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Meningeal hamartoma of the scalp. A variant of primary cutaneous meningioma.

A case of meningeal hamartoma of the scalp is reported. A 15-year-old girl was admitted complaining of scalp nodules in the midline occipital region. A midline skull defect was found under the nodular lesions. Histologically, the mass had a fibrocollagenous tract extending to the dura and showed an admixture of mature adipose tissue, small vessels, strands of fibrocollagenous tissue, and scattered foci of meningocytes. Immunohistochemically, the meningocytes desmosomes, interdigitating processes, and intermediate filaments. The patient's brother also had the meningeal hamartoma of the scalp. Meningeal hamartoma as a variant of primary cutaneous meningioma is extremely rare, and this is the first report of such a case in Japan.

Adolescent↗

Multifocal mesenchymal hamartoma of the chest wall.

Chest wall hamartomas are extremely rare. Frequently mesenchymal hamartomas are presented as a single mass and contain some primitive mesenchymal elements such as chondroid and trabecular bone structures. A 60-year-old man presented to hospital with chest pain. Thirteen years earlier, his CXR and thoracic CT showed three masses on the right and two masses on the left, but he had not received any treatment thereafter. His CT showed the same masses present 13 years earlier, but they were bigger and right thoracotomy was undertaken. At thoracotomy, two sections of the mass in the right posterior mediastinum and one section of the mass in the right apex were excised. They had an occasional bloody appearance and contained small cystic areas, and some areas were extremely hard. Microscopic examination showed that the lesions consisted of mature adipose tissue, a large number of veins of different diameters and collagen tissue. Besides, primitive mesenchymal elements, lymphoid cell accumulations and trabecular bone structures were seen focally. Bilateral chest wall hamartomas are extremely rare and may be confused with malignancy.

Diagnosis, Differential↗

Photodynamic therapy with Verteporfin for vascular leakage from a combined hamartoma of the retina and retinal pigment epithelium.

This interventional case report describes a patient with a combined hamartoma of the retina and retinal pigment epithelium (RPE), which was treated with photodynamic therapy (PDT) with Verteporfin. A 17-year-old girl presented with a combined hamartoma of the retina and RPE. Progressive decrease in vision due to vascular leakage and macular involvement led to the decision to treat this lesion with PDT. Rapid vascular closure occurred after PDT as confirmed by fundus fluorescein angiography and the clinical appearance gradually improved. However, visual acuity did not improve substantially. PDT with Verteporfin could be considered as a treatment modality for combined hamartomas of the retina and RPE, which demonstrate progressive vascular leakage.

Adolescent↗

Congenital smooth muscle hamartoma masquerading as congenital pigmented nevus.

Smooth muscle hamartomas are rare benign tumors of the skin, characterized by proliferation of large interlacing bundles of nonstriated muscle within the reticular dermis. The lesions may masquerade as one of several clinical entities. In this report, we describe two patients with congenital smooth muscle hamartomas masquerading as congenital pigmented nevi. Review of the literature indicates that these cases represent the ninth and tenth reported cases of congenital smooth muscle hamartoma. Our second case represents the largest lesion reported to date.

Biopsy↗

Myoid hamartoma of the breast: a case report and review of the literature.

Myoid hamartomas of the breast are extremely rare breast lesions, with a poorly understood pathogenesis. A 60-year-old woman presented with a palpable mass in the right breast. Breast ultrasonography and mammography showed the presence of a breast lesion with benign characters, but were not diagnostic. A local excision of the mass was performed; histology revealed that the tumor was composed of epithelial and stromal cells. Histological and immunohistochemical findings established the diagnosis of myoid hamartoma. The patient is well 4 years later without tumor recurrence. Breast myoid hamartomas are exceptionally rare benign lesions; complete surgical excision achieves cure.

Breast Neoplasms↗

Congenital apocrine hamartoma: an unusual clinical variant of organoid nevus with apocrine differentiation.

Congenital apocrine hamartomas are rare tumors of the skin composed of mature apocrine glands in the papillary and reticular dermis. Several cases have been reported in the literature but few were of uniform clinical appearance. The term apocrine nevus has been used interchangeably with apocrine hamartoma in the literature, however, based on their distinctive morphologies we believe they are different entities. We describe a 7-year-old girl with a congenital apocrine hamartoma of the left cheek. A stained biopsy specimen from the lesion revealed large mature apocrine glands with decapitation secretion in the dermis. The presence of periodic acid-Schiff-positive, diastase-resistant granular material in the apical cytoplasm of some secretory cells helped differentiate these as apocrine glands. We think this lesion may represent a form of organoid nevus with pure apocrine differentiation.

Child↗

Incidence of hepatic hamartomas in tuberous sclerosis.

