An unusually encountered folliculosebaceous cystic hamartoma clinically resembling an epidermal inclusion cyst.

Folliculosebaceous cystic hamartoma (FSCH) is a rare cutaneous hamartoma comprising epithelial and mesenchymal components. It typically appears as slow-growing, skin-coloured nodules on the face and scalp. We report a case of a mid-forties male with a 4 mm nodule on his left temple, initially thought to clinically represent an epidermal inclusion cyst (EIC). Excisional biopsy results identified the lesion as FSCH, characterised by its unique dilated infundibulocystic configuration with radiating sebaceous lobules and associated mesenchymal elements. FSCH can be misdiagnosed for EIC due to similar clinical presentations but has distinct histological features. Surgical excision is the standard treatment, and the patient has remained recurrence-free since the procedure. This case underscores the importance of considering FSCH in the differential diagnosis of particularly facial and scalp nodules.

Endotracheal hamartoma causing persistent dyspnoea after coronary artery bypass grafting.

Pulmonary hamartomas are abnormal growths of mature cell or tissue types, including cartilage, epithelium, fat or muscle. Although most cases are benign, asymptomatic and often incidentally discovered, these masses may provoke significant complications via predisposition to obstruction, ischaemia or infection. Pulmonary hamartomas located within the tracheal lumen are exceedingly rare clinical entities which produce symptoms of dyspnoea, cough, stridor, wheezing or angina. Significant clinical consequences include airway obstruction and cardiovascular collapse. Most cases of tracheal hamartoma are initially diagnosed as obstructive pulmonary disease. We present a structured case report of a tracheal hamartoma identified in a patient with recent coronary artery bypass grafting who was initially evaluated for persistent ischaemic pathology, resulting in delay of diagnosis. By review of limited literature of this disorder, we emphasise the need for clinicians to be aware of this indolent and rare entity.

Extremely Rare Coexistence of Peripherally Located Mucous Gland Adenoma and Pulmonary Chondroid Hamartoma.

Pulmonary mucous gland adenomas (MGAs) originating in mucous-secreting cells in the bronchi are extremely rare benign tumours. Pulmonary chondroid hamartomas (PCHs) are the most common benign neoplasms of mesenchymal origin of the lung. This study reports an unusual case where MGA and PCH coexisted in a peripheral intra-parenchymal location. A patient with a 1-cm non-specific nodule in the left lung on a computed tomography scan underwent wedge resection. Microscopically, mesenchymal elements consisting of fat and cartilage tissue were observed. Mucous glands were present around these mesenchymal elements. No cellular atypia or mitosis was observed. This allowed for complete treatment without the need for a segmentectomy.

Magnetic Resonance-Guided Laser Interstitial Thermal Therapy in the Management of Hypothalamic Hamartomas: A Systematic Review and Meta-Analysis.

OBJECTIVE: Magnetic resonance-guided laser interstitial thermal therapy (MRg-LITT) is a promising new technique to ablate epileptic foci in patients with hypothalamic hamartoma (HH). We aim to systematically synthesize all available evidence and determine the effectiveness of MRg-LITT in reducing seizures in patients with HH. METHODS: We systematically searched MEDLINE (PubMed), Embase (Ovid), Scopus, and Google Scholar for all relevant articles. We used Open[Meta]Analyst to pool the number of seizure-free patients after MRg-LITT treatment in a random-effects model. Risk ratios were calculated, and subgroups were analyzed. Comprehensive meta-analysis was used to assess publication bias via funnel plots, Egger's regression test, and Begg's correlation test. This review complies with the Preferred Reporting Items for Systematic Review and Meta-Analyses guidelines. RESULTS: After screening the titles, abstracts, and full texts, we included 17 articles in our meta-analysis, which revealed a 77.1% rate of seizure freedom (95% confidence interval 0.696-0.837, P<0.001), with moderate heterogeneity (I2=49.46%). Subgroup analysis by study design and sensitivity analyses excluding 1 study at a time did not impact the results substantially, and we found no evidence of publication bias. Adverse effects included electrolyte imbalances, weight gain, and transient neurologic disturbances. CONCLUSIONS: MRg-LITT might be a feasible and effective technique for ablation of epileptic foci, leading to seizure freedom in a large proportion of patients with HH. However, there is a paucity of literature on the topic, and prospective clinical trials with larger number of participants comparing MRg-LITT to open surgery are needed.

