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PubMed1999

Noncalcified pulmonary hamartomas: computed tomography enhancement patterns with histologic correlation.

The objective of this study was to correlate contrast-enhanced computed tomography images of noncalcified hamartomas with histologic specimens to find specific computed tomography enhancement patterns. Over 4 years, 30 noncalcified hamartomas were surgically resected. Enhanced computed tomography images of these hamartomas were reviewed and correlated with histologic findings. Contrast-enhancing septa were present in 24 of 30 hamartomas (80%). Five hamartomas (15%) showed a nonspecific enhancement pattern. The presence of an air bronchogram was a rare finding (5%). Comparison between computed tomography images and pathologic specimens showed that areas with less enhancement corresponded to cartilagineus tissue, and enhancing septa corresponded to loose connective tissue within the cartilagineus core. The rare finding of an air bronchogram corresponded to bronchial epithelium within cartilagineus tissue.

Adult↗
PubMed1999

Colonic hamartoma development by anomalous duplication in Cdx2 knockout mice.

To determine the biological role of caudal-like homeobox gene CDX2, we constructed knockout mice in which its mouse homologue Cdx2 was inactivated by homologous recombination, placing a bacterial lacZ gene under the control of the Cdx2 promoter. Although the homozygous mutants died in utero around implantation, the heterozygotes were viable and fertile and expressed lacZ in the caudal region in early embryos and in the gut tissues in adults. The heterozygotes developed cecal and colonic villi by anteriorization and formed hamartomatous polyps in the proximal colon. The hamartoma started to develop at 11.5 days of gestation as an outpocket of the gut epithelium, which ceased to express the remaining Cdx2 allele. The outpocket then expanded as a partially duplicated gut but was contained as a hamartoma after birth. In adult mice, these hamartomas grew very slowly and took a benign course. None of them progressed into invasive adenocarcinomas, even at 1.5 years of age. Whereas the cecal and colonic villi expressed lacZ, the hamartoma epithelium did not, nor did it express Cdx2 mRNA from the wild-type allele. However, genomic DNA analysis of the polyp epithelium did not show a loss of heterozygosity of the Cdx2 gene, suggesting a mechanism of biallelic Cdx2 inactivation other than loss of heterozygosity. These results indicate that the Cdx2 haploin-sufficiency caused cecal and colonic villi, whereas the biallelic inactivation of Cdx2 triggered anomalous duplications of the embryonic gut epithelium, which were contained as hamartomas after birth.

Animals↗
PubMed2003

[A case of synchronous primary lung cancer with hamartoma].

We present a case of a synchronous primary lung cancer adjacent to a hamartoma. In a 48-year-old man, a nodular shadow was found in the right middle lung field in 1990, and had grown slowly for 10 years. Another mass shadow was detected in the right upper lung field in 2000. The patient was admitted to our hospital for further examination of these abnormal shadows. Bronchoscopic examination revealed, in the right upper lobe, a poorly differentiated adenocarcinoma of clinical stage IIIB. Neoadjuvant chemotherapy followed by pneumonectomy was performed. The microscopic findings for the tumor resected from the right S2 showed poorly differentiated adenocarcinoma and those for the other, in the right S3, showed chondromatous hamartoma. Some 50 reports of lung cancer in parents with a chondromatous hamartoma have appeared in the literature. Most of these cases have some common features as follows: 1) men past middle age, 2) adenocarcinoma, and 3) lung cancer and chondromatous hamartoma present in the same lobe. The present case had all of these features, and may assist in the understanding of the process of development of lung cancer adjacent to a hamartoma.

Adenocarcinoma↗
PubMed2004

[Adenomatoid hamartoma of the ethmoid sinus: one case report].