Hepatic hamartomas were thought to be a rare finding in patients with tuberous sclerosis. The purpose of this study was to assess their incidence in children with tuberous sclerosis and to review the literature. During 1984-90 we examined 51 children by ultrasonography; there were 25 boys and 26 girls. Their age ranged from 3 months to 18 years. Liver hamartomas were seen in 12 (23.5%) of the children, more often in girls than boys (5:1). Their incidence increased with age reaching 45% in children over the age of 10. They did not produce any symptoms of hepatic dysfunction. Our study and review of reported cases prove that hepatic hamartomas are a common finding in patients with tuberous sclerosis and may be very helpful in providing a more accurate diagnosis and consequently help in genetic counselling.

Adolescent↗

Neuromuscular and vascular hamartoma of the small intestine: is it Crohn's disease?

Neuromuscular and vascular hamartoma has been described as a specific, if rare, stricturing condition of the small intestine. In this paper four cases with very similar macroscopic and histological features to those described as 'neuromuscular and vascular hamartoma' are presented. In three of the patients there was an earlier histologically proven diagnosis of Crohn's disease of the small intestine. We believe that 'neuromuscular and vascular hamartoma' is not a hamartomatous condition but may be seen as part of the histological spectrum of Crohn's disease, possibly in a chronic and 'burnt out' phase. Indeed the presence of these changes may provide additional evidence for the diagnosis of Crohn's disease.

Adult↗

Mesenchymal hamartoma of liver in a man: comparison with cases in infants.

A 53 year old man with a large mesenchymal hamartoma is reported. Only a few bile ducts could be found in the periphery of the lesion and no hepatocytes were identified within the lesion. As far as is known, this is the only adult male patient reported to date. On the basis of the reported findings of mesenchymal hamartoma in other adults, it is suggested that there could be changes in the morphology of this lesion with age: progressive loss of hepatocytes; degeneration of bile duct epithelium; and cystic change of the mesenchymal component. The haematopoietic element is considered to be part of the fetal hepatic haematopoiesis that occurs in the hamartoma.

Hamartoma↗

Malignant potential in a Brunner's gland hamartoma.

Brunner's gland hamartomas are rare tumours of the duodenum. These lesions have previously been described as being benign, with no malignant potential. A case report is presented of a Brunner's gland hamartoma, whose histology revealed a focus of well marked epithelial dysplasia. This case suggests a dysplastic stage in the natural history of Brunner's gland hamartoma, and questions the malignant potential of these lesions.

Aged↗

Uncommon pulmonary hamartomas.

Three cases are reported--one endobronchial hamartoma, one endobronchial hamartoma accompanied by a similar intrapulmonary lesion, and one multiple hamartoma. These cases typify the clinical presentation and illustrate some of the difficulties in diagnosis and management. The published cases are reviewed.

Adult↗

Mesenchymal hamartoma of the chest wall: radiologic manifestations with emphasis on cross-sectional imaging and histopathologic comparison.

PURPOSE: To describe the imaging features of chest wall mesenchymal hamartoma with emphasis on cross-sectional imaging and comparison with histopathologic results. MATERIALS AND METHODS: For 14 mesenchymal hamartomas of the chest wall in 12 children, radiologic studies (computed tomographic [CT] scans [n = 14], radiographs [n = 11], magnetic resonance [MR] images [n = 9], and bone scintigraphic images [n = 1]) were reviewed by four radiologists with consensus agreement. Clinical history was reviewed for patient demographics and symptoms at presentation. Radiologic studies were evaluated for lesion location, size, number of affected ribs, cortical irregularity or erosion, presence and type of matrix mineralization, lung hyperaeration adjacent to the lesion, degree and homogeneity of radionuclide uptake, and intrinsic characteristics on CT and MR images. RESULTS: Patients included seven male and five female children. Nine patients (75%) were younger than 1 year. Five patients had a chest wall mass; in the remaining seven, the lesion was discovered incidentally. All 14 lesions arose from ribs, 11 were located posteriorly, and 11 affected multiple contiguous ribs. Two patients had multifocal disease, each with two discrete lesions. Radiography in all cases revealed a large expansile rib lesion and an associated extrapleural soft-tissue mass, suggesting an aggressive process. Mineralization was seen in seven (64%) lesions at radiography and in 14 (100%) lesions at CT. Hemorrhagic cavities (secondary aneurysmal bone cyst [ABC] regions) were common, seen in nine (64%) lesions at CT and in four (80%) of five lesions imaged with T2-weighted MR imaging. CONCLUSION: Mesenchymal hamartoma of the chest wall may be recognized by its characteristic occurrence in infancy and cross-sectional imaging features of mineralization and hemorrhagic cystic (secondary ABC) components.

Adolescent↗

Pulmonary hamartoma: diagnosis by transthoracic needle-aspiration biopsy.

