Cystic Hamartoma Research Articles

Folliculosebaceous cystic hamartoma of the ear and periauricular skin

Folliculosebaceous cystic hamartoma (FSCH) is a rare, recently recognized cutaneous hamartoma comprised of follicular, sebaceous and mesenchymal elements. Fewer than 30 cases have been reported to date. The authors present two additional cases of FSCH.

Folliculosebaceous cystic hamartoma associated with melanocytic nevus

Folliculosebaceous cystic hamartoma associated with melanocytic nevus

Cystic hamartoma of the tuber cinereum

Dear Editor, Hamartomas of the tuber cinereum have been reported in the past [1]; however, a cyst of the tuber cinereum per se has never been reported. We report a case of cystic hamartoma of the tuber cinereum along with its management. A 17-year-old male presented with complaints of generalised tonic–clonic seizures 5 years ago and subnormal intelligence. There was progressive cognitive decline with somnolence for 6 months. The visual acuity was difficult to assess; however, he would communicate with relatives and hold objects when asked to without groping. The right pupil reacted well to light and the left one was non-reactive suggesting left visual loss. It was not possible to examine the fundus. A magnetic resonance imaging (MRI) brain scan showed a non-enhancing cystic lesion (5×5 cm) occupying the interpeduncular and prepontine cistern with splaying of cerebral peduncles, pushing the posterior hypothalamus anterosuperiorly and the mamillary bodies posterosuperiorly (Fig. 1a, b). There was no significant change in the size of the lesion when compared to the CT scan of the head done 3 years ago. There were no endocrine abnormalities. In view of progressive cognitive decline and possible visual compromise, he underwent surgery through the right transylvian route. The carotico-optic, inter-optic and carotico-oculomotor space were occupied by a cystic lesion with a smooth wall resembling a normal brain. A small part of this normal-looking wall was biopsied letting out clear fluid. The fluid was similar to cerebrospinal fluid. The cyst collapsed, though partly, and the wall could be traced to the tuber cinereum. The stalk was not seen separately. The Omaya reservoir was placed into the cyst through the right frontal burr hole. Histopathology revealed normal glial tissue with a few normal-looking neurons. There was no epithelial lining seen. There was no significant improvement in the patient's clinical status, and he continued to remain in the same status even after 3 months. The seizure frequency, however, reduced. Post-operative scan revealed a minimal decrease in the size of the lesion. Re-aspirating the cyst did not help. A hamartoma is a non-neoplastic heterotopic nodule resembling the normal hypothalamic grey matter. It results from a faulty development in an organ and is composed of an abnormal mixture of its constituent elements. It develops and grows at virtually the same rate as do the normal components of the organ of its origin. It does not compress adjacent tissues. During the fifth and sixth week of gestation, the ventral aspect of the neuroaxis approaches the anterior tip of the end of the notochord. Hypothalamic hamartomas of this region may be due to tissue displacement during that period [1]. The clinical features of the lesions in this region are: (1) isosexual precocious puberty (commonest presentation); (2) seizure disorders, gelastic epilepsy and partial complex P. S. Salunke (*) : S. Sura Department of Neurosurgery, PGIMER, Chandigarh 160012, India e-mail: drpravin_salunke@yahoo.co.uk

Diffuse chondroid malformation of the lung: Cases series of a hitherto undescribed congenital lung disease

Congenital chondroid lesions of the lung are rare pathological findings. They are a constant feature of lung malformations such as giant cystic pulmonary chondroid hamartoma, chondroid cystic malformation, and in the "cartilaginous variant" of congenital adenomatoid malformation. All of these present as a large single thoracic mass.We present the cases of three males and two females with hitherto undescribed diffuse chondroid lung disease, all but one of whom had neonatal respiratory distress syndrome with interstitial syndrome on chest radiograph. The pathological findings were similar in all patients, showing large areas of disorganized lung parenchyma containing diffusely distributed mature cartilage islands. With a mean follow-up of 6 years, all patients had a favorable outcome. This diffuse chondroid lung disease appears to be a new entity whose initial presentation mimicked interstitial lung disease without the usual clinical, radiological, and histological features. We speculate that it could be part of a clinical spectrum between malformative chondroid lung cyst and congenital pulmonary airway malformation.

