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PubMed1990

Combined hamartomas of the retinal pigment epithelium and retina.

Combined hamartomas of the retinal pigment epithelium (RPE) and retina are rare, benign lesions usually occurring in individuals with no underlying systemic abnormalities. The authors report two cases of combined hamartomas of the RPE and retina. In one case, combined macular hamartomas of the RPE and retina were present in a 5-month-old infant. This is the earliest reported case of bilateral macular involvement. In both patients, multiple cafe-au-lait spots were present, and the diagnosis of neurofibromatosis was considered. The authors suggest that combined hamartomas of the RPE and retina are congenital lesions and may be one of the ophthalmic manifestations of the phakomatoses.

Child↗
PubMed1989

Diagnosis of pulmonary hamartoma by bronchoscopic transbronchial biopsy.

Intraparenchymal pulmonary hamartomas are benign lesions that cannot reliably be distinguished from malignant solitary pulmonary nodules by routine chest x-ray or computerized tomography. Thoracotomy or transthoracic needle aspiration or biopsy is usually required to establish the histologic diagnosis of hamartoma. We report a patient in whom a solitary pulmonary nodule was diagnosed as a pulmonary hamartoma by bronchoscopic transbronchial biopsy, obviating the need for a more invasive procedure. Fiberoptic bronchoscopy with transbronchial biopsies should be considered initially in the evaluation of a solitary pulmonary nodule. Special stains for cartilage and fat may aid in the diagnosis of pulmonary hamartomas.

Aged↗
PubMed1986

[Ultrasonic aspects of combined hamartoma of the pigment epithelium and retina].

The combined hamartoma of the pigment epithelium and retina is a rare developmental tumor characterized by a plaque of thickened retinal pigment epithelium, gliotic and disorganized retina, tortuous retinal and disc vessels, preretinal fibrosis. The ophthalmoscopic and fluorescein angiographic features of the combined hamartoma of the pigment epithelium and retina are widely described in the literature, while the echographic findings are very rarely reported. In the case described here A-scan echography showed that, in the tumor area, the retinal peak was separated from the choroido-scleral peak by an acoustically silent space. B-scan echography revealed a thick and detached retina. The echographically silent subretinal space corresponds to a serous detachment of the macular retina. This lesion, infrequently reported in association with the combined hamartoma, probably depends on the exudation of the retinal vessels and the traction of the hamartoma on the macula. In addition, the echography allowed us to exclude an extension of the lesion to the choroid and the sclera. The electroretinogram and the electro-oculogram were normal as in such localized lesions of the fundus.

Adult↗
PubMed1988

Nodular renal blastema and metanephric hamartomas in children with urinary tract malformations: a morphologic spectrum of abnormal metanephric differentiation.

In a retrospective review, we identified a variety of abnormal immature and differentiated metanephric tissues including nodular renal blastema and metanephric hamartomas in 12 children with urinary tract malformations with or without renal dysplasia. Four infants also had trisomy. Nodular renal blastema was characterized by small subcapsular clusters of primitive metanephric cells, in some cases with evidence of tubular, papillary, or trabecular differentiation. Metanephric hamartomas included papillary adenomas and tubular hamartomas. Undifferentiated renal blastema was multifocal, but more differentiated blastema usually occurred as isolated nodules. When accompanied by renal dysplasia, blastema tended to show differentiation. One child had a spectrum of lesions with both blastema and more differentiated metanephric hamartomas.

Adolescent↗
PubMed1988

A clinical review of patients undergoing resection for pulmonary hamartoma.

Both the radiology and surgery literature mention "popcorn calcification" as a diagnostic aid in identifying pulmonary hamartomas. Nineteen patients underwent resection of pulmonary hamartomas at North Carolina Memorial Hospital between January 1969 and February 1983, representing 1.9 per cent of all thoracotomies performed for pulmonary disease. Of the 19 patients, there were 12 men (63%) and 7 women (37%), and most were asymptomatic. Chest x-ray demonstrated 12 right-sided and 7 left-sided lesions. All masses were located peripherally in the lung parenchyma and in no instance was calcification present. Fourteen wedge resections and 5 lobectomies were performed. Pathologic examination confirmed the absence of calcification; however, in two cases (11%) an associated malignancy was present. There were no operative deaths and only minor postoperative complications. All problems resolved without difficulty. These data show that pulmonary hamartomas are not commonly associated with calcification, and there may be an increased association with carcinoma of the lung. Excision can be performed with minimal morbidity and is necessary to distinguish hamartomas from malignant lesions.

