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*

Hair follicle nevus (HFN) is a rare, benign, follicular hamartoma that most frequently presents as a congenital nodule on the face. We experienced a rare case of HFN on the neck of a 14-year-old boy and performed a pilot immunohistochemical study with cytokeratin 19 (CK19) to compare the staining pattern of hair follicles in HFN and its differential diagnoses, accessory tragus, cervical chondrocutaneous branchial remnants (CCBR) and trichofolliculoma. With hematoxylin and eosin stain, HFN showed numerous tiny hair follicles in the dermis with several sebaceous and eccrine glands, and perifollicular fibrous thickening. With CK19 stain, some hair follicles in HFN and CCBR showed positive expression, a few hair follicles in accessory tragus showed weak expression, and no hair follicles in trichofolliculoma showed expression. The present report supports the view that HFN, accessory tragus and CCBR are within the same spectrum of hamartomas.
Adolescent ; Dermis ; Diagnosis, Differential ; Eccrine Glands ; Eosine Yellowish-(YS) ; Hair Follicle ; Hair ; Hamartoma ; Hematoxylin ; Humans ; Keratin-19 ; Male ; Neck ; Nevus

A true collision tumor is a rare entity composed of two histologically distinct neoplasms coinciding in the same organ. This paper reports a unique case of cerebral collision tumor consisting of two benign components. On the first hand, meningioma which is usually a benign lesion arising from the meningothelial cell in the arachnoidal membrane. On the other, cerebral cavernoma which is a well-circumscribed, benign vascular hamartoma within the brain. To our knowledge, there is no previously documented case of cerebral collision tumor consisting of two benign components. A 56-year-old Caucasian male suffered in 2002 from an atypical meningioma WHO II° located in the left lateral ventricle. Three years after the tumor extirpation, the patient suffered from a hematoma in the fourth ventricle due to a recurrently haemorrhaged cavernoma. In 2008, a recurrence of the tumor in the left lateral ventricle was discovered. Additionally, another tumor located in the quadrigeminal lamina was detected. After surgical resection of the tumor in the left lateral ventricle, the pathological examination confirmed the diagnosis of a collision tumor consisting of components of a meningioma WHO II° and a cavernoma. Postoperatively, no adjuvant treatment was needed and no tumor recurrence is discovered up to the present. A possible explanation for the collision of those two different tumors may be migration of tumor cells mediated by the cerebrospinal fluid. After 5-years of follow-up, there is no sign of any tumor recurrence; therefore, surgical tumor removal without adjuvant therapy seems to be the treatment of choice.
Arachnoid ; Brain ; Cerebrospinal Fluid ; Diagnosis ; Follow-Up Studies ; Fourth Ventricle ; Hamartoma ; Hand ; Hematoma ; Humans ; Lateral Ventricles ; Male ; Membranes ; Meningioma* ; Middle Aged ; Recurrence

A 17-month-old boy was evaluated for a midline mass on his chin. The mass was anchored to the mentalis muscle with a stalk-like structure. The pathological diagnosis of the mass was rhabdomyomatous mesenchymal hamartoma. This is the first report of rhabdomyomatous mesenchymal hamartoma presenting as a midline chin mass in Korean pediatric patients.
Chin* ; Diagnosis ; Hamartoma* ; Head and Neck Neoplasms ; Humans ; Infant ; Male ; Mandibular Neoplasms ; Rhabdomyoma ; Soft Tissue Neoplasms

A 17-month-old boy was evaluated for a midline mass on his chin. The mass was anchored to the mentalis muscle with a stalk-like structure. The pathological diagnosis of the mass was rhabdomyomatous mesenchymal hamartoma. This is the first report of rhabdomyomatous mesenchymal hamartoma presenting as a midline chin mass in Korean pediatric patients.
Chin* ; Diagnosis ; Hamartoma* ; Head and Neck Neoplasms ; Humans ; Infant ; Male ; Mandibular Neoplasms ; Rhabdomyoma ; Soft Tissue Neoplasms

