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Renal epithelioid angiomyolipoma (EAML) (epithelioid PEComa of the kidney), is a rare subtype of renal angiomyolipoma with the potential for aggressive behavior and a known diagnostically challenging entity. We present a renal EAML with unusual papillary architecture and tumor cells with abundant eosinophilic cytoplasm and cherry-red nucleoli with perinucleolar halos, strongly mimicking a fumarate hydratase (FH) deficient renal cell carcinoma (RCC). We herein report our findings and discuss the morphologic, immunohistochemical, and molecular pitfalls to consider in the differential of EAML, including with FH-deficient RCC and more recently described entities: TFEB-amplified RCC and other renal tumors with alterations in TSC1/2. Novel findings in this tumor include papillary morphology and a novel telomerase reverse transcriptase promoter rearrangement, which has not been previously reported in EAML.

Background: MR-guided stereotaxy has emerged as a viable alternative to CT-guided frame-based or frameless approaches. By offering direct MR-guided navigation, this technique addresses most limitations inherent to CT navigation, enabling submillimeter precision. Method: We detail the workflow of using the ClearPoint® MR navigation system for laser catheter placement in the treatment of a hypothalamic hamartoma. Conclusion: MR-guided navigation is a precise and effective stereotactic method for laser ablation of targets with high demands for accuracy. However, compared to standard stereotactic techniques, MR-guided navigation is more time-consuming and costly. [ABSTRACT FROM AUTHOR]

ABSTRACT Cutaneous neurocristic hamartoma (CNH) is a rare lesion composed of neural crest derivatives, thought to arise from aberrant migration and differentiation of neural crest cells. Recognition of CNH may be difficult, as they may resemble giant congenital nevus, and development of proliferative nodules (PNs) may raise concern for malignant transformation. Assessment of gene expression in CNH and PNs derived from CNH may offer insight into pathogenesis and suggest clinically useful biomarkers to identify these entities. This study investigates gene expression patterns in a congenital CNH and three separate PNs derived from that CNH with giant congenital nevus and malignant melanoma as comparator groups. Comparison of PN to CNH demonstrates downregulation of WIF1, which encodes as a tumor suppressor, and loss of WIF1 expression might explain the progression from CNH to PN. Comparison of gene expression in PN and CNH with giant congenital nevus and malignant melanoma shows relative overexpression of IGF2 and H19 in CNH and PN, suggesting that abnormal imprinting and IGF2 overexpression may have integral functions in the foundation of CNH. [ABSTRACT FROM AUTHOR]

Hamartomas, as non-true tumors, are commonly found in the lungs, digestive tract, and kidneys, and there are few clinical reports on nasal cases. Nasal histiocytosis accompanied by lymphatic lesions is a common feature of nasal hamartoma. Three patients with nasal cavity hamartoma were treated in our department, including 1 male and 2 females, with nasal obstruction or epistaxis. The imaging (computed tomography, magnetic resonance imaging) of 2 patients showed a soft tissue mass in the nasal cavity and no erosion of bone, while in 1 patient, the imaging was inconclusive. The excised material in all patients was found to be a soft mass. The 3 cases showed the same pattern under histological examination, and all 3 patients were diagnosed with nasal cavity respiratory epithelial adenomatoid hamartoma (REAH). Nasal hamartoma is a rare disease with nonspecific clinical manifestations and imaging features and is often misdiagnosed. Only by a better understanding of this disease can the rate of correct clinical diagnosis be improved. [ABSTRACT FROM AUTHOR]

This article discusses a case study of a young female patient with a painful mass in the quadriceps compartment. The diagnosis was fibro-adipose vascular anomaly (FAVA), a rare condition characterized by intramuscular replacement with fibro-fatty tissue, complex vascular malformation, venous thrombosis, and lymphatic involvement. The article presents various imaging findings, including radiographs, ultrasounds, MRIs, and CT scans, to support the diagnosis. The treatment options for FAVA include surgical removal, minimally invasive ablative procedures, and the use of sirolimus. The article emphasizes the importance of collaboration among specialists in diagnosing and managing FAVA. [Extracted from the article]

