Oral leiomyomatous hamartoma (OLH) is a rare lesion, with only 40 cases reported in the literature. It typically presents early in life as a nodule on the anterior maxillary alveolar tissues or the tongue. Its growth potential is limited, with few cases reaching dimensions >2.0 cm, and its microscopic composition includes an intact surface mucosa with an underlying fibrovascular stroma possessing an unencapsulated proliferation of smooth muscle fascicles. Excision is considered the definitive treatment. Here we describe the clinical, microscopic, histochemical, and immunohistochemical features and management of 3 cases of OLH and review the literature. The findings we present here can assist in performing differential diagnosis, particularly in discriminating between OLH and similar yet non-hamartomatous processes and in selecting appropriate management.
Hamartoma , Leiomyoma , Humans , Diagnosis, Differential , Hamartoma/diagnosis , Hamartoma/surgery , Tongue
Objective: To explore the clinical characteristics, pathological features, and diagnosis and treatment strategies of nasal chondromesenchymal hamartoma (NCMH) in infants and young children. Methods: A retrospective analysis was conducted on seven cases of NCMH infants and young children admitted to Beijing Children's Hospital, Capital Medical University from April 2015 to January 2022. The cohort included 5 males and 2 females, aged from 6 days to 2 years and 3 months. General information, clinical symptoms, imaging findings, treatment plans, postoperative complications, recurrence and follow-up time were collected, summarized and analyzed. Additionally, immunohistochemical characteristics of the lesion were examined. Results: The clinical symptoms of 7 children included nasal congestion, runny nose, open mouth breathing, snoring during sleep, difficulty feeding, and strabismus. All patients underwent electronic nasopharyngoscopy examination, with 5 cases of tumors located in the right nasal cavity and 2 cases in the left nasal cavity. No case of bilateral nasal cavity disease was found. All 7 patients underwent complete imaging examinations, with 5 patients underwent MRI and CT examinations, 1 patient underwent CT examination only, and 1 patient underwent MRI examination only. The CT results showed that all tumors were broad-based, with uneven density, multiple calcifications and bone remodeling, and some exhibited multiple cystic components. The MRI results showed that the tumor showed low signal on T1 weighted imaging and high or slightly high signal on T2 weighted imaging. All patients were diagnosed through histopathological examination and immunohistochemistry, including 7 cases of Ki-67 and SMA (+), 5 cases of S-100 and Vimentin (+), and all EMA and GFAP were negative. All patients underwent endoscopic resection surgery through the nasal approach, with 3 cases using navigation technology. Five cases of tumors were completely removed, and two cases of tumors were mostly removed. No nasal packing was performed after surgery, and no postoperative nasal, ocular, or intracranial complication occurred in all patients. Follow up assessments conducted 6 to 84 months post-surgery revealed no instances of tumor recurrence in any of the patients. Conclusions: The clinical symptoms of children with NCHM mainly depend on the size and location of the tumor. Nasal endoscopic surgery is the main treatment method. In cases where critical structures like the skull base or orbit are implicated, staged surgical interventions may be warranted. Long-term follow-up is strongly advised to monitor for any potential recurrence or complications.
