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PubMed1997

Hamartoma of the larynx causing neonatal respiratory distress.

A new-born boy with severe stridor was found to have a laryngeal hamartoma. The airway was secured by means of a tracheostomy, and the hamartoma was subtotally resected endoscopically using a carbon dioxide laser. A good functional result was achieved, even though decannulation was delayed until the age of 33 months. This is the ninth known case of hamartoma of the larynx and the sixth presenting with stridor in the neonatal period.

Hamartoma↗
PubMed2000

HMGI-C and HMGI(Y) immunoreactivity correlates with cytogenetic abnormalities in lipomas, pulmonary chondroid hamartomas, endometrial polyps, and uterine leiomyomas and is compatible with rearrangement of the HMGI-C and HMGI(Y) genes.

High-mobility group (HMG) proteins are nonhistone nuclear proteins that play an important role in the regulation of chromatin structure and function. HMGI-C and HMGI(Y) are members of the HMGI family of HMG proteins, and their expression in adult tissues generally correlates with malignant tumor phenotypes. However, HMGI-C and HMGI(Y) dysregulation as a result of specific rearrangements involving 12q15 and 6p21, the respective chromosomal sites in which the HMGI-C and HMGI(Y) genes are located, is also identified in a variety of common benign mesenchymal tumors, such as lipomas and uterine leiomyomata. The general prevalence of HMGI-C and HMGI(Y) protein expression and its correlation with chromosomal alterations in these benign tumors are unknown. We analyzed 95 human tumors (20 lipomas, 21 pulmonary chondroid hamartomas, 26 uterine leiomyomata, and 28 endometrial polyps) representing a selection of the benign lesions in which karyotypic alterations involving the chromosomal regions 12q15 and 6p21 are frequently detected. All cases were successfully karyotyped and some of them analyzed by fluorescent in situ hybridization with probes spanning the HMGI-C and HMGI(Y) genes. The results of this study demonstrate that expression of HMGI-C or HMGI(Y) is a common occurrence in lipomas, pulmonary chondroid hamartomas, leiomyomata, and endometrial polyps; that it correlates with 12q15 and 6p21 chromosomal alterations (p < 0.001); and that it is compatible with rearrangement of the HMGI-C and HMGI(Y) genes. The expression pattern and cellular localization of the immunoreactivity support the view that in biphasic lesions composed of a mixture of both stromal and epithelial cells, such as pulmonary chondroid hamartoma and endometrial polyps, the mesenchymal component is the site of the HMGI genetic alterations.

Chromosome Aberrations↗
PubMed2004

Simultaneous expression of COX-2 and mPGES-1 in mouse gastrointestinal hamartomas.

Cyclo-oxygenase (COX)-2 is induced in various types of cancer tissues. Here, we demonstrate stromal expression of both COX-2 and microsomal prostaglandin E(2) synthase (mPGES)-1 in gastrointestinal hamartomas developed in Lkb1(+/-), Smad4(+/-) and Cdx2(+/-)mice. These results suggest that PGE(2) produced by COX-2 and mPGES-1 plays an important role in hamartoma development regardless of the mutated genes causing hamartomas.

AMP-Activated Protein Kinases↗
PubMed2003

Fine needle aspiration cytology of mammary hamartoma: a review of nine cases with histological correlation.

Mammary hamartoma is a breast lesion rarely reported by fine-needle aspiration cytology (FNAC). We report on our experience of FNAC in nine cases confirmed by biopsy. We searched hospital case files for mammary hamartoma or similar lesions (fibrolipomas, lipomas, fibromas, etc.), and cases included were only those in which both FNAC and a histopathological study had been performed. The cytological features that were analysed included epithelial components, mesenchymal fragments and isolated cells dispersed in the background. The patients ranged in age from 25 to 58 years (mean 40 years), and the lesions were predominantly in the right breast and upper outer quadrant. The duration varied from 1 to 20 years. Mammographic features were characteristic revealing well-circumscribed masses of heterogeneous radiodensity and by ultrasonography were hypoechoic without calcification. Grossly, these lesions were oval to round, well-demarcated masses, ranging in diameter from 10 to 80 mm. The tumours were firm, rubbery and white, consisting largely of dense fibroconnective tissue with variable amounts of adipose tissue and glandular elements. Cytological samples showed two components, epithelial and mesenchymal. The cellularity was variable and was composed of lobular cells forming acini, ductal cells, occasional apocrine and foamy cells; myoepithelial cells and isolated naked nuclei were also observed. Adipose tissue and dense fibrous tissue were observed, occasionally with epithelial cells attached, and this finding was an important feature for diagnosis. We considered that the cytological findings could help to diagnose mammary hamartoma, FNAC making a rapid and very important technique for the diagnosis of this pathology.

Adult↗
PubMed1999

Hamartoma of the urinary bladder.