A Revaluation of Folliculosebaceous Cystic Hamartoma: The Histopathological and Immunohistochemical Features

The histogenesis of folliculosebaceous cystic hamartoma (FSCH), including the origin of the frequently associated adipocytes and other mesenchymal components, remains unclear. There are controversial problems regarding FSCH, such as the relationship between FSCH and trichofolliculoma (TF), and the exact concept of sebaceous TF. Fourteen FSCHs and 1 sebaceous TF were revaluated for the histopathology and studied for immunohistochemical profile of various cytokeratins, hair follicular stem cell markers, and others. The nestin expression was partly upregulated in the sebaceous duct structures and the proliferating spindle cells in the surrounding connective tissue in some lesions. S-100 protein staining clarified the presence of lipogenesis in these nestin-expressed lesions, and the nestin-positive spindle cells were also seen around the immature adipocytes. Some FSCHs showed the focal follicular differentiation, where no signs of catagen or telogen stage were seen. One peculiar case showed both FSCH and TF features equally. The possibility that the adipocytes and other mesenchymal components in FSCHs originated from the nestin-positive multipotent stem cells was suggested. It is not convincing that FSCH and TF represent a chronological change in the spectrum of the same condition. Each FSCH and TF is therefore considered to be a distinctive entity. They may develop under a similar pathogenesis differing from each other in the direction of fundamental differentiation. In contrast to the TF lesions, the unusual upregulation of nestin expression is occasionally seen in FSCH lesions, including their stromas, which may thus result in the production of various kinds of mesenchymal components in FSCHs.

Giant and complicated variants of cystic bile duct hamartomas of the liver: MRI findings and pathological correlations

To describe a new category of liver cyst we propose calling "giant bile duct hamartoma (giant-BDH)" and to provide a more complete record of the magnetic resonance imaging (MRI) features of BDHs with potential for clinical impact. This study was Institutional Review Board (IRB)-approved and Health Insurance Portability and Accountability Act (HIPPA)-compliant. Fifteen patients were identified with surgical liver pathology in keeping with complicated BDH and MRI findings of giant cysts. In all, 14/15 patients presented with pain that resolved in 14/14 with surgery. Imaging features common to pretreatment cysts included sharply defined, lobulated margins with thin, smooth rim-enhancement. Treated symptomatic cysts measured 9.8 cm on average and 21.6 cm maximum. The 14/15 patients had coexistent <2.0 cm BDH. Elevated T1 signal corresponded with hemorrhagic cyst content (10/15 patients); cyst-wall rim-enhancement corresponded with histological findings of inflammation (15/15), fibrocystic changes (12/15), and smaller BDH in the adjacent liver (13/15). Histology of giant-BDH cyst walls corresponded with complicated BDH in 15/15. The incidence of symptomatic-treated BDH at our institution was 0.4%. BDH is a benign hepatic cystic lesion that may undergo cystic enlargement, internal hemorrhage, and clinically present with abdominal pain treatable by minimally invasive laparoscopic fenestration. Complicated giant-BDH coexists with smaller BDH and the MRI features of giant-BDH are characteristic.

Cystic mesenchimal hamartoma of the liver in two years old patient: Case report

Mesenchymal hamartoma is an uncommon benign hepatic tumor arising from the mesenchyme of the portal triad. This lesion is relatively uncommon, representing 5% of all primary hepatic pediatric tumors. This form of hamartoma usually presents before the age of 2 years, typically with abdominal swelling as the initial symptom. The classic management of these lesions has been excision either by hepatic lobectomy or wedge resection. We present a case of 2-year-old girl with a right hepatic lobe tumor, 66 x 57 x 71 in diameter that was completely removed by right hepatic lobectomy.