Hamartoma , Nose Diseases , Male , Infant , Child , Female , Humans , Child, Preschool , Nasal Cartilages/pathology , Retrospective Studies , Neoplasm Recurrence, Local , Nose Diseases/diagnosis , Hamartoma/diagnosis , Hamartoma/surgery , Hamartoma/pathology
Objective: To explore the clinicopathological and molecular genetic features of adult hepatic mesenchymal hamartoma (MHL). Methods: A total of five confirmed adult MHL cases diagnosed at the Pathology Department of the First Medical Center of the People's Liberation Army General Hospital between 2009 and 2022 were collected. Histomorphological observation and immunohistochemical staining were conducted. Gene detection was performed by next-generation sequencing. Results: Among the five cases, four were male and one was female, aged 46-67 years, with an average age of 56.2 years. The maximum diameter was 5.3-13.5cm, and the average diameter was 9.2cm. Tumors were generally cystic, solid, or mixed cystic-solid. Histopathologically, in four out of five cases of MHL, malignant transformation occurred, of which three cases were malignantly transformed into undifferentiated embryonal sarcoma and one case was malignantly transformed into a malignant solitary fibrous tumor. NAB2-STAT6 gene rearrangements were identified. Conclusion: Adult MHL is a rare kind of tumor with malignant potential, and it is difficult to diagnose with preoperative imaging examinations. A fine-needle biopsy is rarely used for diagnosis, but surgical resection of symptomatic or enlarged lesions is recommended to rule out the possibility of malignancy and further diagnosis. Genetic testing results revealed the complex genetic alterations in MHL, and it was found that adult MHL can malignantly transform into malignant solitary fibrous tumors. We believe that genome-wide analysis is necessary to determine the unique molecular characteristics of MHL and identify potential targets for therapeutic intervention.
Hamartoma , Liver Neoplasms , Sarcoma , Adult , Humans , Male , Female , Middle Aged , Liver Neoplasms/pathology , Sarcoma/genetics , Sarcoma/pathology , Hamartoma/diagnosis , Hamartoma/pathology , Hamartoma/surgery , Mutation , Biomarkers, Tumor
The decision of whether to perform a large anatomic resection for a lung mass that is not definitely malignant comes often forward in the everyday practice of the thoracic surgeon. The general characteristics of the tumor as well as of the patient and the instinct and experience of the surgeon are the ones that dictate the final choice. Such a decision was made in the case of a large pulmonary hamartoma where a right middle lobectomy was performed with the postoperative course justifying the surgeons' choice.
Hamartoma , Lung Diseases , Lung Neoplasms , Humans , Lung Neoplasms/diagnosis , Lung Neoplasms/surgery , Lung Diseases/diagnosis , Lung Diseases/surgery , Lung/pathology , Hamartoma/diagnosis , Hamartoma/surgery , Hamartoma/pathology , Pneumonectomy
Brunner's gland hamartoma (BGH) is a rare, benign tumor of the duodenum. It is mostly asymptomatic and usually found incidentally on routine esophagogastroduodenoscopy (EGD). However, some BGHs present with major complications including anemia, bleeding, obstruction, or dysplasia, requiring management and resection of these lesions. Herein, we present two cases of large BGHs of the duodenum, one presenting as severe gastrointestinal bleeding and the other, noted on EGD for iron deficiency anemia, found to have high grade dysplasia. This literature review discusses the rare serious complications of BGH, including iron deficiency anemia, overt gastrointestinal bleeding, and malignant potential.
Anemia, Iron-Deficiency , Brunner Glands , Duodenal Diseases , Hamartoma , Humans , Brunner Glands/pathology , Duodenal Diseases/diagnosis , Duodenal Diseases/surgery , Duodenal Diseases/complications , Anemia, Iron-Deficiency/diagnosis , Anemia, Iron-Deficiency/etiology , Hamartoma/diagnosis , Hamartoma/surgery , Gastrointestinal Hemorrhage/etiology
OBJECTIVE: To describe the clinical presentation, novel surgical approach, and outcome of a dog diagnosed with chondro-osseous respiratory epithelial adenomatoid hamartoma (COREAH). ANIMAL: 5-year-old castrated male Yorkshire Terrier. CLINICAL PRESENTATION, PROGRESSION, AND PROCEDURES: The dog was presented with chronic upper respiratory noise, congestion, facial swelling, ocular discharge, and an abscess on the nasal bridge. Two CT scans were performed 4 months apart. The CT scans yielded similar results: cyst-like nasal masses with severely destructive bilateral rhinitis with extensive polyostotic bony lysis. A dorsal rhinotomy with a turbinectomy and debridement of the nasal cavity were performed. A poorly defined but extensive lesion was found occupying the entirety of the left frontal sinus as well as the nasal cavity. TREATMENT AND OUTCOME: Histopathology revealed a mass consistent with COREAH. The dog recovered well from surgery, except for self-limiting subcutaneous emphysema, and 3 weeks postoperatively was reportedly doing well, with mild nasal discharge. Stridor, nasal discharge, and sneezing episodes were reported postoperatively; however, these were improved. At 18 months postoperatively, the dog died from uncontrolled seizures while hospitalized for suspected acute hemorrhagic diarrhea syndrome at a different hospital. CLINICAL RELEVANCE: COREAH should be considered a potential cause of destructive bilateral rhinitis and bony lysis in dogs. Dorsal rhinotomy can be a surgical treatment for dogs with possible COREAH with acceptable outcome, though complete remission of clinical signs may not be achieved. This is the first clinical description of COREAH in a dog.