BackgroundCase PresentationConclusionNeurofibromatosis type-2-related schwannomatosis (NF2-SWN, formerly neurofibromatosis type 2) is a rare genetic disorder marked by the development of multiple nervous system tumors.We report a 21-month-old female patient who presented for left eye deviation. Upon examination, intermittent exotropia and a fundus mass were detected. Wide field fundus examination revealed the presence of a combined hamartoma involving the optic nerve and retina. This finding was supported by MRI highlighting the lesion’s characteristics. The patient’s father and other relatives on the paternal side displayed symptoms of NF2-SWN, evident through the presence of acoustic neuroma, although they did not exhibit any ocular symptoms. DNA analysis revealed a novel loss-of-function mutation in exon 15 of the NF2 gene (NM_000268.3: c.1627_1628del, p.Lys543Aspfs *21) in both the patient and her father at a heterozygous state. By the age of three, her vision worsened, and optical coherence tomography showed vitreomacular traction and intraretinal fluid surrounding the lesion.This case underscores the need to consider NF2- SWN in peripapillary hamartoma diagnoses and highlights the importance of genetic testing for early detection and management. [ABSTRACT FROM AUTHOR]

The article discusses a case of a seven-month-old female child with a congenital mandibular appendicular nodule and a cervical/submandibular mass. The diagnosis was determined to be partial diprosopus with developmental cystic formation, a rare condition characterized by duplication of facial structures. Surgical intervention was performed to excise the accessory mouth and jaw, as well as the cystic lesion, with postoperative follow-up showing no complications. The family is receiving genetic counseling for future pregnancies, and the patient's growth and development are being closely monitored. [Extracted from the article]

Purpose: Mesenchymal neoplasms composed of vascular, smooth muscle, and adipocytic components are uncommon in the nasal cavity. While angioleiomyoma (AL) is a smooth muscle tumor in the Head & Neck WHO classification, it is considered of pericytic origin in the Skin as well as Soft Tissue and Bone classifications. For nasal AL with an adipocytic component, the terms AL with adipocytic differentiation and angiomyolipoma (AML) have been applied, among others. AML is a type of perivascular epithelioid cell tumor (PEComa), most often arising in the kidney, sometimes associated with the tuberous sclerosis complex (TSC). It is uncertain whether nasal cavity AML and AL are best considered hamartomas or neoplasms, as their genetics are largely unexplored. Methods: We performed a multi-institutional retrospective study of nasal cavity mesenchymal lesions. Patient demographics, clinical histories, and histologic and immunohistochemical findings were collected. DNA and RNA were extracted from formalin-fixed, paraffin-embedded tissue and analyzed by SNP-based chromosomal microarray, targeted RNA fusion sequencing, and whole-exome sequencing. Results: Fifteen lesions (3–42 mm) were identified, predominantly in male (87%) patients with a median age of 60. Patients typically presented with obstructive symptoms, and none had a history of TSC. One AL was a recurrence from six years prior; 11 cases showed no recurrence (median 4.7 years, range: 0.88–12.4). Morphologically, 11 AML contained 30–80% smooth muscle, 10–25% vasculature, and 2–60% adipose tissue, while four AL contained 70–80% smooth muscle and 20–30% vasculature. Other histologic observations included ulceration, thrombosis, inflammation, myxoid change, senescent nuclei, and extramedullary hematopoiesis; no well-developed epithelioid cell morphology was identified. Immunohistochemically, all cases were positive for smooth muscle markers (actin, desmin, and/or caldesmon) and negative for melanocytic markers. Molecular analysis revealed loss of 3p and 11q in a single AML. No other known pathogenic copy number or molecular alterations were seen, including in TSC1/2, TFE3, or NOTCH2. Conclusion: Nasal cavity AML lacks morphologic, immunophenotypic, and genetic features of PEComa family AML. The significant histologic overlap between nasal AML and AL without distinguishing molecular features in either entity suggests "sinonasal angioleiomyoma with adipocytic differentiation" may be the most appropriate terminology for hybrid vascular and smooth muscle lesions containing adipocytic components. [ABSTRACT FROM AUTHOR]

The article discusses a rare skin condition called papular epidermal naevus with 'skyline' basal cell layer (PENS). The authors describe five patients with PENS who had a specific genetic mutation called mosaic EGFR exon 20 in-frame insertion. This mutation was found in skin biopsy samples but not in blood samples, suggesting that it may be a somatic mutation. The authors also note that PENS may be associated with other neurological disorders. The findings suggest that the EGFR exon 20 in-frame insertion mutation could be a specific genetic marker for PENS. [Extracted from the article]

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. [ABSTRACT FROM AUTHOR]