Primary liver tumors in the pediatric age group: an angiographic challenge

Eleven children, ranging in age from three months to fifteen years, with primary liver tumors were examined by large volume direct magnification arteriography (2.5--3 ml of contrast material per 1 kg body weight for a single selective study). The following tumors were found: hepatoblastoma (1), hepatocellular carcinoma of the adult type, hepatoma (3), infantile hemangioendothelioma (4), hemangiosarcoma (1), focal nodular hyperplasia (1) and cystic mesenchymal hamartoma (1). Some of the tumors have a quite typical angiographic appearance as infantile hemangioendothelioma, hemangiosarcoma, cystic mesenchymal hamartoma. The other highly vascular neoplasms show unspecific signs of vascular malignant tumors; subtile angiographic signs may, however, be present and help in the differential diagnosis.

Mesenchymal cystic hamartoma of the liver: MR imaging with pathologic correlation

This report describes a case of mesenchymal cystic hamartoma of the liver with diagnostic imaging work-up using only ultrasound and MRI. We demonstrate an approach starting from the pediatrician's physical exam culminating in surgical resection and pathologic confirmation with an emphasis on MR imaging.

Cutaneous Solitary Neural Hamartoma: Report of an Unusual Case

Cutaneous hamartomas are tumor-like proliferations of tissue indigenous to the organ but arranged abnormally. There are examples in the literature of cutaneous hamartomas composed of a variety of different components. To our knowledge, there is no previous report of such cutaneous solitary neural hamartoma. Our case occurred in a 51-year-old man with pain and paresthesia in the right shoulder associated with a nodule that was surgically removed. There was no history of trauma, other skin nodules, neurofibromatosis, or tuberous sclerosis. Histologically, there was an unencapsulated nodule, composed of mature nerve bundles noted abnormally high within the papillary dermis, extending to the reticular dermis with periadnexal distribution. Immunohistochemically, the nerve bundles were positive for S-100, including the smaller nerve twigs, and the perineurium was highlighted by epithelial membrane antigen, reminiscent of normal peripheral nerves. Although, neural components including mature nerve bundles have been described in various cutaneous hamartomas, this represents a peculiar case of a cutaneous mature peripheral nerve hamartoma. Whether this is related to other entities of cutaneous hamartomas (ie, neurofollicular hamartoma, folliculosebaceous cystic hamartoma) is not yet apparent, although it is probably a unique entity.

Cystic lymphangiomatous hamartoma masquerading as massive ascites

We report a 4-year-old boy presenting with a tense massive ascites and large hydrocele. History and physical examination were unremarkable. Routine laboratory studies were normal. Abdominal ultrasonography revealed massive ascites. Contrast CT was suggestive of a large cyst covering the entire peritoneal cavity. At laparotomy, a large cystic tumor was found extending into the scrotum through the left inguinal ring. Histopathologic examination diagnosed the tumor as a cystic lymphangiomatous hemartoma. Although abdominal lymphangiomas are seen in children, but presenting as massive ascites with hydrocele is very rare.

Folliculosebaceous cystic hamartoma of the nipple: a case report

Folliculosebaceous cystic hamartoma (FCH) is a relatively rare and recently described lesion of the skin. Mostly, it involves the skin of the head and neck area. It is considered by most authors as a form of non-neoplastic cutaneous hamartoma comprising follicular, sebaceous and stromal elements. However, few regard it as a sebaceous trichofolliculoma, i.e. a variant of trichofolliculoma. FCH of the nipple of female breast is a very rare lesion with only one previous case reported so far in the literature. We report a similar case with a brief review of the literature.

Long-term follow-up of a multifocal hepatic mesenchymal hamartoma producing a-fetoprotein

We here present a 6-month-old girl with cystic hepatic mesenchymal hamartoma and elevated a-fetoprotein (aFP). Following hepatectomy of the left lobe and partial right lobectomy, decline of the serum aFP was observed. The child has been well for 20 years and it is one among a few cases with such a long observational period.

Mesenchymal cystic hamartoma of the lung: a rare cause of pneumothorax

A 14-year-old girl had a left spontaneous pneumothorax. Because closed chest tube drainage failed to obtain expansion of the lung, thoracoscopic bullectomy was performed. Pathological examination of the bulla resulted in the diagnosis of mesenchymal cystic hamartoma, which is a rare cause of pneumothorax.