Adenoma , Dog Diseases , Hamartoma , Nose Neoplasms , Rhinitis , Dogs , Male , Animals , Nose/pathology , Nasal Cavity/pathology , Rhinitis/veterinary , Nose Neoplasms/veterinary , Adenoma/veterinary , Hamartoma/diagnosis , Hamartoma/surgery , Hamartoma/veterinary , Dog Diseases/diagnosis , Dog Diseases/surgery , Dog Diseases/pathology
The "breast within a breast" sign is used to describe the appearance of a breast hamartoma, also known as a fibroadenolipoma. A breast hamartoma is a benign mass made up of the same tissues that are found in a normal breast, giving the appearance of a breast within a breast on mammography. The "breast within a breast" sign is pathognomonic for a breast hamartoma and can help confidently diagnose these masses as benign without the need for further imaging or biopsy.
Breast Diseases , Breast Neoplasms , Hamartoma , Humans , Female , Breast/diagnostic imaging , Breast/pathology , Mammography , Breast Diseases/diagnostic imaging , Breast Diseases/pathology , Hamartoma/diagnosis , Biopsy , Breast Neoplasms/diagnostic imaging , Breast Neoplasms/pathology
Angiomyolipoma , Carcinoma, Renal Cell , Epidermal Cyst , Hamartoma , Kidney Neoplasms , Humans , Carcinoma, Renal Cell/diagnostic imaging , Carcinoma, Renal Cell/surgery , Angiomyolipoma/diagnostic imaging , Angiomyolipoma/surgery , Kidney Neoplasms/diagnostic imaging , Kidney Neoplasms/surgery , Hamartoma/diagnosis , Diagnostic Errors , Diagnosis, Differential
BACKGROUND: Congenital simple hamartoma of the retinal pigment epithelium is often identified as an incidental finding. One important issue is the differentiation of these benign lesions from other lesions which could be potentially sight-threatening. METHODS: This study describes 4 cases of congenital simple hamartoma of the retinal pigment epithelium that were referred to a university-based hospital. Multimodal imaging including fundus photo, multicolor fundus photo, fundus autofluorescence, optical coherence tomography (OCT), OCT angiography, fluorescein angiography and multifocal electroretinogram is provided. RESULTS: The first case is a young man with an incidental finding of this lesion. The second and third cases are diabetic patients with congenital simple hamartoma of the retinal pigment epithelium and diabetic macular edema and the fourth one is a case of congenital simple hamartoma of the retinal pigment epithelium with a full-thickness macular hole. CONCLUSIONS: Differentiation of congenital simple hamartoma of the retinal pigment epithelium from other potentially sight-threatening lesions is important. Multimodal imaging can be helpful regarding this issue. Besides typical findings described in the literature, unique features in our cases include concurrent diabetic macular edema and association with a full-thickness macular hole.
