There was prominent interstitial fibrosis. Concentric, lamellated, onion skin-like arrangement with short spindle or ovoid cells and psammoma bodies were noted. Immunohistochemically, these cells were strongly positive for SSTR2, EMA, vimentin and progesterone receptor. Ki-67 positive index was low, approximately 1%. Conclusions: EMH is uncommon. Definitive diagnosis relies on histopathologic examination. The importance in recognizing the lesions is to differentiate from other more aggressive tumors.
Choristoma/pathology* ; Diagnosis, Differential ; Female ; Hamartoma/pathology* ; Humans ; Male ; Meninges ; Skin Diseases/pathology*

Adult ; Facial Neoplasms ; diagnosis ; etiology ; pathology ; Fibroma ; diagnosis ; etiology ; pathology ; Forehead ; Hamartoma Syndrome, Multiple ; complications ; diagnosis ; pathology ; Humans ; Male ; Mouth Neoplasms ; diagnosis ; etiology ; Papilloma ; diagnosis ; etiology ; Skin Neoplasms ; diagnosis ; etiology ; pathology

No abstract available.
Adult ; Biopsy ; *Brunner Glands/pathology/surgery ; Duodenal Diseases/*complications/diagnosis/surgery ; Duodenal Obstruction/diagnosis/*etiology/surgery ; Duodenoscopy ; Gastric Outlet Obstruction/diagnosis/*etiology/surgery ; Hamartoma/*complications/diagnosis/surgery ; Humans ; Male ; Tomography, X-Ray Computed ; Treatment Outcome

Biliary hamartoma and congenital hepatic fibrosis belong to fibrocystic disorders originating from ductal plate malformation. A 66-year-old man who had incidentally been diagnosed with biliary hamartoma two years ago presented to us with recurrent acute cholangitis. In the first episode, he had presented with septic shock and was treated with endoscopic retrograde cholangiopancreatography (ERCP) and cholecystectomy under the diagnosis of acute cholecystitis and cholangitis. However, during a two-month follow-up period, the patient experienced four episodes of acute cholangitis. Because he showed normal ERCP, and biliary hamartoma is usually asymptomatic, a liver biopsy was performed. Pathology revealed combined features of biliary hamartoma and congenital hepatic fibrosis, characterized as periportal fibrosis and intrahepatic ductular dysplasia. During follow-up for the last six months, he had experienced two episodes of acute cholangitis and was treated with antibiotics. A follow-up abdominal CT scan revealed aggravated hepatosplenomegaly compared to that of two years ago. We report a case of combined congenital hepatic fibrosis and biliary hamartoma and a literature review.
Aged ; Anti-Bacterial Agents ; Biopsy ; Cholangiopancreatography, Endoscopic Retrograde ; Cholangitis* ; Cholecystectomy ; Cholecystitis, Acute ; Diagnosis ; Fibrosis* ; Follow-Up Studies ; Hamartoma* ; Humans ; Liver ; Pathology ; Shock, Septic ; Tomography, X-Ray Computed

No abstract available.
Diagnosis, Differential ; Fluorescein Angiography ; Fundus Oculi ; Hamartoma/*congenital/diagnosis ; Humans ; Male ; Retinal Diseases/*congenital/diagnosis ; Retinal Pigment Epithelium/*pathology ; Retinal Telangiectasis/*diagnosis ; Tomography, Optical Coherence ; Young Adult

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

Happle-Tinschert syndrome is a disorder causing unilateral segmentally arranged basaloid follicular hamartomas of the skin associated with ipsilateral osseous, dental and cerebral abnormalities including tumors. Although a case with hemimegalencephaly was previously described, this is the first report of Happle-Tinschert syndrome with discrepant short left leg, ipsilateral skin lesions, hemimegalencephaly and frontal polymicrogyria.
Basal Cell Nevus Syndrome/diagnosis ; Child ; Dental Enamel/abnormalities ; *Frontal Lobe/pathology ; Hamartoma/*diagnosis/pathology ; Humans ; Leg Length Inequality/*diagnosis ; Magnetic Resonance Imaging ; Male ; Malformations of Cortical Development/*diagnosis ; Skin Diseases/*diagnosis/pathology ; Syndrome

OBJECTIVE: To describe and analyze the clinical features of nasal respiratory epithelial adenomatoid hamartom and improve the levels of diagnosis and treatment. METHOD: Fourteen cases of nasal respiratory epithelial adenomatoid hamartom confirmed by pathology were collected and analyzed. RESULT: In 14 cases, primary complaint of Hyposmia(or Anosmia)and nasal obstruction were occured in 13 and 11 cases respectively. Four cases had past history of endoscopic sinus surgery because of the diagnosis of nasal polyps. Polypoid neoplasms could be seen in the bilateral olfactory clefts. Sinus CT showed soft tissue shadows in bilateral nasal cavity and mucous membrane thickening in different sinus. Endoscopic sinus surgery were utilized to eliminate focus in all cases. All cases weren t recurred after 2-20 months' following-up visitings. CONCLUSION Nasal respiratory epithelial adenomatoid hamartom is so rare that clinical and pathological doctors have limited knowledge of it. It has its own characteristics from the clinical symptoms, signs to sinus CT although they are nonspecific. So we should improve the understanding about it to avoid misdiagnosis or missed diagnosis.
Diagnosis, Differential ; Endoscopy ; Hamartoma ; diagnosis ; pathology ; surgery ; Humans ; Nasal Cavity ; Nasal Obstruction ; Nasal Polyps ; Neoplasm Recurrence, Local ; Nose Neoplasms ; diagnosis ; pathology ; surgery ; Paranasal Sinuses

A 5-year-old girl was diagnosed with neurofibromatosis type 2 (NF-2) due to multiple neurofibromas, cafe-au-lait spots, and schwannomas of the brain. During ophthalmologic evaluation, a posterior subcapsular cataract and a gray-green colored subretinal lesion were found in right eye. Fluorescein angiography (FA) revealed a combined hamartoma of the retina and retinal pigment epithelium (CHRRPE). At age 9, she underwent cataract surgery. At this time FA and spectral-domain optical coherence tomography (SD-OCT) were taken. The SD-OCT showed an elevated hyperreflective mass in the retina with prominent attenuation of the inner and outer retina, but minimal attenuation in the photoreceptor layers. The underlying retina appeared to be disorganized and thick (791 microm). This is the first case report of SD-OCT imaging of a CHRRPE associated with NF-2 in a pediatric patient. By using SD-OCT in this patient, we could obtain detailed tumor characteristics, and SD-OCT may be helpful in the diagnosis and management of CHRRPE.
Child, Preschool ; Diagnosis, Differential ; Female ; Hamartoma/complications/*diagnosis ; Humans ; Neurofibromatosis 2/*complications/diagnosis ; Retinal Diseases/complications/*diagnosis ; Retinal Pigment Epithelium/*pathology ; Tomography, Optical Coherence/*methods ; Visual Acuity