Tuberous sclerosis complex (TSC) is a rare autosomal dominant disorder caused by mutations in the TSC1 or TSC2 gene. The aim of this study was to analyze the genotypes and phenotypes of Korean patients diagnosed with TSC and expand our understanding of this disorder. This retrospective observational study included 331 patients clinically diagnosed with TSC between November 1990 and April 2023 at Severance Children's Hospital, Seoul, South Korea. The demographic and clinical characteristics of the patients were investigated. Thirty novel variants were identified. Of the 331 patients, 188 underwent genetic testing, and genotype-phenotype variation was analyzed according to the type of gene mutation and functional domain. Fourty-nine patients (49/188, 26%) were had TSC1 mutations, 103 (55%) had TSC2 mutations, and 36 (19%) had no mutation identified (NMI). Hotspots were identified in exons 8 of TSC1 and exons 35 and 41 of TSC2. Patients with TSC2 mutations exhibited a significantly younger age at the time of seizure onset and had refractory epilepsy. Infantile epileptic spasms syndrome (IESS) was more common in the middle mutation domain of TSC2 than in the hamartin domain. Additionally, retinal hamartoma, cardiac rhabdomyoma, and renal abnormalities were significantly associated with TSC2 compared with other gene types. This study contributes to our understanding of TSC by expanding the genotypic spectrum with novel variants and providing insights into the clinical spectrum of patients with TSC in Korea. [ABSTRACT FROM AUTHOR]

Background: Pancreatic hamartoma, a rare benign non-neoplastic condition, presents challenges in differentiating from other pancreatic diseases due to its atypical imaging and unreliable biopsy results. In this study, we present a case of pancreatic hamartoma and conduct a comprehensive review of relevant literature to outline its characteristic features, aiming to underscore its clinical relevance and implications. Case presentation: A 63-year-old man presented with a pancreatic mass, discovered during evaluation of abdominal pain and distension. Laboratory tests were largely unremarkable. Ultrasound revealed a hypoechoic mass in the head of the pancreas. Subsequent computed tomography and magnetic resonance imaging demonstrated an inhomogeneous mass with a clear boundary in the uncinate process of the pancreas. Furthermore, a distinct delayed enhancement pattern was noted on imaging. Histopathological examination confirmed the diagnosis of pancreatic hamartoma. Conclusions: Preoperative diagnosis of pancreatic hamartoma remains challenging. Imaging modalities can play a crucial role in facilitating accurate diagnosis and potentially avoiding unnecessary surgical intervention in patients with this condition. [ABSTRACT FROM AUTHOR]

Epidermal nevi are common benign cutaneous hamartomas that may rarely demonstrate histopathologic evidence of epidermolytic hyperkeratosis (EHK), representing cutaneous mosaicism for pathogenic keratin variants. Rarely, individuals with linear epidermal nevi transmit to their children the inherited form of EHK, also known as epidermolytic ichthyosis, characterized by generalized erythema, blistering, and scaling at birth evolving to widespread hyperkeratosis. We present an updated review of reported cases of linear epidermal nevi with EHK exhibiting transmission of epidermolytic ichthyosis to guide important considerations in the care of individuals with epidermal nevi. Clinical characteristics of linear epidermal nevi do not reliably predict the presence of EHK. All reported cases of transmission to offspring have occurred in individuals with linear epidermal nevi involving more than one anatomic area suggesting increased reproductive risk with involvement of two or more anatomic sites. Therefore, genetics consultation is recommended for these individuals with biopsy‐confirmed EHK. For individuals with smaller areas of epidermal nevus involvement, the implications are less well known, though genetics consultation may still be considered for those interested in further discussion of general reproductive risk. [ABSTRACT FROM AUTHOR]

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. A detailed retrospective chart review and literature search were performed using Pubmed and Embase. 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. 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. [ABSTRACT FROM AUTHOR]

Lhermitte-Duclos Disease (LDD) is a rare condition characterized by a cerebellar mass composed of dysplastic ganglion cells. It is classified as a glioneuronal and neuronal tumor. The exact nature of LDD is still unclear, with debate over whether it is hamartomatous or neoplastic in nature. LDD is associated with Cowden syndrome (CS), a rare genetic disorder that increases the risk of certain cancers. The activation of the PTEN/AKT/mTOR pathway is believed to play a role in the pathogenesis of LDD. Diagnosis of LDD may prompt further screening for CS and associated malignancies. Surgical resection is the main treatment for LDD, and long-term follow-up is important for early detection of associated malignancies. [Extracted from the article]