Diabetic Retinopathy , Hamartoma , Macular Edema , Retinal Diseases , Retinal Perforations , Male , Humans , Retinal Pigment Epithelium/pathology , Retinal Perforations/pathology , Retinal Diseases/diagnosis , Retinal Diseases/complications , Macular Edema/pathology , Diabetic Retinopathy/complications , Fluorescein Angiography , Hamartoma/diagnosis , Hamartoma/complications , Multimodal Imaging , Tomography, Optical Coherence/methods
Barber-Say syndrome (BSS) is a rare congenital ectodermal dysplasia with few cases reported in the literature. We describe a 9-year-old boy with congenital generalized hypertrichosis and multiple rhabdomyomatous mesenchymal hamartomas (RMHs) on his nose and periocular region. Next-generation sequencing, performed in DNA from a blood sample, and RMH tissue, revealed a pathogenic variant in the TWIST2 gene, which was not detected in a salivary sample of the patient, nor in his parents. Therefore, we consider this variant as de novo mosaicism. To our knowledge, this is the first case of multiple RMHs associated with BSS.
Abnormalities, Multiple , Eyelid Diseases , Hamartoma , Hypertelorism , Hypertrichosis , Macrostomia , Skin Abnormalities , Male , Humans , Child , Hypertrichosis/genetics , Hypertrichosis/congenital , Abnormalities, Multiple/genetics , Hirsutism/genetics , Hamartoma/complications , Hamartoma/diagnosis , Hamartoma/genetics
El hamartoma fibrolipomatoso precalcáneo congénito (HFPC) es una entidad benigna e infrecuente caracterizada por la aparición, al nacimiento o meses después, de nódulos de tejido adiposo, simétricos y asintomáticos en las plantas de los pies. Cursa con una evolución favorable, con un crecimiento acorde a la edad del niño. El diagnóstico es clínico, aunque la ecografía podría ser de utilidad. Rara vez precisa pruebas complementarias agresivas o tratamiento alguno. Se presenta un caso clínico de un lactante que recibió dicho diagnóstico. (AU)
Precalcaneal congenital fibrolipomatous hamartoma is a benign and uncommon entity characterized by the appearance at birth or months later of nodules of adipose tissue, symmetrical and asymptomatic in the soles of the feet. It follows a favourable evolution, with a growth according to the age of the child. The diagnosis is clinical, although ultrasound may be helpful. Aggressive follow-up tests or treatment are rarely needed. We present a clinical case of an infant who received such a diagnosis. (AU)
Humans , Male , Infant , Hamartoma/diagnosis , Hamartoma/therapy , Congenital Abnormalities , Heel/pathology
An 11-year-old female Collie presented with a significantly increased abdominal circumference. Computed tomography of the abdomen revealed that the left lateral lobe of the liver contained a large mass, which was excised via laparotomy. Histologically, many small, dilated, cystic luminal structures were anastomosed and connected to a net-like structure. Immunohistochemistry revealed cytokeratin 19-immunopositive areas, representing bile duct structures in the cystic lumen. Based on these results, the tumour was diagnosed as a bile duct hamartoma. To our knowledge, this is the first report of a bile duct hamartoma in a dog.
Dog Diseases , Hamartoma , Liver Neoplasms , Female , Dogs , Animals , Bile Ducts, Intrahepatic/pathology , Bile Ducts/pathology , Liver Neoplasms/veterinary , Hamartoma/diagnosis , Hamartoma/veterinary , Dog Diseases/pathology
An adult male presented to the ENT clinic with a 1-year history of unilateral nasal blockage. He had presented to another institution 5 years previously with the same issue, undergoing resection of what was reported to be a benign inflammatory polyp with osseous metaplasia. Detailed examination revealed a large mass filling the left nasal cavity. Excisional biopsy and secondary specialist review of pathology revealed nasal chondromesenchymal hamartoma (NCMH) with associated DICER1 mutations. NCMH is a rare, benign tumour of the sinonasal tract, presenting more often in the early childhood, with symptoms related to the site and extent of the tumour. As highlighted in this case, complete excision is mandatory for definitive diagnosis and treatment of NCMH, and an awareness of the association with DICER1 mutation, which can predispose individuals to a range of neoplasia, is key to providing appropriate genetic counselling.