Mesenchymal Cystic Hamartoma of the Lung

We report the magnetic resonance imaging (MRI) and positron emission tomography/computed tomography (PET/CT) findings of a patient who presented with lower thoracic pain, nausea, and vomiting and had a CT scan of the chest in which a well-defined homogeneous mass was identified. Further evaluation with MRI and PET/CT showed a nonenhancing homogeneous paraspinal mass in the left lung base involving the left hemidiaphragm. The mass showed lack of enhancement on MRI and was photopenic on PET/CT. Video-assisted thoracoscopic surgery and resection of the mass was performed and showed a mesenchymal cystic hamartoma invading the left hemidiaphragm. Such a growing hamartoma with pleural and diaphragmatic invasion is very atypical and to our knowledge, has not been previously reported.

Clinicopathological and immnuohistochemical findings in a series of folliculosebaceous cystic hamartoma

Folliculo-sebaceous cystic hamartoma (FSCH) is an uncommon skin condition presenting as a slow-growing papulo-nodular lesion, in or around the nose. Most cases are not clinically suspected and only histopathological examination allows the diagnosis. Pathological features include a dermal-located infundibulo-cystic structure with sebaceous glands radiating around, a stromal component encircling the epithelial structures, with clefts between the lesional epithelial and stromal parts, as well as between this and the adjacent dermis. We report eight patients with the diagnosis of FSCH (5 females and 3 males), with ages ranging from 35 to 77 years. Most cases (5 out of 8) were located in or around the nose and sizes were comprised between 0.6 and 1.2 cm. Lesions had grown for long periods of time, up to ten years in one case. Immunohistochemistry showed staining for p63 in the epithelial component of all lesions, while CD10 was only present in some sebocytes. CD34 and Factor XIIIa positive cells were present in the lesional stroma. Staining for androgen and alpha-estrogen receptors was also usually noticed. FCSH is a hamartomatous skin lesion, clinically indistinct but with well-defined histopathological features. Immunohistochemistry shows a profile very close to normal sebaceous glands.

Cystic Brunner’s gland hamartoma in the duodenum: A case report

Cystic Brunner's gland hamartoma in the duodenum is exceedingly rare, although microscopic examination may sometimes reveal a Brunner's gland hamartoma containing dilated ducts in the duodenum. We present a case of large cystic Brunner's gland hamartoma in the duodenum with a long stalk, which is described in light of multidetector-row computed tomography, magnetic resonance imaging, and a modified small bowel series, together with pathologic correlation and differential diagnosis.

A Case of Giant Folliculosebaceous Cystic Hamartoma

Clinically, folliculosebaceous cystic hamartoma (FSCH) lacks distinct features, but it has been reported as an asymptomatic, 1- to 3-cm, dome-shaped nodule on the face. Histopathologically, FSCH is characterized by adnexal and folliculosebaceous cystic proliferation with various mesenchymal changes. This case presented an unusually large, small-fist-sized mass in the right mandibular area that was accompanied by intermittent itching. Histopathologic findings demonstrated appropriate features of FSCH. We present an interesting case of giant FSCH in a 48-year-old female.

Folliculosebaceous cystic hamartoma differentiates toward the infundibulum, sebaceous duct and sebaceous cells: immunohistochemical study of keratins and filaggrin

Folliculosebaceous cystic hamartoma differentiates toward the infundibulum, sebaceous duct and sebaceous cells: immunohistochemical study of keratins and filaggrin

Hamartoma quístico retrorrectal: hallazgos radiopatológicos

Cystic hamartoma is a rare congenital lesion that presents as a presacral mass. It arises from remnants of the embryonic postanal gut. It is more common in women and usually presents in middle age. It is usually asymptomatic. It is difficult to distinguish the imaging appearance of cystic hamartoma from that of many other presacral cysts; therefore, histologic analysis is essential for the definitive diagnosis. Complete surgical excision is indicated to establish the diagnosis and avoid complications (infection and malignant transformation).