Angiomyomatous hamartoma (AMH) is a rare benign lesion of the lymph nodes. Angiomyomatous hamartoma tends to be found in inguinal lymph nodes, and usually in a single lymph node. We present a rare care case of a 53-year-old presenting with a neck lump, found to be AMH involving multiple lymph nodes in her neck. To our knowledge, this is the first case presenting with multiple nodes in this location. There are a limited number of case reports describing magnetic resonance imaging (MRI) features of AMH lesions located in inguinal and head and neck regions. Our MRI findings revealed the mass had intermediate T1 enhancement, high T2 signal enhancement, and high post-gadolinium enhancement and fat saturation of the lesion. Angiomyomatous hamartoma is a histological diagnosis, distinguished from other similar nodal vascular lesions by a number of key features: including the presence of central nodal distribution, muscular blood vessel walls, adipose tissue, and HMB45 negative staining. Early recognition of this benign lesion may have implications for a patient's clinical course and surgical requirements. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

This case report demonstrates a rare finding of a pediatric patient with Morning Glory anomaly and Moyamoya Disease with a palatal meningeal hamartoma discovered as a mass within a previously repaired incomplete cleft of the alveolus. Oral meningeal hamartomas are exceedingly rare with only two palatal cases described and none within a cleft palate or alveolus. These findings prompt a review of oral hamartomas with meningeal subclassification. Further discussion describes the relationship of the proposed origins of meningeal hamartomas within the setting of cleft palate development. [ABSTRACT FROM AUTHOR]

Tuberous sclerosis complex is a multisystem genetic disease with autosomal dominant inheritance, characterized by the development of benign tumors known as hamartomas that affect multiple organs. It is a condition with a wide phenotypic spectrum, and its clinical presentation varies over time within the same individual. Hence, the importance of early screening and rigorous monitoring of evolving clinical manifestations. Diagnosis can occur at any age. These tumors are generally benign, but their size and location can have a significant impact on the prognosis and, in some cases, even on life expectancy. Cardiac, neurological, and cutaneous manifestations are most common in childhood. The onset of early and severe epilepsy within the first year of life is associated with neurodevelopmental disorders that impact the quality of life for affected individuals and their families. We present a case of a 22-year-old female patient experiencing inaugural epileptic seizures in adulthood, with magnetic resonance imaging revealing subependymal hamartomas, cortical tubers and radial migration bands accompanied by polycystic kidney disease; the diagnosis of tuberous sclerosis complex was established based on the association of these lesions, which constitute major and minor criteria.

Trichofolliculoma is a rare benign, hamartomatous adnexal tumour of the skin. Aetiology seems to be unclear. It is usually seen in adults, with no gender predilection. The most commonly involved sites are the face and scalp. It appears as a papule or nodule with small protruding hairs, which is a classic feature of the tumour. It has unique diagnostic and histopathological features that help in making a definitive diagnosis. Here, we report an exemplary case of an adult male patient aged 45 years with a gradual progressive diffuse swelling on the left side of the face for 1.5 years. Clinically, it was diagnosed as a sebaceous cyst, but after the biopsy histopathological evaluation was performed, and the diagnosis was confirmed as trichofolliculoma.

AbstractRespiratory epithelial adenomatoid hamartoma (REAH) is a relatively rare disease that commonly occurs in the olfactory cleft, followed by the posterior nasal septum within the nasal cavity. We herein report a case of REAH on the nasal floor, which is an extremely rare anatomical site for the occurrence of REAH. A 63-year-old man was referred to our department because he had developed right epistaxis. Endoscopic examination revealed a protruding lesion on the floor of the right nasal cavity. The tumor was endoscopically removed and histopathological examination revealed that the tissue was characterized by proliferation of glandular duct structures composed of multiciliated cells and glandular cells, consistent with isolated REAH. No evidence of recurrence was observed endoscopically 14 months after surgery. The findings indicate that REAH can occur in the nasal cavity at sites covered by the respiratory mucosa that have not been previously reported and should be treated with caution.

