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PubMedDate not supplied

Respiratory epithelial adenomatoid hamartoma associated with nasal polyposis.

Hamartoma is a rare, non-neoplastic tumor characterized by an abnormal mixture of tissues, which are indigenous to the region. They are rare in the nasal cavity. We report a 79-year-old woman with an adenomatoid hamartoma in the left nasal cavity associated with nasal polyposis. This association supports the hypothesis that inflammation is one of the factors that induce the development of a hamartoma. Functional endoscopic sinus surgery was performed to completely remove it, and this lesion was found to have arisen from the lateral nasal wall. It is an unusual localization because the most common site in the nasal cavity is the nasal septum, particularly the posterior aspect. Limited but complete surgical resection is the treatment of choice. Although adenomatoid hamartoma arising from the sinonasal tract is very rare, head and neck surgeons should be aware of this pathological entity as a differential diagnosis for inverted papilloma and adenocarcinoma. Misinterpretation of these lesions as a true neoplasm may result in unnecessarily aggressive surgery for this benign lesion.

Aged↗
PubMedDate not supplied

Frontal sinus hamartomas.

OBJECTIVE: To review the entity of respiratory epithelial adenomatoid hamartoma of the paranasal sinuses using an illustrative case example of frontal sinus hamartoma. METHODS: Case report with review of the literature. RESULTS: Respiratory epithelial adenomatoid hamartoma represents a benign process that is generally cured with conservative surgical resection of the involved area. Nevertheless, as shown in our case example, this can be a locally aggressive process that can lead to significant morbidity if left untreated. CONCLUSION: Hamartomas of the paranasal sinuses represent a rare entity, which should be considered in the differential diagnosis of expansile sinonasal lesions. Treatment of choice is surgical resection. Frontal sinus involvement may extend into the surrounding orbit and intracranial cavities, which may need to be addressed with standard skull base surgery techniques.

Aged↗
PubMed2005

Diffuse pulmonary hamartoma: a case report.

Pulmonary hamartoma usually occurs as a benign, well-circumscribed single nodule in the lung parenchyma. We report on a unique case of hamartoma that extended along the bronchial tree, formed endobronchial polypoid lesions, and expanded into the lung parenchyma. The patient, a 48-year-old man, was admitted with dyspnea and chest pain. A transbronchial biopsy was performed on a tumorous lesion that was diagnosed histologically as a hamartoma. As this lesion was found to be growing diffusely along the bronchial tree, a left pneumonectomy was performed. Gross examination showed that yellowish soft tissue had surrounded the bronchial tree and extended into the lung parenchyma. Histologically, the lesion contained mainly mature adipose tissue, cartilage, and muscle tissue with a minor component of short spindle cells in a myxomatous matrix. The patient was diagnosed as having diffuse pulmonary hamartoma.

Cell Nucleus↗
PubMed2001

Combined hamartoma of the retina and retinal pigment epithelium associated with juvenile nasopharyngeal angiofibroma.

PURPOSE: To report a patient who had concomitant combined hamartoma of the retinal pigment epithelium and retina and juvenile nasopharyngeal angiofibroma. METHOD: Case report. RESULTS: An 18-year-old man presented with a juvenile nasopharyngeal angiofibroma and a combined hamartoma of the retina and retinal pigment epithelium in the ipsilateral eye. The diagnosis of juvenile nasopharyngeal angiofibroma was confirmed by histopathology, and the diagnosis of combined hamartoma was established by typical ophthalmoscopic and fluorescein angiographic findings. CONCLUSION: Juvenile nasopharyngeal angiofibroma may be associated with combined hamartoma of the retina and retinal pigment epithelium.

Adolescent↗
PubMed2006

[Mammary hamartoma].

For many years, mammary hamartoma was considered to be an under-diagnosed disease. However, with the increasing use of diagnostic procedures in breast tumors (mammography, ultrasound, fine needle aspiration cytology and core needle biopsy), diagnosis of this entity has increased. Mammary hamartomas normally manifest as painless, mobile, palpable lumps without adherence to skin or muscle. Mammography shows well-circumscribed tumors, separated from adjacent normal breast tissue. Macroscopically they are well-defined tumors, consisting of benign mammary glandular tissue, fibrous stroma and fat in variable proportions, sometimes with a pseudoencapulation. Because of the lack of cytological and architectural specificity of hamartomas, correlation between clinical manifestations, imaging techniques and histology is essential. This report describes a case of an 11-cm mammary hamartoma in a 46-year-old woman.