Giant Myoid mammary hamartoma: A case report.

ABSTRACT: Mammary hamartoma are rare neoplasms of the breast. Myoid mammary hamartoma are a subtype comprising of prominent smooth muscle component along with normal breast tissue components including fibrous, adipose, and glandular tissue. We report the case of a 38-year-old lady who presented with a large 21 × 15 cm, firm, mobile lump in right breast, clinically mimicking as phyllodes tumor. The lesion was reported as BIRADS 4a on mammography. Fine needle aspiration cytology suggested benign breast disease. Wide local excision was performed. The excised lump was solid, gray-white with fatty yellowish areas. Histological features were of myoid mammary hamartoma. To the best of our knowledge, this is the largest myoid hamartoma reported till date. Fine needle aspiration, needle biopsy, and immunohistochemistry are of limited value as diagnostic modalities in these lesions. Complete surgical excision, proper identification, and follow-up is essential, as these lesions, more commonly those which are incompletely excised, can recur.

Ileo-ileal intussusception secondary to a Peutz-Jeghers hamartomatous polyp in an infant.

We report the case of ileo-ileal intussusception secondary to a Peutz-Jeghers syndrome (PJS) hamartomatous polyp in a male infant. The patient presented with non-bilious vomiting and a single episode of passing blood in his stool. An upper gastrointestinal contrast study showed proximal bowel obstruction. At laparotomy, ileo-ileal intussusception was identified with a papillary mass acting as a lead point. The mass was resected, and a primary anastomosis was performed. The patient recovered well and was discharged on postoperative day 5. Histological assessment diagnosed a PJS hamartoma. The patient was well at 1 month follow-up. This case report describes a rare cause of intussusception in an infant that should be considered in the differential diagnosis. The diagnosis of PJS in infancy is uncommon and requires long-term follow-up.

Direct resection is a safe and effective strategy to control seizures in patients with hypothalamic hamartoma.

Achieving favorable seizure outcomes is challenging in patients with seizures resulting from hypothalamic hamartoma. Although minimally invasive and non-invasive surgical procedures are used to treat this population, these procedures have limitations. Therefore, we analyzed the outcomes of patients with hypothalamic hamartoma following direct resection. We included 159 patients with hypothalamic hamartoma who underwent direct resection using the transcallosal interforniceal approach between 2011 and 2018. The relationships between clinical parameters and seizure outcomes were analyzed. In total, 55.3% achieved gross total resection and 25.2% underwent near-total resection. Of all patients, 79.2% were overall seizure-free at one year, but this number dropped to 77.0% at more than five years. Moreover, 88.4% (129/146) reached gelastic seizure (GS)-free status at one year and this number increased to 89.0% (97/109) at more than five years. Seventy-one patients took antiseizure medication (ASM) long-term, 68 took it for one year, and 11 took it for one-half year. The duration of ASM consumption (p < 0.001) and extent of hypothalamic hamartoma resection (p = 0.016) were significant independent predictors of long-term overall seizure-free survival, while the duration of ASM consumption (p = 0.011) and extent of hypothalamic hamartoma resection (p = 0.026) were significant independent predictors of long-term GS-free survival. Most patients' behavior, school performance, and intelligence were not affected after surgery. Direct resection is effective and safe strategy for patients with hypothalamic hamartomas. Hypothalamic hamartomas should be removed as completely as possible, and patients should take ASM long-term following surgery to reach long-term overall seizure-free or GS-free status.