Adult↗
PubMed1986

[Controlling precocious puberty--surgical excision of hypothalamic hamartoma causing precocious puberty].

Among the causes of precocious puberty, hypothalamic hamartoma comprises a small percentage. However, the frequency of precocious puberty in the presence of hypothalamic hamartoma is quite high. Recently, results of surgery in 14 cases of hypothalamic hamartoma were reported. Precocious puberty completely subsided in three cases and slight improvement was achieved in another three cases. We performed surgery in four patients with hypothalamic hamartomas, with the goal of decreasing the symptoms of precocious puberty. The patients were two females (aged 1 yr, 3 mo and 6 mo) and two males (aged 3 yr, 7 mo and 1 yr, 9 mo). The main symptoms were precocious puberty and mental retardation of varying degrees. The males had excessive growth of body and external genitalia, while the females had genital bleeding and premature breast development. In each case, computed tomographic scans disclosed a round, isodense mass in the interpeduncular cistern, attached to the base of the hypothalamus. Contrast enhancement was negative. Endocrinologically, in case 1, testosterone was 92.6 ng/ml, FSH was 16 mIU/ml, and LH was 2.2 mIU/ml. Although LH was within normal limits, it overresponded to LH-RH stimulation. In case 2, estrogen was 13.5 ng/day, LH was 5.2 mIU/ml, FSH was 5.3 mIU/ml, and LH showed an exaggerated response to LH-RH stimulation. In case 3, testosterone was 362 ng/ml, LH was 8.8 mIU/ml, FSH was 4.8 mIU/ml, and LH showed an abnormally high response to LH-RH stimulation. In case 4, LH was 18.4 mIU/ml, FSH was 12.0 mIU/ml, and both hormones were stimulated abnormally strongly by LH-RH.(ABSTRACT TRUNCATED AT 250 WORDS)

Child, Preschool↗
PubMed1985

Hamartomas of the head and neck. A report of 4 cases.

Hamartomas in the head and neck region are unusual, and few reports of such lesions are found in the literature. Four cases of hamartoma are described. Two were lymphoid hamartomas (1 occurred in the neck and 1 in the parotid gland), the third was a vascular hamartoma of the ethmoid, and the fourth was found in the neck and was composed of cartilage and fibrofatty tissue.

Adolescent↗
PubMed1981

Precocious puberty and hypothalamic hamartoma.

A 3-year-old boy with true precocious puberty and hamartoma of the hypothalamus is described. Preliminary diagnosis was established by the presence of unusually advanced puberty and skeletal age without other evidence of central nervous system dysfunction, elevated blood gonadotropin and testosterone concentrations, and positive computed tomography scans. Pneumoencephalography further delineated the tumor. Hypothalamic-pituitary-gonadal and adrenal functions were studied. Release of gonadotropins after the injection of synthetic luteinizing hormone-releasing hormone and the suppression of luteinizing hormone and of testosterone by oral fluoxymesterone were comparable to maximal responses of normal men. The diagnosis was confirmed by histologic and electron microscopic study of an excised portion of the tumor. Immunofluorescence studies indicated the presence of luteinizing hormone-releasing hormone in the hamartoma and radioimmunoassays detected thyroid-stimulating hormone-releasing hormone and somatostatin. The hamartoma resembles an autonomously functioning accessory hypothalamus. The ectopic neuroendocrine pathways, however, are responsive to hormonal stimulation and feedback. The clinical, endocrinologic, and pathologic features of published cases of precocious puberty and hypothalamic hamartoma are reviewed. Advanced or rapidly progressive true precocious puberty in the very young with elevated concentrations of blood gonadotropins and gonadal steroids and positive pneumoencephalography appear to be characteristic.

Child, Preschool↗
PubMed1980

Multiple hamartoma syndrome. A report of a new case with associated carcinoma of the uterine cervix and angioid streaks of the eyes.