BACKGROUND: Hamartomas of the urinary bladder are extremely rare. We report on a case in a 58-year-old female who presented with the chief complaint of pain on urination. METHODS/RESULTS: Cystoscopy revealed a solid tumor on the left posterior wall of the bladder. Transurethral resection of the tumor failed to provide a definitive pathological diagnosis of the tumor. Thus, we performed partial cystectomy. The pathological diagnosis was hamartoma arising from the urinary bladder. CONCLUSION: This is the ninth case diagnosed as urinary bladder hamartoma to be reported in the literature.

Cystoscopy↗
PubMedDate not supplied

Hamartomas of the breast: clinical, radiologic, and pathologic manifestations.

Between 1986 and 1996, 35 patients with a diagnosis of hamartoma of the breast were seen at the Mayo Clinic. One patient had two lesions. The mean age was 50 years (range 21-86 years). Hamartomas were clinically identified as a palpable lump in 18 cases (11 were detected by the patient and 7 by a physician). The other 18 were identified mammographically. Twenty-four lesions were in the left breast and 12 were in the right breast; 39% were located in the upper outer quadrant. Mammographically most hamartomas were ovoid, and the lesions were well circumscribed. Sonographically they were all solid, but 24% showed cystic areas. Pathologically the mean greatest diameter was 3.2 cm (range 1.0-7.5 cm). All but one lesion showed circumscription. The mean percentage of fibrous tissue was 78% (range 5-95%), fat 13% (range 0-95%), and epithelium 9% (range 1.0-60%). Calcifications were seen in four lesions. Ductal hyperplasia was present in 27% and adenosis in 70% of lesions. Twelve percent of patients had coexistent fibroadenomas.

Adult↗
PubMedDate not supplied

Perianal striated muscle hamartoma associated with hemangioma.

Striated muscle hamartoma is a rare entity which was described only recently. It is a congenital malformation characterized by the presence of striated, mature muscle fibers in the reticular dermis and hypodermis. We describe a striated muscle hamartoma of the perianal region in a female infant associated with an hemangioma in the same area that regressed completely. Including the present patient, only 14 cases of striated muscle hamartomas have been reported, but this association with an hemangioma is unique. The lesion was polypoid and histopathologic examination showed numerous striated muscle fibers located within the dermis.

Anal Canal↗
PubMedDate not supplied

Multiple familial smooth muscle hamartomas.

Smooth muscle hamartoma is a cutaneous abnormality characterized by a disorganized proliferation of normal muscle fibers of arrector pili. Usually a single congenital hypertrichotic plaque involves the trunk and the extremities. Multiple lesions have rarely been reported in the literature. We describe three members of the same family with multiple skin-colored patches on the back and legs, histologically confirmed as smooth muscle hamartomas. To our knowledge this is the first report of multiple smooth muscle hamartomas in different members of the same family and quite interestingly involving the same skin site.

Adult↗
PubMed2003

Hypothalamic hamartoma and seizures: a treatable epileptic encephalopathy.

Hypothalamic hamartomas may be associated with gelastic seizures, focal seizures, and a generalized epileptic encephalopathy, with severe seizures and cognitive and behavior decline. Despite earlier views to the contrary, good evidence now exists that all these clinical features are caused, directly or indirectly, by the hamartoma. Resection of these lesions was long regarded as too hazardous and unlikely to benefit seizure control. It is now clear that hypothalamic hamartomas can be effectively treated with a variety of surgical approaches with sustained seizure control and often seizure freedom. Qualitative observations suggest that behavior and cognition also improve with treatment, but quantitative validation is required. The specific approach should be tailored according to the surgical anatomy of the lesion and the experience of the surgeon. Choices include a transcallosal approach (good for intraventricular lesions), a pterional approach (useful for interpeduncular lesions), a transventricular endoscopic approach, or destruction of the lesion with radiofrequency probes or gamma knife radiosurgery. The previously dismal outlook for children with severe seizures associated with this lesion has now dramatically changed. These insights may have implications for other epileptic encephalopathies of childhood.

Adolescent↗
PubMed2002

Rare mesenchymal lesions: Hamartoma of the chest wall and juvenile active ossifying fibroma in siblings.

Mesenchymal hamartomas of the thorax are known as rare dysontogenetic tumorous non-neoplastic lesions. The juvenile active ossifying fibroma (JAOF) also is considered as a benign tumor like lesion of the mesenchymal connective tissue. The authors report the cases of 2 siblings-a 2-year-old girl with a hamartoma of the chest wall and her 4-year-old brother with a JAOF. The girl had bilocular mesenchymal hamartoma in the area of the 8(th) rib diagnosed in the first year of life, which was surgically removed completely. Her brother had been treated for JAOF of the right nasal sinus area diagnosed at the age of 15 months. Both lesions are extremely rare mutations of the local tissue, which occur typically in early childhood and continue benignly after surgical resection, but such a familial occurrence in siblings has not yet been reported. Furthermore, according to the histologic findings, the JAOF also could be seen as a hamartomatous lesion.