A rare case of asymptomatic giant pulmonary hamartoma.

BACKGROUND: Pulmonary hamartomas are benign lung lesions. Histopathologically, pulmonary hamartoma is composed of varying amounts of mesenchymal elements, including chondroid tissue, mature adipose tissue, fibrous stroma, smooth muscle, and entrapped respiratory epithelium. Most pulmonary hamartoma cases are asymptomatic and found incidentally during imaging. They usually appear as well-circumscribed lesions with the largest dimension of less than 4 cm. Asymptomatic giant pulmonary hamartomas that more than 8 cm are rare. CASE PRESENTATION: In the current case report, a 12.0 × 9.5 × 7.5 cm lung mass was incidentally noticed in a 59-year-old female during a heart disease workup. Grossly, the lesion was lobulated with pearly white to tan-white solid cut surface and small cystic areas. Microscopically, representative tumor sections demonstrate a chondromyxoid appearance with relatively hypocellular stroma and entrapped respiratory epithelium at the periphery. No significant atypia is noted. No mitosis is noted, and the proliferative index is very low (< 1%) per Ki-67 immunohistochemistry. Mature adipose tissue is easily identifiable in many areas. Histomorphology is consistent with pulmonary hamartoma. A sarcoma-targeted gene fusion panel was further applied to this case. Combined evaluation of microscopic examination and sarcoma-targeted gene fusion panel results excluded malignant sarcomatous transformation in this case. The mediastinal and hilar lymph nodes are histologically benign. After surgery, the patient had an uneventful postoperative period. CONCLUSIONS: Giant pulmonary hamartoma is rare; our case is an example of a huge hamartoma in an asymptomatic patient. The size of this tumor is concerning. Thus, careful and comprehensive examination of the lesion is required for the correct diagnosis and to rule out co-existent malignancy.

An Unusual Case of Hypothalamic Hamartoma With Nongelastic Seizures and Posterior Cortex Connectivity.

BACKGROUND: To describe a rare seizure semiology originating from a hypothalamic hamartoma in a child, along with unusual ictal onset and connectivity pattern, and provide a review of the pathophysiology of epilepsy associated with hypothalamic hamartoma and management. METHODS: A detailed retrospective chart review and literature search were performed using Pubmed and Embase. RESULTS: We present a case of a three-year-old male who presented with dyscognitive seizures with onset at age 22 months. Stereoelectroencephalography exploration confirmed the onset in hypothalamic hamartoma with rapid propagation to the temporal-parietal-occipital association cortex and precuneus. The patient's epilepsy was cured with laser ablation of the hamartoma. CONCLUSION: Published literature mostly describes a more anterior frontal or temporal epileptic network with primarily gelastic seizures being the hallmark type of seizures associated with hypothalamic hamartoma. We highlight a rare posterior cortex network with an atypical presentation of focal nonmotor seizures with impaired awareness in the setting of a hypothalamic hamartoma. Stereotactic laser ablation of the hamartoma rendered seizure freedom. Early diagnosis and appropriate treatment can lead to seizure freedom.

Surgical and radiosurgical treatment of hypothalamic hamartoma: The Italian experience between 2011 and 2021.

OBJECTIVE: To investigate the Italian experience on the surgical and radiosurgical treatment of drug-resistant epilepsy due to hypothalamic hamartoma (HH) in the period 2011-2021 in six Italian epilepsy surgery centers, and to compare safety and efficacy profiles of the different techniques. METHODS: We collected pseudo-anonymized patient's data with at least 12 months of follow-up. Surgical outcome was defined according to Engel classification of seizure outcome. Univariate analysis was performed to assess the risk of post-operative seizures, categorized in dichotomous variable as favorable and unfavorable; explanatory variables were considered. Mann-Whitney or Chi-squared test were used to assess the presence of an association between variables (p < 0.05). RESULTS: Full presurgical and postoperative data about 42 patients from 6 epilepsy surgery centers were gathered. Engel class I was reached in the 65.8% and 66.6% of patients with gelastic and non-gelastic seizures, respectively. Other than daily non-gelastic seizures were associated with seizure freedom (p = 0.01), and the radiological type presented a trend toward significance (p = 0.12). SIGNIFICANCE: Endoscopic disconnection and laser interstitial thermal therapy are effective in the treatment of HH-related epilepsy, with a tolerable safety profile. Both gelastic and non-gelastic seizures can be treated, also in patients with a long history of seizures. PLAIN LANGUAGE SUMMARY: This study collected data about 42 patients with HH-related epilepsies. Endoscopic disconnection and laser therapy are both effective and safe in the treatment of hypothalamic hamartoma-related epilepsies.