INTRODUCTION: Hamartomas are non-malignant malformations or inborn errors of tissue development. In the head and neck region, especially in the nasal cavity and the ethmoid sinuses, they are relatively rare. PATIENTS AND METHODS: A case of respiratory epithelial adenomatoid hamartoma of the ethmoid sinus and a review of literature are reported in order to describe the diagnostic and therapeutic management of this tumour. RESULTS: A 74-year-old man complaining for unilateral nasal obstruction for years was referred to our institution. Clinical and radiological studies revealed a large intra-nasal tumour, osteolytic in nature, arising from the right ethmoidal sinus. Fifteen months after a complete excision of the tumour using an endoscopic procedure, the nasal cavity was free of tumour. DISCUSSION AND CONCLUSION: Very rare and classified as non-malignant tumours, hamartomas are composed of excessive proliferation of one or more cellular components specific to a given tissue. They can grow out of any part of the body for example the surface epithelium, seromucous glands and vessels. Hamartomas commonly originate from the lung, kidney and intestine. Their localisation in the nasal cavity, especially in the ethmoid sinus, is unusual, but it is really important to be known to distinguish hamartomas from papillomas and adenocarcinomas not to perform useless and destructive surgery.

Adenomatoid Tumor↗
PubMed2004

[CT findings of pulmonary hamartoma with special reference to epithelial-lined clefts and connection with pulmonary arteries].

PURPOSE: The purpose of this study was to clarify the characteristic CT findings of pulmonary hamartoma. MATERIALS AND METHODS: The thin-section CT and multiplanar reformation images of 19 pulmonary hamartomas diagnosed by surgical resection were analyzed and correlated with the pathological findings. RESULTS: Most hamartomas presented lobulated nodules apart from pleura. There was no case in which fat density was recognized. Only one case was recognized as having calcification. Air density in the connection of the side or the inside was pointed out in 5 cases (26%). Air density reflected epithelial-lined cleft. The connection with the bronchus was recognized in 4 cases (21%), and the connection with the pulmonary artery branch was recognized in 10 cases (53%). However, the connection of the pulmonary artery and bronchus could not be pathologically confirmed in most cases. The connection with the pulmonary vein was not recognized in any of the cases. CONCLUSION: Air density in the connection of the side or the inside is characteristic of pulmonary hamartoma. Pulmonary artery branches connect beyond half of hamartomas. This finding suggests close relations in the bronchus along the artery. It is important that there is no connection of the pulmonary vein, to differentiate it from lung cancer.

Calcinosis↗
PubMed2005

[Lung cancer and chondromatous hamartoma: a case report].

The association lung cancer with chondromatous hamartoma is frequent. We present a case of synchronous primary lung adenocarcinoma and chondromatous hamartoma. Although hamartoma is generally considered to be a benign tumor, there have been several reports of increased risk of lung cancer in patients with a chondromatous hamartoma. Therefore we recommend that patients with hamartoma should be submitted to a complete evaluation and to regular follow up, considering the risk of associated synchronous malignancy.

Adenocarcinoma↗
PubMed1990

Hamartomas.

Hamartomas of the skin are tumor-like malformations of mature or nearly mature structures that are part of the normal structure of skin. The onset is usually at birth; however, it may be delayed until childhood or early adulthood. Hamartomas may occur on any part of the body and are sometimes linear and unilateral. Histologically, they may show an alteration of a single cell line or of multiple related cell lines. Some types of the hamartomas may be markers for underlying internal organ abnormalties, such as the epidermal nevus syndrome, the nevus comedonicus syndrome, or the organoid nevus syndrome. Some may be prone to develop various secondary benign or malignant tumors as in an organoid nevus. Hamartomas may occur as solitary, sporadic lesions unrelated to other conditions or as multiple lesions that are inherited as an autosomal trait. The latter are often associated with systemic abnormalites. Hamartomas such as Becker's pigmented hairy nevus appear to be inherited as an autosomal dominant trait, but the late onset and variable expression may be under hormonal influence. So far only tuberous sclerosis has been shown to be related to a specific chromosomal abnormality, mutant gene located on the long arm of chromosome 9.

Female↗
PubMed1980

[Sclerosing epithelial hamartoma: variant of trichoepithelioma. Three cases (author's transl)].

The sclerosing epithelial hamartoma is a variant of suborganoid hamartoma with pilar differenciation, which was set apart as a distinct entity by MacDonald, Wilson Jones and Marks in 1977. It is similar to the disease formerly described under the title "solitary trichoepithelioma". The clinical and histological features in the three cases of sclerosing epithelial hamartoma that we are reporting differed from those of multiple trichoepithelioma, from which this hamartoma must be separated nosologically. We want to emphasize the quite unusual histological appearance of our third case. The keratinizing cystic structures were quire voluminous and superficial, and there were very few epithelial strands, th histological picture thus being very misleading. We have observed a prominent associated sebaceous hyperplasia architecturally atypical which allowed this sebaceous hyperplasia to be compared to sebaceous epithelioma. Moreover, numerous cholesterol crystals were present in the keratinizing cystic structures. These crystals appeared to be breaking the epithelium of the cyst wall, which resulted in foreign body epitheloid granuloma formation. Nosologically, the sclerosing epithelial hamartoma stands between trichofolliculoma and multiple trichoepithelioma.