Background: Non-hypothalamic glioneural hamartomas are rare entities known to cause medically refractory epilepsy. Olfactory bulb hamartomas, in particular, are exceptionally rare. Methods: We describe a case of an olfactory bulb hamartoma that was surgically resected at our institution. We also performed a literature review of all glioneural hamartomas and discuss the clinical presentation, diagnosis, and management of these lesions. Results: Herein, we present the unusual case of a typically developing 17-year-old boy with a near life-long history of drug-resistant epilepsy, found to have a 0.8 × 1.0 cm right olfactory bulb hamartoma. Endoscopic endonasal trans-cribriform resection of the lesion led to seizure freedom in the 6-month follow-up period (Engel class 1 outcome). Comprehensive literature review revealed only one other sporadic case, which was also successfully treated with total surgical resection. Conclusions: Our case of an olfactory bulb hamartoma adds to the limited literature currently available, illustrating key clinical characteristics of these exceedingly rare lesions and outlining an effective, minimally invasive, and low-morbidity treatment strategy. [ABSTRACT FROM AUTHOR]

The entity commonly referred to as chondrolipoma is a rare and enigmatic breast lesion with unclear histogenesis and a complete lack of molecular characterization. It is uncertain whether it represents a hamartoma, choristoma, or a distinct neoplasm, including possibly a variant of mammary-type myofibroblastoma. We report two additional chondrolipomatous lesions of the breast. The lesions had varying histologic and immunohistochemical features similar to myofibroblastoma, including the loss of retinoblastoma (Rb) protein expression in one lesion. Molecular analysis by chromosomal microarray analysis performed on a second lesion did not demonstrate a loss of 13q14 or 16q typical of myofibroblastoma. Our findings further support the concept that at least a subset of breast lesions that historically have been classified as chondrolipoma are related to myofibroblastoma. However, the lack of myofibroblastoma-specific molecular alterations in one lesion suggests chondrolipomas may also have varying origins. [ABSTRACT FROM AUTHOR]

Most of the pulmonary endobronchial lesions are malignant in origin. In rare instances, benign lesions such as endobronchial hamartoma may be the cause of the endobronchial tree obstruction. We present the case of a 57-year-old male patient from North Africa who presents with a history of a 5-month cough. Imaging, particulary CT scan, showed a mass on the right intermediate bronchus whose radiological characteristics are consistent with hamartoma. A biopsy of the mass obtained via bronchoscopy revealed chronic inflammation with no evidence for malignancy. The patient was treated surgically, and anatomopathology confirmed the diagnosis of hamartoma.

Complex sclerosing lesion (CSL)/radial scar of breast is a benign entity that can pose a diagnostic challenge due to resemblance to breast carcinoma on imaging. Hamartoma are uncommon benign tumors, composed of disorganized mixture of glandular, fibrous, and adipose tissues, which can exhibit classical imaging characteristics. Here we describe a case of concomitant CSL and hamartoma in left beast, of which CSL presented as suspicious mass on imaging but was ultimately confirmed to be benign on histopathology with 4 years of documented stability.

A hamartoma is a benign tumor that arises from the disorganized proliferation of tissue and can occur anywhere in the body. Hamartomas are notably found in the lung, skin, heart, brain, and breast, while their occurrence in the head and neck is rare. We describe a case involving a 17-year-old male patient who presented with a mass in a unilateral palatine tonsil, discovered incidentally. The patient was treated with tonsillectomy and, after pathological review, was diagnosed with a hamartomatous polyp of the palatine tonsil. Our case report highlights this rare benign neoplasm and presents a review of the literature.

Pulmonary hamartomas are the most common benign tumors of the lung in adults. They are usually asymptomatic because of their small size and their slow-growing character. We report the case of a 5-year-old child presenting with a giant lung mass causing recurrent right pneumonia. Surgical resection with middle lobectomy was performed. Final histology revealed pulmonary hamartoma with predominant adenofibromatous and lipomatous differentiation.