Epileptic encephalopathies secondary to hypothalamic hamartomas treated with radiosurgery: A case series.

OBJECTIVE: Hypothalamic hamartomas are congenital lesions that typically present with gelastic seizures, refractory epilepsy, neurodevelopmental delay, and severe cognitive impairment. Surgical procedures have been reported to be effective in removing the hamartomas, however, they are associated with significant morbidity. Therefore, it is not considered a safe therapeutic modality. Image-guided robotic radiosurgery (CyberKnife® Radiosurgery System) has been shown to provide good outcomes without lasting complications. METHODS: This series of cases describes the clinical, radiological, radiotherapeutic, and postsurgical outcomes of five patients with epileptic encephalopathies secondary to hypothalamic hamartomas who were treated with CyberKnife®. RESULTS: All patients exhibited refractory epilepsy with gelastic seizures and were unsuitable candidates for surgical resection The prescribed dose ranged between 16 and 25 Gy, delivered in a single fraction for four patients and five fractions for one patient while adhering strictly to visual pathway constraints. After radiosurgery, four patients maintained seizure control (one with an Engel class Ia, three with an Engel class 1d), and another presented sporadic, nondisabling gelastic seizures (with an Engel class IIa). After 24-26 months of follow-up, in three patients, their intelligence quotient scores increased. No complications were reported. SIGNIFICANCE: This report suggests that Cyberknife may be a good option for treating hypothalamic hamartoma, particularly in cases where other noninvasive alternatives are unavailable. Nevertheless, additional studies are essential in order to evaluate the effectiveness of the technique in these cases.

Sinonasal seromucinous hamartoma: a single institution case series combined with a narrative review of the literature.

PURPOSE: This study aimed to investigate the clinical and histopathological characteristics of sinonasal seromucinous hamartomas (SHs). METHODS: Eight patients with sinonasal SH and treated at a tertiary hospital between November 2005 and September 2023 were included. Additionally, a systematic review of published articles was conducted, analyzing 48 cases of SH described in the literature. RESULTS: Among the eight patients treated at our institution, tumors originated from the posterior nasal cavity in four patients and middle turbinate and middle meatus were the primary origin in two patients each. Coexistence of inflammatory nasal polyps (NPs) was observed in four cases. Histopathologically, four patients exhibited focal respiratory epithelial adenomatoid hamartoma (REAH) features, and low-grade dysplasia was found in one patient. A combined analysis with previous literature revealed that 46.3% of all cases originated in the anterior nasal cavity. The proportions of cases accompanied by NPs and those with focal REAH features were 20.5% and 39.1%, respectively. Additionally, the frequencies of cases exhibiting dysplastic features (5.4%) and recurrence (2.1%) were low. Remarkably, tumors originating from the anterior region tended to have a higher frequency of dysplasia than those originating from the posterior region, although this difference was not statistically significant (p = 0.0996). CONCLUSION: Patients with sinonasal SH showed favorable treatment outcomes following surgical resection. Focal REAH features and accompanying NPs were frequently observed. A substantial proportion of cases originate in the anterior nasal cavity, and these tumors may exhibit a high tendency for dysplasia.