Bone Neoplasms↗
PubMed2001

Hypothalamic hamartoma associated with an arachnoid cyst.

A hypothalamic hamartoma associated with an arachnoid cyst in an 8-year-old boy is reported herein. He presented with precocious puberty, and neuroimaging studies demonstrated a solid mass in the prepontine cistern and a huge arachnoid cyst in the left cranial fossa. The mass appeared isointense to the surrounding cerebral cortex on T1-weighted magnetic resonance images, hyperintense on T2-weighted images, and was not enhanced after administration of Gd-DTPA. The patient underwent a left frontotemporal craniotomy and a cyst-peritoneal shunt was inserted. Histological features of the cyst wall and the mass were characteristic of an arachnoid cyst and hamartoma, respectively. While a hypothalamic hamartoma associated with an arachnoid cyst is rare, such a case may help clarify the geneses of both anomalous lesions.

Arachnoid↗
PubMed1976

[The multiplicity of radiological findings in pulmonary hamartomas (author's transl)].

Difficulties in the differential diagnosis of pulmonary hamartomas are illustrated on the basis of 19 patients with this condition, and with reference to the radiological literature. All the patients in the present series were treated surgically, either because a mistaken diagnosis of a bronchial carcinoma had been made, or because a carcinoma could not be excluded with sufficient certainty. In several cases the patient requested removal of the tumour in order to clarify the diagnosis after several years without symptoms. Pulmonary hamartomas do not always show the appearances described as typical; atypical appearances occur and were rather frequent in our material, amounting to 25%. Despite various difficulties, it is occasionally possible to put an hamartoma first in the differential diagnosis of a lung tumour, particularly if there are no clinical features to suggest malignancy. A definitive diagnosis can be made only by histology after removal of the tumour.

Adult↗
PubMed2001

[Diagnosis and differential diagnosis of the combined hamartoma of the retina and retinal pigment epithelium].

BACKGROUND: The combined hamartoma of the retina and the retinal pigment epithelium (CHR-RPE) is an important differential diagnosis of retinal and choroidal diseases with variable degrees of pigmentation. PATIENTS: The clinical picture and typical fluorescence angiography findings of two adult patients who were first diagnosed to have a combined hamartoma of the retina and retinal pigment epithelium are presented. The referral diagnosis macular pucker and malignant melanoma of the choroid, respectively, are discussed regarding severe therapeutic interventions such as pars plana vitrectomy with membrane peeling (macular pucker), and radiotherapy, or enucleation (malignant melanoma of the choroid) as well as other important differentials. RESULTS: The combined hamartoma of the retina and the retinal pigment epithelium is a benign congenital, mostly unilateral retinal lesion. The presenting symptom is a painless, unilateral, often silent loss of vision. Histologically, three cell populations can be identified: glial, vascular, and pigmented cells. Variations in composition of these three cell types are responsible for the heterogeneous clinical picture and thus diagnostic challenges. The greyish retinal tumor located peripapillary in most cases with varying degrees of pigmentation and surrounding vascular tortuosity can result in secondary changes at the vitreoretinal interface with deterioration of vision. Combined fluorescein-/indocyaningreen angiography and ultrasound are crucial for diagnostic evaluation. Documentation and regular clinical follow-up examinations are essential for successful management of this disorder. CONCLUSION: Recognition of this rare clinical entity is crucial for administering the appropriate therapy.

Adult↗
PubMed2002

Endosonographic features of Brunner's gland hamartomas which were subsequently resected endoscopically.

BACKGROUND AND STUDY AIMS: Brunner's gland hamartomas are uncommon duodenal submucosal tumors. We aim to describe their morphological characteristics, with particular attention to the endosonographic features. PATIENTS AND METHODS: We reviewed the radiological, endoscopic, endosonographic, and histological findings from six Brunner's gland hamartomas which were completely removed by endoscopic resection. RESULTS: The lesions appeared as broad-based, sessile, or pedunculated submucosal tumors, measuring 0.7 to 2 cm in maximal diameter. Three lesions contained tiny dimple-like depressions on the surface; in one lesion these were only recognized following the use of an endoscopic dye-spraying technique. All the lesions could be safely removed by endoscopic resection after endosonographic confirmation of the layer origin within the submucosa. The internal echo structure of the tumors appeared to be solid echogenic in two, simple cystic in two, and multicystic in the remaining two lesions. In three lesions with an indistinct boundary, some stromal proliferation and solid Brunner's glands were recognized in an area extending from the mucosa to the submucosa. These endosonographic features corresponded to histological findings comprising stromal proliferation and various degrees of solid and cystic glandular Brunner's glands. CONCLUSIONS: Brunner's gland hamartoma is characterized endosonographically by a heterogeneous solid and/or cystic mass within the submucosa.