Background and aims: PKC‐fused blue naevi are a recently described group of melanocytic tumours that have distinctive morphological features, including a pigmented epithelioid melanocytoma‐like junctional component or a dermal biphasic architecture associating with naevocytoid nests surrounded by dendritic and spindled pigmented melanocytes (so‐called 'combined common and blue naevus'). There have been reports of smooth muscle hyperplasia in a hamartoma‐like pattern in cases of combined blue naevi without genetic exploration. Materials and methods: Herein, we describe 12 cases of protein kinase C (PKC)‐fused blue tumours associated with a co‐existing smooth muscle hyperplasia, identified from a total of 98 PKC‐fused melanocytic tumours. Archived slides of PKC‐fused blue naevi with haematoxylin, eosin and phloxin staining, immunohistochemistry and molecular confirmation of a PKC‐fusion by fluorescence in‐situ hybridisation (FISH) or RNAseq were re‐evaluated for identification of notable smooth muscle hyperplasia. Fifty‐one of these slides had already been studied in a previous publication from our group. Results: The hyperplasia ranged from hypertrophic arrector pili muscles to extensive horizontal bundles of disorganised fibres constantly associated and limited within a biphasic dermal melanocytic component. At least one arrector pili muscle was always visible within the tumour, with occasionally direct extension of the hyperplastic fibres from the main muscle body. These muscle fibres were devoid of a PKC‐fusion signal by FISH. PKC molecules are involved in the regulation of smooth muscle function, offering an explanatory framework. Conclusions: These data suggest incorporating smooth muscle hyperplasia as a diagnostic morphological feature of PKC‐fused blue melanocytic tumours. [ABSTRACT FROM AUTHOR]

Objective: This study was undertaken to estimate incidence of rare epilepsies and compare with literature. Methods: We used electronic health record text search to identify children with 28 rare epilepsies in New York City (2010–2014). We estimated cumulative incidence and compared with literature. Results: Eight of 28 rare epilepsies had five or more prior estimates, and our measurements were within the published range for all. The most common were infantile epileptic spasms syndrome (1 in 2920 live births), Lennox–Gastaut syndrome (1 in 9690), and seizures associated with tuberous sclerosis complex (1 in 14 300). Fifteen of 28 had fewer than five prior estimates, and of these, we provided additional estimates for early infantile developmental and epileptic encephalopathy (1 in 32 700), epilepsy with myoclonic–atonic seizures (1 in 34 100), Sturge–Weber syndrome plus seizures/epilepsy (1 in 40 900), epilepsy in infancy with migrating focal seizures (1 in 54 500), Aicardi syndrome plus seizures/epilepsy (1 in 71 600), hypothalamic hamartoma with seizures (1 in 225 000), and Rasmussen syndrome (1 in 450 000). Five of 28 rare epilepsies had no prior estimates, and of these, we provided a new estimate for developmental/epileptic encephalopathy with spike‐and‐wave activation in sleep and/or continuous spikes and waves during sleep (1 in 34 100). Data were limited for the remaining 12 rare epilepsies, which were all genetic epilepsies, including PCDH19, CDKL5, Alpers disease, SCN8A, KCNQ2, SCN2A, GLUT1 deficiency, Phelan‐McDermid syndrome, myoclonic epilepsy with ragged‐red fibers, dup15q syndrome, ring chromosome 14, and ring chromosome 20. Significance: We estimated the incidence of rare epilepsies using population‐based electronic health record data and literature review. More research is needed to better estimate the incidence of genetic epilepsies with nonspecific clinical features. Electronic health records may be a valuable data source for studying rare epilepsies and other rare diseases, particularly as genetic testing becomes more widely adopted. [ABSTRACT FROM AUTHOR]

Congenital infiltrating lipomatosis of the face (CILF) is a rare congenital disease of the head and neck region. In this study, the cases of 20 patients diagnosed with CILF were reviewed retrospectively to analyse the characteristics of the disease. The symptoms, signs, and clinical progression were investigated. Radiological changes were analysed according to the distribution of the trigeminal nerve. The pathological features of the fatty facial lesions, jaw hyperplasia, and lingual lesions were further identified. All 20 patients demonstrated hemifacial hypertrophy at birth. None had a family history of the disease. Significant radiological features of CILF (prevalence ≥90%) included thickened buccal subcutaneous fat, palatal submucosal fat, and temporal subcutaneous fat, maxillary tuberosity heteroplasia, and fatty infiltration of the masseteric intermuscular space. With regard to the trigeminal nerve, the frontal branch region (CNV1) was rarely affected, while the maxillary (CNV2) and mandibular (CNV3) branch regions showed considerable changes. Pathologically, CILF was observed to be characterized by the infiltration of mature adipose tissue into the adjacent buccal soft tissue, osteal remodelling surrounded by sheets of mature lipocytes and supporting fibrovascular stroma, and lingual hamartoma. In summary, CILF exhibits distinct characteristics that are related to the regions controlled by the maxillary and mandibular branches of the trigeminal nerve, suggesting that CILF may be associated with early neural development. [ABSTRACT FROM AUTHOR]