Hamartoma of mature cardiac myocytes presenting as a polypoid epicardial tumor in the interatrial groove and with gene fusions by copy number anomalies of chromosome 7.

Hamartoma of mature cardiac myocytes (HMCM) is an extremely rare cardiac tumor characterized by benign growth of differentiated mature striated cardiac myocytes, and usually involves the ventricular myocardium. We describe the case of a 15-year-old female who presented with a short history of atrial fibrillation and a polypoid epicardial tumor that was attached to the interatrial groove by a short pedicle. The resected specimen showed features consistent with HMCM. Although these tumors are not associated with any known molecular or cytogenetic abnormalities, we identified fusions transcripts along with complex copy number anomalies of chromosome 7.

Clinical Features and Surgical Outcomes of Spinal Hamartomas: Surgical Treatment of 8 Patients.

OBJECTIVE: Rarely do spinal hamartomas receive attention in the literature, and the majority of previous studies consist of case reports. The purpose of this report, then, is to provide a more accurate diagnosis and treatment of spinal hamartomas by presenting the clinical and surgical outcomes of 8 cases. METHODS: The researchers conducted a retrospective analysis of the data for 8 individuals with spinal hamartomas. The 8 patients had undergone both preoperative and postoperative magnetic resonance imaging (MRI) and went through surgery. Radiologic and pathologic criteria were applied to diagnose the spinal hamartomas. The Modified McCormick classification system was used to evaluate neurologic function in these patients. RESULTS: Among the 8 patients, 6 were male and 2 were female, with an average age of 37.4 years. The typical duration of symptoms was 14.5 months. During surgery, all lesions were well-defined and located in the bone marrow. Gross total resection (GTR) was achieved in 6 cases, and the anatomical plane was clearly delineated, and subtotal resection (STR) was achieved in 2 cases. None of the patients took postoperative radiotherapy. 14.5 months was the average follow-up period during this time, and MRI did not observe the recurrence or regeneration of residual tumors. The McCormick grade was improved in 7 patients and remained stable in 1 patient. CONCLUSIONS: Spinal hamartomas are benign, but they are clinically progressive lesions. Pathology is the basis of accurate diagnosis, and complete preoperative evaluation is crucial for providing suitable treatment and prognosis.

Intraoperative changes in large-scale thalamic circuitry following laser ablation of hypothalamic hamartomas.

BACKGROUND AND OBJECTIVES: Gelastic seizures due to hypothalamic hamartomas (HH) are challenging to treat, in part due to an incomplete understanding of seizure propagation pathways. Although magnetic resonance imaging-guided laser interstitial thermal therapy (MRgLITT) is a promising intervention to disconnect HH from ictal propagation networks, the optimal site of ablation to achieve seizure freedom is not known. In this study, we investigated intraoperative post-ablation changes in resting-state functional connectivity to identify large-scale networks associated with successful disconnection of HH. METHODS: Children who underwent MRgLITT for HH at two institutions were consecutively recruited and followed for a minimum of one year. Seizure freedom was defined as Engel score of 1A at the last available follow-up. Immediate pre- and post- ablation resting-state functional MRI scans were acquired while maintaining a constant depth of general anesthetic. Multivariable generalized linear models were used to identify intraoperative changes in large-scale connectivity associated with seizure outcomes. RESULTS: Twelve patients underwent MRgLITT for HH, five of whom were seizure-free at their last follow-up. Intraprocedural changes in thalamocortical circuitry involving the anterior cingulate cortex were associated with seizure-freedom. Children who were seizure-free demonstrated an increase and decrease in connectivity to the pregenual and dorsal anterior cingulate cortices, respectively. In addition, children who became seizure-free demonstrated increased thalamic connectivity to the periaqueductal gray immediately following MRgLITT. DISCUSSION: Successful disconnection of HH is associated with intraoperative, large-scale changes in thalamocortical connectivity. These changes provide novel insights into the large-scale basis of gelastic seizures and may represent intraoperative biomarkers of treatment success.