Multiple hamartoma syndrome is a genodermatosis with autosomal-dominant inheritance. Characteristic findings include mucocutaneous verrucoid papules, "cobblestoning" of the tongue, and hamartomas of multiple organ systems. Also reported are frequent malignancies, especially of the breast. Herein we report a case of a 42-year-old black woman with typical findings of multiple hamartoma syndrome, including an occult malignancy of the uterine cervix, an as yet unreported site of carcinoma in this syndrome. Additionally, we detail a previously unreported finding of bilateral angioid streaks of the optic fundi. Photographs displaying many of the typical features of multiple hamartoma syndrome and associated histopathology are included, along with a brief review of the literature.

Adult↗
PubMed1995

[Recurrent multiple leiomyomatous hamartomas of the lung].

A 40 year old female was operated because of pulmonary leiomyomatous hamartoma. Despite repeated surgical resection therapy during the following years she developed recurrent multiple hamartoma. The indication for multiple surgery only included compression of central vessels or rapid growth of the hamartomas. The history of hysterectomy--as in our patient--is common for patients with multiple leiomyomatous pulmonary hamartoma. However, revision of the histological slides revealed no hint of uterine leiomyosarcoma. Therefore, a primary pulmonal (and recurrent) multiple hamartosis seems obvious.

Adult↗
PubMed1993

Spontaneous rupture of splenic hamartoma.

Hamartoma of the spleen is a rare benign tumor. Only one spontaneously ruptured splenic hamartoma has been reported that presented with an acute surgical abdomen. A second case of a ruptured hamartoma of the spleen is illustrated; however, this case is unique in that it presented as a nonsurgical abdomen. This case stresses the importance of serial physical examinations of the patient and appropriate diagnostic studies in correctly determining the diagnosis when preliminary findings are inconclusive. Surgeons should include splenic hamartomas in the differential diagnoses of splenic defects seen on radiologic studies or splenic masses palpated during abdominal exploration.

Female↗
PubMed1996

[Clinicopathological study of pulmonary hamartoma with special reference to 6 patients who also had another tumor].

We studied 22 patients in whom intrapulmonary hamartoma was diagnosed between 1975 and 1994. Twelve were men and 10 were women, and their ages ranged from 20 to 72 years (averaged: 52.5). The sizes of the hamartomas ranged from 5 mm to 3 cm. Five patients also had other types of cancer (ling 3, colon 1, thyroid 1) and one had a mediastinal tumor (1). In those 6 patients, the hamartomas had to be distinguished from intrapulmonary metastasis. In 2 of those 6, thoracoscopic surgery was useful for obtaining sufficient materials for diagnosis. In one patient immunohistochemical analysis with anti-PCNA (proliferative cell nuclear antigen) antibody was useful in distinguishing leiomyomatous hamartoma from benign metastatic leiomyoma.

Adult↗
PubMed1997

[Congenital eccrine angiomatous hamartoma].

BACKGROUND: Eccrine angiomatous hamartoma is an uncommon skin disease with vascular and sudoral components: less than thirty cases have been reported in the literature. CASE REPORT: A 3.5 month-old female infant developed a painful angiomatous plaque on the abdomen which was first seen 15 days after birth. Histology showed numerous vessels and eccrine sudoral glands in the dermis. Exeresis could not be complete and was followed for 15 years. There has been a slight hyperpigmentation with localized hyperhidrosis over the plaque. This hypersudation confirms the diagnosis which could not be confirmed on the initial biopsies. DISCUSSION: This case of congenital eccrine angiomatous hamartoma could only be diagnosed late in the clinical course. This is the first case report on the abdomen, 80 p. 100 of the previous reports were on the limbs. After a 15 year follow-up, there was no progression of the hamartoma and pain regressed gradually. Without secondary development of localized hyperhidrosis, the diagnosis could not have been made. Careful comparison of pathology findings and clinical expression are essential for the diagnosis of eccrine angiomatous hamartoma.

Abdominal Muscles↗
PubMed1998

Genetic pathways of colorectal carcinogenesis rarely involve the PTEN and LKB1 genes outside the inherited hamartoma syndromes.