Endobronchial hamartoma is a benign mesenchymal tumor. It contains fat, cartilage and even bone tissue. It can be asymptomatic or cause respiratory symptoms such as cough and pneumonias. We report a case of a 68-year-old male who suffered from cough for the last four years. During this period of time, he was treated with different therapeutic approaches, including antibiotics, inhaled corticosteroids, pregabaline and bronchodilators, without clinical improvement. Allergic and gastrointestinal diseases were excluded. Pulmonary function tests were all normal. His symptoms had been attributed to anxiety disorder as psychogenic cough. However, a chest computed tomography (CT) was never conducted. Chest CT and bronchoscopy revealed an endobronchial hamartoma. Its endoscopical removal led to impressive remission of symptoms. [ABSTRACT FROM AUTHOR]

This article explores the use of biologic therapies as potential treatments for cryptogenic multifocal ulcerous stenosing enteritis (CMUSE), a rare inflammatory bowel disease. The article presents a case report of a patient with CMUSE who was successfully treated with infliximab, a monoclonal TNF-α antibody, after failing to respond to glucocorticoid treatment. A literature review of similar cases treated with biologics showed a clinical response rate of 71.4%. The article emphasizes the need for larger studies to evaluate the benefits of biologics and determine the optimal treatment approach for CMUSE. It also highlights the challenges in diagnosing CMUSE and distinguishing it from other similar diseases. Overall, the article calls for increased awareness and further research on CMUSE and its treatment options. [Extracted from the article]

Central nervous system (CNS) dural arteriovenous fistulas (DAVF) have been reported in PTEN‐related hamartoma tumor syndrome (PHTS). However, PHTS‐associated DAVF remain an underexplored field of the PHTS clinical landscape. Here, we studied cases with a PTEN pathogenic variant identified between 2007 and 2020 in our laboratory (n = 58), and for whom brain imaging was available. Two patients had DAVF (2/58, 3.4%), both presenting at advanced stages: a 34‐year‐old man with a left lateral sinus DAVF at immediate risk of hemorrhage, and a 21‐year‐old woman with acute intracranial hypertension due to a torcular DAVF. Interestingly, not all patients had 3D TOF/MRA, the optimal sequences to detect DAVF. Early diagnosis of DAVF can be lifesaving, and is easier to treat compared to developed, proliferative, or complex lesions. As a result, one should consider brain MRI with 3D TOF/MRA in PHTS patients at genetic diagnosis, with subsequent surveillance on a case‐by‐case basis. [ABSTRACT FROM AUTHOR]

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. 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. 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. 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. [ABSTRACT FROM AUTHOR]

Nevus lipomatosus cutaneous superficialis (NLCS) is a rare benign cutaneous hamartoma that is poorly recognized and often misdiagnosed as a lipofibroma, cutaneous fibroma, infantile hemangioma, lymphangioma, or focal dermal hypoplasia. Histopathology is essential for diagnosis. We present the case of a 12-year-old girl with multiple asymptomatic lesions on the right buttock, which progressively enlarged. Early correct diagnosis and adequate therapeutic interventions are essential to minimize the esthetic impact of NLCS. [ABSTRACT FROM AUTHOR]

Introduction and aim. The most common benign tumor of the lung is hamartoma. In many cases, it is a spherical tumor, located peripherally, often without clinical symptoms. Predominantly it is found accidentally during radiological examination. In some cases the tumor reaches a significant size in the lung parenchyma or in the lumen of the bronchi or trachea. Then, symptoms such as cough, dyspnea, wheezing, less commonly hemoptysis, and chest pain may occur. In addition, tumors located endobronchial or endotracheal may cause recurrent pneumonia or mimic obstructive diseases of the lower respiratory tract such as chronic obstructive pulmonary disease, or bronchial asthma. We present the case of a patient with an endotracheal tumor mimicking bronchial asthma. Description of the case. A 53-year-old male was taking bronchodilators and inhaled steroids for several months. The baseline chest radiograph showed no abnormalities. Spirometry suggested an obstruction of respiratory flow in the central or upper airways. The lack of improvement after asthma treatment required an extension of the diagnosis. Computed tomography allowed accurate visualization of the tumor lesion of the trachea, which was significantly obstructing its lumen, and resection was carried out. Conclusion. Our case demonstrates that tracheal tumors can present symptoms similar to respiratory tract diseases. In unresolved cases, spirometry and computed tomography are helpful in proper diagnosis. [ABSTRACT FROM AUTHOR]