Breast Diseases↗
PubMed1992

Case report: unusual presentation of splenic hamartoma; computed tomography and ultrasonic findings.

Hamartomas of the spleen are rare benign tumours, which are usually asymptomatic, incidental findings at laparotomy or autopsy (Komakl and Gombas, 1976; Brinkley and Lee, 1981; Norowitz and Morehouse, 1989). There are a few well documented reports of symptomatic splenic hamartoma associated with haematological disturbances, marked splenomegaly or even spontaneous rupture that required an emergency operation (Iozzo et al., 1980; Morgenstern et al., 1984). We report a patient with splenic hamartoma who presented with splenomegaly and iron deficiency anaemia. Computed tomographic (CT) and ultrasound (US) evaluation demonstrated an inhomogeneous mass within the enlarged spleen. Malignant melanoma was mistakenly diagnosed by US-guided fine needle aspiration of the mass, and necessitated splenectomy. The final diagnosis was hamartoma of the spleen.

Diagnosis, Differential↗
PubMed1975

The pre-operative diagnosis of renal hamartoma.

The characteristic angiographic findings in renal hamartoma consist of: a large dilated feeding vessel passing through the mass, multiple multisacculated aneurvsmal dilatations (bunch of grapes), a delicate discrete discrete neovascularity without A-V shunting, and 'onion peeling' on the venous phase. In addition radiolucent areas within the renal mass indicate a high fat content. When these findings are present renal hamartoma can be diagnosed confidently. Racial nephrectomy and needless sacrifice of a whole kidney for a benign lesion can be avoided. Heminephrectomy may be sufficient, thus saving the patient valuable renal tissue. Four cases of renal hamartoma are presented. Plain film and angiographic studies are shown. All four showed the characteristic angiographic findings of renal hamartoma and were diagnosed pre-operatively.

Adult↗
PubMed1997

Conservative management of mesenchymal hamartoma of the liver.

The natural history of mesenchymal hamartoma of the liver is poorly understood. This case demonstrates the course of a biopsy-proven mesenchymal hamartoma using sequential computed tomography (CT) examinations. These CT scans show initial expansion of the lesion with subsequent involution. The spontaneous resolution in this patient suggests the possibility of conservative management of asymptomatic mesenchymal hamartomas. The case is presented, and the literature on mesenchymal hamartoma is reviewed.

Hamartoma↗
PubMed1999

Spontaneous rupture of splenic hamartoma: a case report.

Splenic hamartomas are rare. The authors report a case of spontaneously ruptured splenic hamartoma in a 5-month-old boy. This rupture led to the death of the child. If abdominal pain is present and a mass is palpated, the splenic hamartoma should be managed surgically in an expeditious manner. There have been only two known previous reports of spontaneous rupture of splenic hamartoma in adults, but none in children.

Hamartoma↗
PubMed1978

A mixed hamartoma of the liver: light and electron microscopy.

The gross, microscopic, and ultrastructural features of a mixed liver hamartoma occurring in a three month old infant are reported. The differentiation from two solid liver masses, focal nodular hyperplasia and liver cell adenoma is emphasized. Mesenchymal hamartomas, though usually cystic rather than solid masses, share the histologic feature of fibroductular tissue with mixed liver hamartomas and focal nodular hyperplasia. Only the mixed liver hamartoma has extremely broad fields of ductules and an embryonic type of hepatocyte at the ultrastructural level. These and other hepatic lesions show morphologic evidence of transformation of liver cells into biliary epithelial cells in association with vascular connective tissue.

Hamartoma↗
PubMed2003

Congenital simple hamartoma of the retinal pigment epithelium: a study of five cases.