Adult↗
PubMed1995

Brunner's gland hamartomas: clinical presentation and pathological features of 27 cases.

OBJECTIVES: The aim of this study was to characterize the clinical presentation, pathological features, and outcome of a series of patients with Brunner's gland hamartomas. METHODS: We reviewed the clinical and pathological features of 27 patients who presented with Brunner's gland hamartomas, and we obtained follow-up information. RESULTS: Patients (12 men and 15 women) presented predominantly in the fifth and sixth decades of life either with gastrointestinal hemorrhage (n = 10) or obstructive symptoms (n = 10); there were also patients whose tumors were discovered as an incidental finding (n = 7). The tumors were generally pedunculated, were located in the first portion of the duodenum, and were in the range of diameter from 1 to 6 cm. Histologically, the hamartomas were characterized by the presence of nondysplastic, lobulated Brunner's glands with intervening bands of fibrous tissue and variable adipose and lymphoid tissue. Focal sclerosis was found in 93% of the hamartomas, possibly mimicking an adenocarcinoma. Whether managed surgically (24 patients) or endoscopically (three patients), the outcome was uniformly favorable. After a median period of 7-yr-follow-up, no tumors recurred, and no additional morbidity was identified. CONCLUSIONS: Brunner's gland hamartomas are rare duodenal tumors occurring in middle age that present either with gastrointestinal hemorrhage, obstructive symptoms, or as an incidental finding. Surgical or endoscopic excision is uncomplicated, and the long-term outcome is favorable.

Adult↗
PubMed1995

[Clinical analysis of lung cancer in patients with chondromatous hamartoma].

Between 1978 and 1993, 776 patients with lung cancer and 18 patients with chondromatous hamartoma were operated on in the department of Surgery II in Okayama University Hospital. 3 patients had both lung cancers and chondromatous hamartomas. They were all men. Two patients were 65 years old and the other was 82 years old. They all pointed out them by a medical examination of chest X-ray. 2 patients had lung cancers and chondromatous hamartomas in the same lobe, the other had them in other lobe of the same side. Lung cancer and chondromatous hamartoma localized in near area. It was difficult to discriminate chondromatous hamartoma between pulmonary metastasis of lung cancer before an operation.

Adenocarcinoma↗
PubMed1994

[Pulmonary hamartoma: atypical cases and current concept of management].

Twenty seven cases of surgically excised pulmonary hamartomas were reviewed. Patient's ages varied from twenty eight year-old to seventy seven year-old with an average of fifty three year-old. Of twenty seven cases, seventeen cases were man, seventeen cases has mass on right lung, and twenty six cases has solitary mass. While twenty five cases were asymptomatic, one case had cough, and the other cases had a history of hemoptysis (Case 3). Medical treatment for pulmonary tuberculosis had been continued unless the confirmed diagnosis on two cases. On one case followed as tuberculosis for twelve years, size of tumor shadow grew to two times bigger on chest X-ray films (Case 1). One of 27 cases showed multiple mass (Case 2). Histopathologically, twenty six cases were chondromatous hamartoma, and one case was non-chondromatous hamartoma. Pulmonary hamartoma is a benign tumor, and majority of cases are asymptomatic and not growing. On cases with presumed pulmonary hamartoma, less invasive thoracoscopic surgery seemed valuable for both therapeutic and diagnostic purpose to avoid continuous non-rational treatment and mental pressure of patient by prolonged follow up with unconfirmed diagnosis since complete differentiation from malignant neoplasm should not satisfactory on many cases.

Adult↗
PubMed2003

Fine-needle aspiration cytology of splenic hamartoma.