Germline mutations of the PTEN/MMAC1/TEP and LKB1 genes cause hamartomas to develop in the gastrointestinal tracts of patients with Cowden syndrome and Peutz-Jeghers syndrome, respectively. PTEN mutations may also be responsible for some cases of juvenile polyposis. Histologically, hamartomas appear benign, but there is good evidence that in these syndromes, the hamartomas can progress to colorectal carcinoma. It remains unknown whether or not cancers that develop from hamartomas acquire a spectrum of mutations similar to those in sporadic colon cancers. PTEN and LKB1 are candidate genes for mutations in sporadic colon cancers, either as initiating events in tumorigenesis or providing a selective advantage during tumor growth. Using single-strand conformational polymorphism analysis, we have screened a set of sporadic colon cancers for somatic mutations in PTEN and LKB1. No variants predicted to alter protein function were detected in LKB1, but 1 of 72 cancers showed a somatic mutation in PTEN, together with allele loss. This cancer did not have a detectable APC mutation or allele loss at APC. It remains possible that PTEN and LKB1 are inactivated in other sporadic colon cancers by means such as deletion or promoter methylation. Like BRCA1 and BRCA2, however, it appears that PTEN and LKB1 mutations can cause cancers when present in the germline, but occur rarely in the soma.

AMP-Activated Protein Kinase Kinases↗
PubMed2002

Treatments of hamartoma with neuroendoscopic surgery and stereotactic radiosurgery: a case report.

Hypothalamic hamartoma is a non-neoplastic tumor manifesting as gelastic seizure, precocious puberty, and abnormal behavior. Treatment of it is very complicated due to its location. We report a case of hypothalamic hamartoma treated by neuroendoscopic surgery and stereotactic radiosurgery. A 5-year-old girl presented with violent behavior, precocious puberty, gelastic seizure and atonic seizure. She was diagnosed with hypothalamic hamartoma by CT and magnetic resonance imaging at 11 months of age. Tumor size did not change, but tumor intensity had changed on the MR image at 5 years of age. Magnetic resonance spectroscopy revealed decreased N-acetylaspartate and increased choline and creatine in the tumor. After neuroendoscopic biopsy, she underwent linear accelerator stereotactic radiosurgery. But her symptoms remained unchanged for 6 months. She then underwent partial resection and laser coagulation of the tumor by a neuroendoscopic approach. After the procedure, the frequency of her seizures was remarkably decreased, and her violent behavior improved. The transventricular neuroendoscopic approach to the hypothalamus is less invasive than the radical surgery. Neuroendoscopic surgery can be one of the treatments of choice for hypothalamic hamartoma.

Brain Diseases↗
PubMed1999

Retinal hamartoma in oral-facial-digital syndrome.

Only recently have intraocular findings been described in oral-facial-digital syndrome (OFDS), including 5 cases of chorioretinal colobomas and 1 case of optic nerve coloboma. We report a case of a new ocular anomaly associated with this syndrome: a retinal hamartoma in a male infant with OFDS. The patient had bilateral retinal masses that were suspicious for retinoblastoma because of a family history of retinoblastoma. Physical examination and imaging studies of the retinal masses could not differentiate between retinoblastoma, hamartoma, or persistent hyperplastic primary vitreous. Subsequent pathologic study of an enucleated globe was diagnostic of a retinal hamartoma. This case further illustrates the heterogeneity of ocular anomalies in OFDS and underscores the importance of a complete ophthalmologic evaluation in patients with this syndrome.

Eye Abnormalities↗
PubMed1981

Hamartoma of the hypopharynx.

Hamartomas of the hypopharynx are rare. Detailed microscopic study is necessary to differentiate these tumors from the adult-type rhabdomyoma, pleomorphic rhabdomyosarcoma, and granular cell tumor. To our knowledge, our case of a hypopharyngeal rhabdomyomatous hamartoma removed by a lateral pharyngotomy is the only verified hypopharyngeal case in the literature, although a lesion reported by H. W. Smith in 1959 as a laryngeal rhabdomyoma most probably represents a rhabdomyomatous hamartoma, similar to that of the present case.

Adult↗
PubMed1994

Pulmonary chondroid hamartoma presenting as an inflatable neck mass. Case report and clinicopathologic analysis.

Pulmonary hamartomas most often present as solitary coin lesions of the lung. Less frequently, they can present as cystic lesions in the pulmonary parenchyma. We describe a case of a cystic pulmonary hamartoma presenting as an inflatable neck mass. The lesion was successfully treated by surgical excision using a stated transcervical and thoracotomy approach. The differential diagnosis of inflatable cervical masses is outlined along with a discussion of the pathogenesis and treatment of hamartomas. A clinical technique that is helpful in localizing the source of inflatable cervical masses is described for use when radiologic examinations are not specific in locating the source of the lesion.

Diagnosis, Differential↗