Hamartomas of the lung often present as asymptomatic, noncharacteristic masses that can seldom be differentiated from other lung masses such as primary cancer or metastases by conventional radiography. Transthoracic needle-aspiration biopsy (TNAB) has become a popular and reliable method for the diagnosis of a lung lesion, and it offers a valuable alternative to diagnostic thoracotomy. In our study, TNAB established the diagnosis of pulmonary hamartoma in 12 of 14 (86%) patients. In eight patients, one procedure (using one to three punctures) was sufficient to establish the diagnosis, and, in four patients, two procedures (using one to two punctures) were necessary. In two patients, the lesion was missed on second and/or third biopsy procedures, and the correct diagnosis was obtained at surgery. Cytologic examination of the material was diagnostic in five of the 14 patients. Tissue specimens were sent in 13/14 patients, and findings of histologic examination established the correct diagnosis in 11 of these patients. One of the 12 patients in whom hamartoma was correctly diagnosed by TNAB underwent resection of his lesion, and histologic examination confirmed the diagnosis. In the remaining 11 patients, the lesions have been stable on follow-up chest examinations.

Adult↗

Acute pancreatitis and upper gastrointestinal bleeding as presenting symptoms of duodenal Brunner's gland hamartoma.

Brunner's gland hamartomas are rare, benign small bowel tumours. There were fewer than 150 cases reported in the English literature until the end of the last century. These hamartomas may be discovered incidentally during an upper gastrointestinal tract endoscopy. Otherwise, they may be diagnosed in patients presenting with acute upper gastrointestinal bleeding, anemia or symptoms of intestinal obstruction. The case of a young woman admitted for acute upper gastrointestinal bleeding along with acute pancreatitis is presented. The investigation revealed a giant Brunner's gland hamartoma in the second part of the duodenum. After total endoscopic resection of the tumour, the patient has remained completely asymptomatic for a follow-up period of seven months.

Acute Disease↗

Surgical treatment of hypothalamic hamartoma and refractory seizures: a case report and review of the literature.

Refractory gelastic seizures are often associated with hypothalamic hamartoma (HH). Presurgical evaluation in such children often points to a distinct cortical region as the source of the seizures. A case of a child with HH and refractory seizures is presented. Video-EEG monitoring revealed a well-defined epileptic focus in the left frontal region. In accordance with the current understanding of the nature of hamartoma-related seizures, the hamartoma was resected. Follow-up evaluations revealed a marked improvement in seizure frequency and global functioning.

Child, Preschool↗

Cloning and characterization of the breakpoint regions of a chromosome 11;18 translocation in a patient with hamartoma of the retinal pigment epithelium.

Mutations of various tumor suppressor genes, e.g., PTEN, TSC1, and TSC2, are known to be responsible for different inherited diseases presenting with multiple hamartomas, a benign tumor resembling neoplasia that results from faulty organ development. Combined hamartoma of the retinal pigment epithelium (RPE) and retina is a rare, congenital, focal malformation of the fundus. So far, no disease gene has been associated with this disorder. By molecular analysis of an apparently balanced and reciprocal translocation between the short arms of chromosomes 11 and 18, t(11;18)(p13;p11.31), in a patient with hamartoma of the RPE and retina, we selected PAC clones crossing the breakpoints on both derivative chromosomes 11 and 18. For the overlapping chromosome 11 clone, two EST clusters were identified, suggesting the existence of at least two genes in the breakpoint region. We constructed a PAC contig and showed that at least three exons of a novel gene map to the breakpoint region on chromosome 18. Based on the results of FISH analysis with the PAC clones of this contig, we suggest the occurrence of a complex rearrangement.

Adult↗

Pancreatic hamartoma.

Pancreatic hamartoma is a rare benign lesion and may be mistaken for a malignancy, as demonstrated by two cases. The first case was a 29-year-old man who presented with a 7-month history of intermittent upper abdominal pain, nausea and vomiting and a 15-kg weight loss. CT and MRI revealed a mass in the head of the pancreas. The second case was a 62-year-old man who presented with a 2-year history of intermittent abdominal pain, vomiting and a 25-kg weight loss. Although positron emission tomography was normal, CT revealed thickening of the duodenal wall and endoluminal ultrasonography revealed a tumour in the head of the pancreas. Both patients recovered from uneventful Kausch-Whipple pancreatoduodenectomy (in the first patient, it was pylorus-preserving), and in each case the histological diagnosis was hamartoma. Pancreatic hamartoma can present with vague, non-specific symptoms which, despite modern diagnostic tools, can be difficult to diagnose. Surgical resection with histopathological examination is required to confirm the diagnosis.

Adult↗

Hypothalamic hamartoma with precocious puberty.

Hypothalamic hamartoma is a rare congenital nonneoplastic heterotopia consisting of neurons, glial cells and fiber bundles. Clinically, most patients with hypothalamic hamartomas present with precocious puberty and/or gelastic epilepsy. We report an interesting case of hypothalamic hamartoma causing precocious puberty in a young male. The lesion was excised totally through frontotemporal craniotomy and transSylvian approach without any added morbidity.

Child↗