Adult↗
PubMed1991

A hamartoma of the colon with unusual features.

An unusual case of colonic hamartoma in a 67-year-old man is reported. Colonoscopy polyp surveillance revealed a polypoid lesion of the sigmoid colon which had the characteristics of a hamartoma on microscopic examination. The lesion, which was classified as a colonic hamartoma, is described. Review of the literature revealed no previous report of such a colonic poylp.

Aged↗
PubMed1977

Hypothalamic hamartoma: a source of luteinizing-hormone-releasing factor in precocious puberty.

The presence of a hypothalamic hamartoma and precocious puberty in a 19-month-old boy provided an opportunity to study their relation. Excised tissue had the ultrastructural characteristics of an independent neuroendocrine unit -- i.e., neurons containing neurosecretory granules and blood vessels with fenestrated endothelium and double basement membranes. Immunofluorescence studies using specific antibody to luteinizing-hormone-releasing factor showed antigenicity to the factor in the hamartoma. The testicular-hypothalamic-pituitary axis was tested. Clomiphene unresponsiveness suggested a lack of maturation of central-nervous-system events characteristic of normal puberty. The negative feedback system between gonad and brain was intact but partially resistant to steroid suppression. These studies suggest that hypothalamic hamartomas may cause precocious puberty by autonomous production and release of luteinizing-hormone-releasing factor into vessels that communicate with the pituitary portal blood system.

Brain Neoplasms↗
PubMed2000

Autosomal dominantly inherited generalized basaloid follicular hamartoma syndrome: report of a new disease in a North Carolina family.

BACKGROUND: An 8-year-old girl presented with hundreds of milia, measuring 1 to 2 mm; comedone-like lesions; skin-colored and hyperpigmented papules on the face, scalp, ears, neck, upper trunk, and lower arms along with diffuse scalp hypotrichosis; and pinpoint palm/sole pits. Onset was in early childhood and the disease was historically present in 6 generations. OBJECTIVE: Our objectives were to delineate the clinical and histopathologic features and mode of inheritance as a base for gene studies. METHODS: Eighteen family subjects were studied. Twenty-six skin biopsy specimens were examined. A detailed pedigree was constructed. A complete literature search was done concerning diseases with generalized basaloid follicular hamartomas. RESULTS: The lesions were basaloid follicular hamartomas and other folliculocentric abnormalities. Inheritance was autosomal dominant. Extensive literature search confirmed the finding of a unique genodermatosis. CONCLUSION: A new genodermatosis termed dominantly inherited generalized basaloid follicular hamartoma syndrome was defined by delineating its clinical and histopathologic features and mode of inheritance and by extensive literature review.

Adolescent↗
PubMed2001

Basaloid/follicular hyperplasia overlying connective tissue/mesenchymal hamartomas simulating basal cell carcinomas.

BACKGROUND: Basaloid hyperplasia has been described overlying dermatofibromas as well as in the epidermis overlying nevus sebaceus. Although the morphology of these areas may resemble that of basal cell carcinoma (BCC), in the majority of cases aggressive behavior of the proliferation is not seen. In fact, the basaloid proliferation often shows follicular differentiation and may be stimulated and maintained by its relationship with the underlying stromal cells. OBJECTIVE: We wanted to determine whether immunohistochemical staining for antibodies, which may suggest differences in pathogenesis, were different in basaloid hyperplasia overlying connective tissue/mesenchymal hamartomas and BCC. METHODS: We report 3 cases of connective tissue/mesenchymal hamartomas with overlying basaloid hyperplasia, in which the areas of the basaloid proliferation showed follicular differentiation. Immunohistochemical stains included Ber-EP4, PCNA, Ki-67, Bcl-2, p53, SM-Actin, CD31, factor XIIIa, KP-1, and CD34. RESULTS: There was a diffuse positive reaction for Ber-EP4 in all specimens and there was increased nuclear staining for PCNA and Ki-67. There was focal cytoplasmic staining for Bcl-2 in the areas of basaloid hyperplasia. Immunohistochemical staining for p53 showed only scattered positive cells except in a small focus in the areas of basaloid hyperplasia. The connective tissue component of all lesions showed diffuse staining for CD34 surrounding areas of basaloid hyperplasia in the mesenchymal component as well as in abundant S-100(+) nerves. CONCLUSION: The areas of basaloid hyperplasia in these hamartomas exhibited an immature phenotype similar to that seen in both BCCs and follicular tumors; however, the patterns of proliferation markers, p53, Bcl-2, and the surrounding stromal cell markers were similar to those of benign follicular tumors. Thus the staining pattern for this group of antibodies suggests that areas of basaloid hyperplasia are not BCC.

Adult↗