PURPOSE: To report 5 patients with presumed congenital, simple hamartoma of the retinal pigment epithelium (RPE). DESIGN: Retrospective, observational small case series. PARTICIPANTS: Five patients with a black macular tumor of the RPE. MAIN OUTCOME MEASURES: Initial tumor features, initial associated fundus features, tumor course on follow-up, and visual acuity outcome. RESULTS: In all 5 cases, the tumor involved the macula and the mean distance to the foveola was 0.4 mm (median, 0.2 mm; range, 0.2-1.2 mm). In all cases, the tumor was darkly pigmented, with full-thickness retinal and RPE involvement and minimal protrusion into the vitreous cavity. The mean ultrasonographic tumor thickness was 1.6 mm (median, 1.4 mm; range, 1.1-2.5 mm). Associated features included minimally dilated retinal feeding artery and draining vein (100%), surrounding mild retinal traction (80%), retinal exudation (20%), and vitreous pigmented cells (20%). None of the lesions had associated subretinal fluid, macular edema, or macular hole. Visual acuity was 20/20 in 3 cases and slightly decreased in the other 2 cases because of foveal traction. The findings remained stable in 3 patients who had adequate follow-up. We chose to classify this lesion as congenital simple hamartoma of the RPE to differentiate it from combined hamartoma of the retina and RPE, congenital hypertrophy of the RPE, adenoma or adenocarcinoma of the RPE, and acquired hyperplasia of the RPE, which are different clinical entities. CONCLUSIONS: Congenital hamartoma of the RPE is typically a black, full-thickness retinal mass, often adjacent to the foveola. Despite such location, the visual acuity was affected minimally.

Aged↗
PubMed1996

Atypical retinal astrocytic hamartoma diagnosed by fine-needle biopsy.

BACKGROUND: Retinal astrocytic hamartoma and retinoblastoma may be very similar clinically, and their differentiation in atypical cases can be difficult, even with the use of ancillary methods such as fluorescein angiography, ultrasonography, and computed tomography. To the authors knowledge, fine-needle aspiration biopsy has not been used to diagnose astrocytic hamartoma in such cases. PATIENTS AND METHODS: A 7-week-old boy had a minimally calcified retinal mass in the macular area of the left eye associated with an extensive secondary retinal detachment. The differential diagnosis included retinal astrocytic hamartoma and retinoblastoma. A transvitreal fine-needle aspiration biopsy was performed. RESULTS: The cytology of the needle biopsy showed benign spindle and stellate cells, which were compatible with glial cells. The lesion had immunoreactivity for glial fibrillary acidic protein, further supporting the diagnosis of astrocytic tumor. CONCLUSION: Fine-needle aspiration biopsy is diagnostically useful in unusual cases where the differential diagnosis between retinoblastoma and astrocytic hamartoma is difficult.

Astrocytes↗
PubMed1987

Multiple hamartoma syndrome.

Multiple hamartoma syndrome, also known as Cowden's disease, is a rare genodermatosis with multiple organ system involvement affecting tissues derived from ectodermal, endodermal, and mesodermal tissue layers. We describe two previously unreported cases of multiple hamartoma syndrome in a father and daughter. Both show classic features of multiple hamartoma syndrome, as well as other mucocutaneous findings. The father has been shown to have substantial cutaneous deposits of amyloid in the absence of underlying plasma cell dyscrasia or malignancy. Both individuals have undergone excision of a unique fibroma that has features that have been reported only in multiple hamartoma syndrome and should be added to the criteria used to define the entity.

Adolescent↗
PubMed1997

Cutaneous vascular anomalies. Part I. Hamartomas, malformations, and dilation of preexisting vessels.

Classification of cutaneous vascular anomalies is difficult because conceptual confusion persists between vascular neoplasms and malformations. However, hemangiomas of the infancy fulfill criteria both for hyperplasia and neoplasm because they result from proliferation of endothelial cells, but often undergo complete regression. Despite these pitfalls we have classified cutaneous vascular anomalies into the following categories: hamartomas, malformations, dilatations of preexisting vessels, hyperplasias, benign neoplasms, and malignant neoplasms. In this first part of our clinicopathologic review of vascular anomalies, hamartomas, malformations, and dilatation of preexisting vessels are covered. Hamartomas include several combined vascular and melanocytic proliferations grouped as phakomatosis pigmentovascularis and the so-called eccrine angiomatous hamartoma that consists of proliferations of both eccrine glands and blood vessels. Vascular malformations result from anomalies of embryologic development, and in some of them the abnormalities of the involved vessels are more functional than anatomic, as is the case of nevus anemicus. In contrast, other cutaneous vascular malformations show striking morphologic abnormalities of the vascular structures. These anatomic vascular malformations are subdivided into the following groups: capillary, venous, arterial, lymphatic, and combined anomalies. Spider angioma, capillary aneurysm-venous lake, and telangiectases are not vascular proliferations at all, but dilations of preexisting vessels. In our opinion, most of the lesions described with the generic term of "angiokeratoma" are not authentic vascular neoplasms, but hyperkeratotic malformations of capillaries and venules or acquired telangiectases of preexisting blood vessels of the papillary dermis. Therefore the first group of these "angiokeratomas" are included in the vascular malformations section, and the second group are covered in the section of dilation of preexisting vessels. Lymphangiectases are considered the lymphatic counterpart of angiokeratomas because they result from ectasia of preexisting lymphatic vessels of the papillary dermis.