(1) Objective: Lung cancer is one of the leading causes of cancer death among men and women across the globe. The accurate and timely diagnosis of lung lesions is of paramount importance for prognosis. This single-center study is the first to assess the diagnostic yield and complication rate of a computed tomography (CT)-guided needle biopsy of pulmonary parenchymal and pleural nodules in an academic training center in the United States. (2) Methods: This is a retrospective study approved by IRB. Patients who underwent CT-guided needle biopsy between 2016 and 2020 were reviewed. A CT-guided needle biopsy involving mediastinal lesions was excluded, focusing only on lung parenchymal and pleural lesions. A CT-guided needle biopsy aborted at any point during the procedure was also excluded from this study. (3) Results: 1063 patients were included in this study; 532 were males, and 531 were females. Lesion size ranged from 0.26 cm to 9.2 cm. 1040 patients received diagnoses, among which 772 had a specific diagnosis, and 268 had nonspecific inflammatory or non-malignant diagnoses. Twenty-three cases were non-diagnostic. Among the patients with specific diagnoses, 691 were malignant, 5 were hamartomas, 30 were fungal infections, 6 were acid-fast-positive organisms, and 40 were unspecified atypical cells. Of the patients that had a malignant diagnosis, 317 were adenocarcinoma, 197 were squamous cell carcinoma, 26 were a neuroendocrine tumor, 45 were non-small cell carcinoma (undifferentiated), 17 were small cell carcinoma, and 89 were other metastatic malignancies to the lung. Various common complications, including pneumothorax (337), hemorrhage (128), and hemoptysis (17), were observed, and 42 of the cases required chest tube intervention; others were treated with observation. Other rare complications observed included hemothorax (4) and oxygen desaturation (2), and there was no death in this series. (4) Conclusions: CT-guided needle biopsy is a reliable diagnostic modality for patients with lung parenchymal and pleural nodules, and it can effectively distinguish between benign and cancerous lesions before invasive procedures such as video-assisted thoracoscopy (VATs) or thoracotomy are planned. Our study showed a higher rate of pneumothorax and pulmonary hemorrhage compared to the rates established in guidelines, attributable to the varying experience level in a busy training academic center. [ABSTRACT FROM AUTHOR]

A hamartoma is a benign proliferation of typical mature cells specific to a particular anatomical site. In the oral cavity, they may occur as isolated cases or be associated with genetic syndromes. Oral‐facial‐digital syndrome type VI is a rare genetic disorder with an estimated incidence of one in 50,000–250,000 newborns. Here, we report a case of a 2‐year‐old boy diagnosed with oral‐facial‐digital syndrome type VI who was referred for evaluation of a bilateral and normochromic to slightly pinkish nodule on the lateral surface of the tongue. Clinically, the child presented hypotonia, low visual acuity, absence of oculocephalic reflex, delay in neuropsychomotor development, and polydactyly in the feet. Excisional biopsies of both sides of the tongue were performed using a 1.5 W high‐power diode laser (wavelength of 980 nm), and histopathological analysis revealed abundant mature adipocytes predominantly arranged in lobules that mainly surrounded the minor salivary gland parenchyma. The surgical sites healed with no complications and the patient remains under follow‐up for 10 months. Due to the limited literature on this syndrome and the frequent presence of tongue hamartomas in children, dentists need to be familiar with them. [ABSTRACT FROM AUTHOR]

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. [ABSTRACT FROM AUTHOR]

Vascular hamartomas represent a focal proliferation of disorganized vascular tissue, which is usually present at birth. An 8-month-old Scottish fold female cat presented with abdominal distention, mild dyspnea, pale mucous membranes, and lethargy. Ultrasound examination revealed a hepatic mass resembling multiple cysts affecting the right medial lobe. Surgical excision was performed, and tissue samples were sent for histopathological evaluation. The mass was composed of multiple, dilated, variably-sized well-differentiated arterioles and venules, consistent with vascular hamartoma. Immunohistochemical investigation of the cells lining the cystic structures showed positive immunolabeling for vimentin and negative immunolabeling for PanCK, supporting the histological diagnosis. Based on existing literature, this represents the first case of hepatic localization of vascular hamartoma in a cat. In addition, a comparative histological study between vascular hamartoma and biliary duct hamartoma and a review on hepatic vascular hamartomas in animals and hepatic cystic masses in cats was made. [ABSTRACT FROM AUTHOR]