Hamartoma , Nasal Obstruction , Paranasal Sinuses , Humans , Male , Child, Preschool , Adult , Hamartoma/diagnosis , Hamartoma/genetics , Hamartoma/surgery , Nasal Obstruction/pathology , Nasal Cavity/pathology , Paranasal Sinuses/pathology , Mutation , Ribonuclease III/genetics , DEAD-box RNA Helicases/genetics
We present a rare case of a female non-smoker diagnosed with a large benign tracheal chondrohamartoma, masquerading as severe asthma. The patient was in her late 70s and had a history of asthma. She had presented to hospital with multiple episodes of intractable cough, shortness of breath and wheeze in the year prior to diagnosis. She had been managed for asthma for two decades by different physicians in primary care, based on documented airflow obstruction. Given her repeated admissions, the respiratory team was consulted. In view of the persistent cough despite maximal treatment, she was referred for a thoracic high-resolution CT scan which revealed a large intraluminal tracheal polypoid mass. Flexible bronchoscopy was performed and this confirmed the presence of a large pedunculated mass in the distal trachea. The patient subsequently underwent removal of the mass by means of rigid bronchoscopy, laser and electrocautery followed by argon ablation of residual tissue. She made an excellent recovery with full resolution of her respiratory symptoms and normalisation of her pulmonary function tests.
Asthma , Hamartoma , Female , Humans , Asthma/diagnosis , Bronchoscopy , Cough/etiology , Hamartoma/diagnosis , Hamartoma/surgery , Trachea/surgery , Aged
BACKGROUND: To report the spontaneous regression of an isolated retinal astrocytic hamartoma in a newborn. During the seven-month follow-up duration, fundus photography and fluorescein angiography examinations were performed. CASE PRESENTATION: An isolated retinal astrocytic hamartoma was detected in the nasal retina of the left eye of a 4-day-old male infant. At the time of initial presentation, we detected a solitary yellowish-white flat mass with an approximate size of 1.5 disc diameters in the nasal retina. Fluorescein angiography (FA) revealed a diffuse hyperfluorescence with slight fluorescence leakage. Seven months later, the fundus examination showed no lesion in the left eye, FA revealed mild tortuous vessels without leakage. CONCLUSIONS: In the present case, we established that the isolated retinal astrocytic hamartoma in this infant has underwent spontaneous regression. This case can point out that follow -up reexaminations are advisable for a solitary yellowish-white flat mass of the fundus in a newborn.
Hamartoma , Retina , Infant , Infant, Newborn , Humans , Male , Fluorescein Angiography , Fundus Oculi , Hamartoma/diagnosis , Physical Examination
Biliary hamartomas are tumor-like malformations of the liver. Biliary hamartomas are a type of fibrocystic disorder originating from ductal plate malformation and are typically considered benign, but with the risk of malignant transformation. In this case report, we present a rare occurrence of intrahepatic cholangiocarcinoma (ICC) that developed from biliary hamartomas, along with a literature review. A 76-year-old man with a diagnosis of biliary hamartomas had a history of recurrent cholangitis for 12 years, necessitating cholecystectomy, ERCP, and repeated antibiotic treatments. During his last episode, imaging studies revealed a hypervascular infiltrative mass in the right posterior liver segment. A liver biopsy confirmed adenocarcinoma and subsequent surgical pathology revealed ICC originating from biliary hamartomas. Chronic inflammation in the bile duct associated with biliary hamartomas may serve as a potential trigger for malignant transformation, as observed in this case. Therefore, close surveillance is essential for patients with biliary hamartomas presenting with infectious complications.
Bile Duct Neoplasms , Cholangiocarcinoma , Cholangitis , Gastrointestinal Neoplasms , Hamartoma , Male , Humans , Aged , Cholangiocarcinoma/complications , Cholangiocarcinoma/diagnosis , Cholangitis/complications , Cholangitis/diagnosis , Hamartoma/complications , Hamartoma/diagnosis , Bile Duct Neoplasms/complications , Bile Duct Neoplasms/diagnosis , Bile Ducts, Intrahepatic