Bench-top fine-needle aspiration biopsy (FNAB) following splenectomy and nephrectomy from a 21-yr-old female of tuberous sclerosis with right renal angiomyolipoma and splenic hamartoma was performed for the correlation of the cytologic features with histologic findings and, along with the immunopathologic studies, for the establishment of a challenging preoperative diagnosis of splenic hamartoma. The postoperative bench-top aspirate of splenic hamartoma yielded small and large clusters of plump, spindly to polygonal cells in the blood-stained background with scattered small lymphocytes, comparable with the preoperative echo-guided FNAB. The histopathology and immunopatholgy of the splenic hamartoma from the bench-top aspirate cytoblock and splenectomy tissue were comparable, unveiling the red pulp tissue consisting of wider cord stromal tissue than its normal counterpart with sinus-like vascular channels lined by endothelial cells which were positive for CD8, CD34, factor VIII-related antigen, vimentin, as well as negative for muscle-specific actin, CD21, CD68, and cytokeratin, scattered dispersed CD3- and CD45RO-positive T-lymphocytes, and small clusters of CD20-positive B lymphocytes, with a dearth of fibrous trabeculae and organized white-pulp lymphoid tissue. A combination of cytologic features and immunopathologic results from the aspirate cytoblock along with the salient clinical information should enable an accurate preoperative diagnosis of splenic hamartoma.

Adult↗
PubMed1999

Stereotaxy for hypothalamic hamartoma with intractable gelastic seizures: technical case report

OBJECTIVE AND CLINICAL IMPORTANCE: We report a patient with a hypothalamic hamartoma treated by stereotactic radiofrequency thermocoagulation. CLINICAL PRESENTATION: A 15-year-old girl presented with a hypothalamic hamartoma associated with intractable gelastic and tonic seizures. There were no clinical signs of precocious puberty. Magnetic resonance imaging revealed an isointense suprasellar mass, about 1 cm in diameter. TECHNIQUE: A depth electrode was placed into the hamartoma using a computed tomography-compatible stereotactic frame. Depth electroencephalographic studies allowed us to record the seizure onset from the lesion, and stereotactic radiofrequency thermocoagulation produced seizure remission. CONCLUSION: These findings suggest that hypothalamic hamartoma itself has intrinsic epileptogenicity. We believe that this surgical treatment is effective for the relatively small hypothalamic hamartoma associated with intractable gelastic seizures.

Journal Article↗
PubMed1999

Biliary hamartomas: solitary and multiple lesions shown on current MR techniques including gadolinium enhancement.

The purpose of this study was to describe the magnetic resonance (MR) imaging features of biliary hamartomas on T1- and T2-weighted and gadolinium-enhanced sequences, and to correlate these findings with histopathology. MR imaging findings in four patients with pathologically proved biliary hamartomas are described. In all patients, MR imaging sequences, including T1- and T2-weighted and early and late gadolinium-enhanced images, were retrospectively evaluated for the size, morphology, signal intensity, and enhancement pattern of the lesions. Correlation was made between the MR imaging findings and histopathology. Biliary hamartomas ranged in diameter from 0.5 to 1.5 cm. Lesions were solitary in one patient and numerous in three patients. In all patients, the lesions were low signal on T1-weighted images and high signal and well-defined on T2-weighted images and demonstrated thin rim enhancement on early post-gadolinium images that persisted on late post-gadolinium images. No appreciable central enhancement of the lesions was observed. At histopathology, the lesions were composed of cystic spaces and fibrous stroma. Lesions showed compressed liver parenchyma surrounding the lesions (three cases) and inflammatory cell infiltrate (one case), which correlated with the rim enhancement on the gadolinium-enhanced MR images. Most of the biliary hamartomas in our small series were less than 1 cm in diameter and of high signal intensity on T2-weighted images, and had a thin rim of enhancement on early and late post-gadolinium images. The imaging features were explainable by the underlying histopathology. In patients with known malignancy, caution should be exercised not to misinterpret these lesions as metastases due to the presence of thin rim enhancement. J. Magn. Reson Imaging 1999;10:196-201, 1999.

Adult↗
PubMed1992

Basaloid follicular hamartoma: solitary and multiple types.