PURPOSE: To analyze the structural and morphological characteristics of retinal astrocytic hamartomas in tuberous sclerosis patients using fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography. CASE SUMMARY: Fundus examination, fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography were performed in three patients with tuberous sclerosis and the morphological and structural characteristics of retinal astrocytic hamartomas were analyzed. In the fundus autofluorescence, type 1 retinal astrocytic hamartoma showed hypofluorescence and type 3 showed central hyperfluorescence and surrounding hypofluorescence. Spectral domain optical coherence tomography showed dome-shaped hyper-reflectivity within the nerve fiber layer and focal adhesion of the vitreous cortex in the type 1 retinal astrocytic hamartoma. No abnormalities were observed in the outer retinal layer and retinal pigment epithelium. In the type 3 retinal astrocytic hamartoma, optical coherence tomography showed disorganization of retinal tissue and posterior shadowing. Intratumoral cavitation and moth-eaten appearance caused by intratumoral calcification were observed and the vitreous cortex adhered to the top of the tumor and showed traction. Retinal arterial sheathing was observed in all cases and hyper- reflectivity of the arterial wall was noted on optical coherence tomography. CONCLUSIONS: Fundus autofluorescence, fluorescein angiography and spectral-domain optical coherence tomography are helpful for the classification and diagnosis of retinal astrocytic hamartomas found in tuberous sclerosis patients as well as for differentiation from other lesions.
Classification ; Diagnosis ; Fluorescein Angiography* ; Fluorescein* ; Focal Adhesions ; Hamartoma* ; Humans ; Nerve Fibers ; Retinal Pigment Epithelium ; Retinaldehyde* ; Shadowing (Histology) ; Tomography, Optical Coherence* ; Traction ; Tuberous Sclerosis*

BACKGROUNDA sensitive method is required to detect retinal hamartomas in patients with tuberous sclerosis complex (TSC). The aim of the present study was to compare the color fundus photography, infrared imaging (IFG), and optical coherence tomography (OCT) in the detection rate of retinal hamartoma in patients with TSC.

METHODSThis study included 11 patients (22 eyes) with TSC, who underwent color fundus photography, IFG, and spectral-domain OCT to detect retinal hamartomas. TSC1 and TSC2RESULTS: The mean age of the 11 patients was 8.0 ± 2.1 years. The mean spherical equivalent was -0.55 ± 1.42 D by autorefraction with cycloplegia. In 11 patients (22 eyes), OCT, infrared fundus photography, and color fundus photography revealed 26, 18, and 9 hamartomas, respectively. The predominant hamartoma was type I (55.6%). All the hamartomas that detected by color fundus photography or IFG can be detected by OCT.

CONCLUSIONAmong the methods of color fundus photography, IFG, and OCT, the OCT has higher detection rate for retinal hamartoma in TSC patients; therefore, OCT might be promising for the clinical diagnosis of TSC.

Adolescent ; Child ; Diagnostic Techniques, Ophthalmological ; Eye Diseases ; diagnosis ; Female ; Fundus Oculi ; Hamartoma ; diagnosis ; Humans ; Male ; Photography ; methods ; Tomography, Optical Coherence ; methods ; Tuberous Sclerosis ; diagnosis

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

Retro-rectal cystic hamartoma (tailgut cyst), is an uncommon congenital developmental lesion, generally located in the retro-rectal space. Its diagnosis and approach is challenging because the retropelvic space is not familiar. We report a 51-year-old woman who presented with paresthesia and pain in perianal area. The magnetic resonance image showed high signal intensity on the T1-weighted image and iso to high signal intensity on the T2-weighted image of the retropelvic space and CT showed sacral bony defect. We chose the posterior approach for removal of the tailgut cyst. Histopathology exam of the retropelvic cyst revealed a multiloculated cyst containing abundant mucoid material lined by both squamous and glandular mucinous epithelium. The patient has recovered nicely with no recurrence. Tailgut cyst needs complete surgical excision for good prognosis. So, a preoperative high-resolution image and co-operation between neurosurgen and general surgeon would help to make safe and feasible diagnosis and surgical access.
Diagnosis ; Epithelium ; Female ; Hamartoma ; Humans ; Middle Aged ; Mucins ; Paresthesia ; Prognosis ; Recurrence