Hypothalamic Hamartoma related epilepsy: A systematic review exploring clinical, neuropsychological, and psychiatric outcome after surgery.

The post-surgical outcome for Hypothalamic Hamartoma (HH) related epilepsy in terms of seizure freedom (SF) has been extensively studied, while cognitive and psychiatric outcome has been less frequently reported and defined. This is a systematic review of English language papers, analyzing the post-surgical outcome in series of patients with HH-related epilepsy (≥5 patients, at least 6 months follow-up), published within January 2002-December 2022. SF was measured using Engel scale/equivalent scales. We looked at the outcome related to different surgical techniques, and HH types according to Delalande classification. We evaluated the neuropsychological and neuropsychiatric status after surgery, and the occurrence of post-surgical complications. Forty-six articles reporting 1318 patients were included, of which ten pediatric series. SF was reported in 686/1222 patients (56,1%). Delalande classification was reported in 663 patients from 24 studies, of which 70 were type I HH (10%), 320 were type II HH (48%), 189 were type III HH (29%) and 84 were type IV HH (13%). The outcome in term of SF was reported in 243 out of 663 patients. SF was reported in 12 of 24 type I HH (50%), 80 of 132 type II HH (60,6%), 32 of 59 type III HH (54,2%) and 12 of 28 type IV HH (42,9%). SF was reached in 129/262 (49,2%) after microsurgery, 102/199 (51,3%) after endoscopic surgery, 46/114 (40,6%) after gamma knife surgery, 245/353 (69,4%) after radiofrequency thermocoagulation, and 107/152 (70,4%) after MRI-guided laser interstitial thermal therapy. Hyperphagia/weight gain were the most reported surgical complications. Others were electrolyte alterations, diabetes insipidus, hypotiroidism, transient hyperthermia/poikilothermia. The highest percentage of memory deficits was reported after microsurgery, while hemiparesis and cranial nerves palsy were reported after microsurgery or endoscopic surgery. Thirty studies reported developmental delay/intellectual disability in 424/819 (51,7%) patients. 248/346 patients obtained a global improvement (72%), 70/346 were stable (20%), 28/346 got worse (8%). 22 studies reported psychiatric disorders in 257/465 patients (55,3%). 78/98 patients improved (80%), 13/98 remained stable (13%), 7/98 got worse (7%). Most of the patients had non-structured cognitive/psychiatric assessments. Based on the available data, the surgical management in patients with HH related epilepsy should be individualized, aiming to reach not only the best epilepsy result, but also the optimal cognitive and psychiatric outcome.

Spontaneous Resolution of a Combined Hamartoma in a One-Year-Old Child.

The combined hamartoma of the retina and the retinal pigment epithelium (CHR-RPE) is a rare but histologically benign tumor of which no clear consensus exists regarding its appropriate management. Most commonly CHR-RPE presents unilaterally in children as an elevated, pigmented lesion associated with vascular tortuosity and an epiretinal membrane (ERM). Patients may have decreased visual acuity (VA) in the affected eye, notably if the overlying ERM extends into the macula. For this reason, surgical intervention in the form of ERM removal has been pursued with notable success. Still, those who pursue observation cite the interwoven nature of the overlying glial membrane within the dysplastic retina, complicating surgery and accounting for variability in post-operative VA success. Given the rarity of the tumor coupled with the scarcity of data on its natural evolution, clinicians who pursue observation cannot know for sure whether withholding surgical management is predisposing their patients to worse visual outcomes as compared to those patients who undergo ERM peel as first-line therapy. This case report will discuss an infant with clinically diagnosed CHR-RPE whose lesion showed significant regression after 6 months of observation. This success story should cause ophthalmologists to reconsider the management options at their disposal when faced with a case of CHR-RPE, and to call for further research to better define the risks of observation over surgical intervention. [Ophthalmic Surg Lasers Imaging Retina 2024;55:471-473.].