BACKGROUND: Multiple skin tumors often show autosomal dominant inheritance; solitary neoplasms are typically nonhereditary. OBJECTIVE: The purpose of this study was to investigate a possible hereditary pattern in patients with multiple and solitary basaloid follicular hamartomas. METHODS: Four new familial cases of multiple basaloid follicular hamartomas and 56 solitary nonhereditary examples were identified and their inheritance pattern recorded. RESULTS: Clinically, basaloid follicular hamartomas were typically 1 to 2 mm, smooth facial papules. Histologically, they were well-circumscribed lesions composed of anastomosing strands of squamoid and basaloid cells in a loose stroma. Horn cysts and pigmentation were common. No significant association with other cutaneous or internal disease was found. CONCLUSION: Basaloid follicular hamartoma, a unique benign follicular tumor, was often diagnosed previously as trichoepithelioma or basal cell carcinoma. It is another cutaneous neoplasm in which patients with multiple lesions show autosomal dominant inheritance, whereas solitary growths with identical clinical, microscopic, and biologic features are nonhereditary.

Adult↗
PubMed1989

Congenital smooth muscle hamartoma. A report of six cases and a review of the literature.

Congenital smooth muscle hamartoma (CSMH) represents a proliferation of randomly oriented dermal smooth-muscle bundles. Six patients with CSMH were observed, the largest series to date, and the literature was reviewed. Congenital smooth muscle hamartoma has presented as congenital patches or slightly indurated plaques with prominent overlying hair (88% of cases), or rarely as patches with perifollicular papules without prominent hair (12% of cases). Most lesions (61% of cases) have been somewhat hyperpigmented, but 39% of cases have been flesh colored. Congenital smooth muscle hamartoma has occurred on the torso and proximal extremities, except for one case on the eyebrow and eyelid (present study). A positive pseudo-Darier's sign (temporary induration or piloerection after rubbing) helped to differentiate CSMH from congenital hairy nevo-cellular nevus. Congenital smooth muscle hamartoma is a distinct entity that is at one end of a spectrum that includes Becker's nevus, and should be considered in the differential diagnosis of any congenital hairy lesion.

Biopsy↗
PubMed1995

Congenital generalized follicular hamartoma associated with alopecia and cystic fibrosis in three siblings.

BACKGROUND: Generalized follicular hamartoma is a rare condition that has been described in association with alopecia, myasthenia gravis, and circulating autoantibodies. To date, all reported cases have appeared in female individuals. We report a kindred in which three siblings were affected by this condition in association with alopecia and cystic fibrosis. OBSERVATIONS: Three children of two consanguineous patients were affected by cystic fibrosis. They also had the same phenotype characterized by senilized facies, partial alopecia, and hypohidrosis, severe retardation of physical growth, and hyperelasticity of the skin. In all three children, skin biopsy specimens revealed the presence of basaloid proliferations at the level of the hair follicles that could not be demonstrated in their healthy parents. Myasthenia gravis did not appear during the clinical course of our patients, and circulating autoantibodies were not detected. All three patients died during childhood due to complications of cystic fibrosis. CONCLUSIONS: Generalized follicular hamartoma is a rare condition previously reported in association with alopecia, myasthenia gravis, and/or circulating autoantibodies (antinuclear and antiacetylcholine receptor antibodies). These are the first congenital cases of generalized follicular hamartoma described, and it is also the first time that an association with cystic fibrosis is reported. The striking association of generalized follicular hamartoma with cystic fibrosis in these three siblings suggests that there may be a genetic linkage between the two conditions.

Alopecia↗
PubMed2000

Hamartomas of the iris and ciliary epithelium in tuberous sclerosis complex.

Astrocytic hamartomas of the retina are the principal ocular manifestation of tuberous sclerosis complex. Iris abnormalities are rare in tuberous sclerosis complex and include focal areas of stromal depigmentation and atypical colobomata. We describe 2 patients who were found on histopathological examination to have lesions consistent with hamartomas of the iris pigment epithelium and ciliary body epithelium. Iris abnormalities, including pupillary irregularities, were noted on clinical examination prior to the development of iris neovascularization in both patients. These observations suggest that iris abnormalities, including atypical colobomas, may be caused by hamartomas of the iris pigment epithelium and ciliary epithelium in some patients with tuberous sclerosis complex. To our knowledge, hamartomas of tissues derived from the anterior part of the neuroectodermal optic cup have not been reported in cases of tuberous sclerosis complex.

Child, Preschool↗