Aneurysm↗
PubMed1986

High incidence of fundus hamartomas and clinical significance of a fundus score in tuberous sclerosis.

A detailed ophthalmological study was performed on a consecutive series of 100 cases with tuberous sclerosis (TS). A fundus score was given to each patient according to the size and number of fundus hamartomas to correlate them with other clinical symptoms. TS-Specific fundus hamartomas were detected in 87% of the subjects. There were no significant differences in the distribution of the scores with age, and considerably high scores were given even for younger infants and children. The fundus scores were higher in sporadic cases or the complete type than in heredofamilial cases or the incomplete type. On fluorescein fundus angiography in 25 patients with 72 hamartomas, various degrees of hyperfluorescence were found in 87% of the lesions, while no leakage was found in the rest. Other ocular findings included depigmented iris sectors in 12 cases, punched-out chorioretinal defects in 9, and unilateral visual impairment due to either primary or secondary effects of the hamartomas in 3.

Adolescent↗
PubMed2003

[Cardiac hamartomas in Bourneville's tuberous sclerosis. Perinatal echographic diagnosis and spontaneous evolution].

UNLABELLED: Cardiac hamartomas are frequently the earliest revelation of Bourneville's tuberous sclerosis. They sometimes allow to consider the diagnosis during the antenatal period, and to plan therefore genetic and CNS investigations. After the neonatal period, the evolution of hamartomas is frequently favourable, characterised with at least partial involution. OBSERVATION: Antenatal equivocal cardiac echographic images did not allow the diagnosis in a fetus whose father had Bourneville's disease. Other antenatal investigations (genetics, central nervous system MRI) were not helpful. The diagnosis was carried out at birth as cardiac ultrasound reliably showed two cardiac hamartomas. CONCLUSION: Even when suspected, the antenatal diagnosis of Bourneville's disease is difficult. The presence of cardiac hamartomas at birth is a reliable mean to make the diagnosis.

Diagnosis, Differential↗
PubMed1996

Multiple hamartoma syndrome presenting with oral lesions.

Multiple hamartoma syndrome (Cowden's syndrome), a rare genodermatosis with predominant mucocutaneous features, particularly hamartomas, and Cowden/Lhermitte-Duclos disease, the combination of multiple hamartomas with cerebellar hypertrophy, typically present with cutaneous and oral papillomatosis as major features of both uncommon disorders. This article details the clinical features of three patients with multiple hamartoma syndrome and one with both disorders.

Adult↗
PubMed2004

Rare tracheal chondroid hamartoma masquerading as asthma in a 14-year-old girl.

BACKGROUND: Tracheal hamartomas are rare in all age groups and have not been previously described in adolescence. OBJECTIVE: To report the first case of a tracheal chondroid hamartoma presenting as exercise intolerance and wheezing and previously misdiagnosed and treated as asthma. METHODS: Symptoms, pulmonary function tests, chest x-ray examination, chest computed tomography, and histologic examination of the specimen were performed. RESULTS: The pulmonary function tests obtained throughout several years revealed progressive decreases (approximately 30% of predicted) in peak expiratory flow and forced expiratory volume in 1 second (approximately 50% of predicted). The inspiratory and expiratory flow-volume curve suggested a fixed central airway obstruction. Both the chest x-ray examination and computed tomography revealed an intraluminal tracheal tumor that was surgically excised. Histologic examination revealed a chondroid hamartoma. CONCLUSIONS: Rare benign primary tracheal tumors, including chondroid hamartoma, can present in adolescence with asthma-like symptoms for years and should be considered in the differential diagnosis, especially in the setting of appropriately abnormal spirometry or when asthma is very difficult to control.

Adolescent↗