Mammary hamartomas are typically a benign condition and rarely develop into malignant lesions. Only 14 cases of carcinomas associated with a hamartoma have been documented in the literature. In this case report, we describe a case of invasive ductal carcinoma within a hamartoma in a 72-year-old woman. Mammography, ultrasonography, and magnetic resonance imaging showed the features of a typical hamartoma with a suspicious mass arising in it. This case illustrates the importance of identification of unusual findings in a typical mammary hamartoma on radiologic examinations.
Mammary hamartoma; Invasive ductal carcinoma
A pancreatic hamartoma is a rare benign lesion that may be mistaken for malignancy. A pancreatic hamartoma can present with vague, non-specific symptoms, which can be difficult to diagnose despite modern diagnostic tools. We report here a pancreatic hamartoma diagnosed after surgical resection. A 52-year-old female presented with postprandial abdominal discomfort. Abdominal computed tomography and pancreatic magnetic resonance imaging revealed a 2.2 × 2.5-cm cystic mass in the pancreatic head. The patient underwent a pylorus-preserving pancreaticoduodenectomy. The histopathological and immunohistochemical studies helped make the diagnosis of pancreatic hamartoma. Here, we report a case of pancreatic hamartoma and review the relevant medical literature.
Hamartoma; Pancreas; Pancreaticoduodenectomy
Introduction. Lung hamartomas are the most common benign tumors of the lung. Typically,
they are located in the peripheral lung, while an endobronchial localisation is rare. Case Presentation. We present a case with the rare diagnosis of an endobronchial hamartoma as incidental finding in a 69-year-old male, caucasian patient with atrial
fibrillation. At first admission, the patient's exertional dyspnea was caused by atrial fibrillation. Relapse of exertional dyspnea in the absence of arrhythmia was due to postobstructive pneumonia caused by an endobronchial hamartoma. Conclusion. Endobronchial tumors such as endobronchial lipoma or hamartoma should be considered as potential causes of exertional dyspnea and thus as differential diagnosis of
atrial fibrillation. Although endobronchial hamartomas are benign, resection is recommended to prevent postobstructive lung damage.
Myoid hamartoma is an uncommon type of breast hamartoma and its recurrence is very rare. We report the imaging appearance of an unusual case of recurrent myoid hamartoma of the breast mimicking malignancy in a 43-year-old woman. Although the mammographic and ultrasonographic findings have long been described in the literature, MR finding with a dynamic study has not, to the best of our knowledge, been reported previously.
Breast; Myoid hamartoma; Hamartoma, MR
The sinonasal tract is a complex anatomic site, home to a wide variety of reactive, inflammatory, benign, and malignant lesions. Inflammatory polyps and papillomas are usually easily recognized by pathologists. A poorly understood lesion that has been more clearly defined in recent years is the nasal hamartoma. The epithelial subtypes include seromucinous hamartoma, respiratory epithelial adenomatoid hamartoma, and hybrid lesions. Seromucinous hamartomas have only been recognized and substantially reported over the past few years. They are a diagnostic challenge, needing to be distinguished from low grade adenocarcinomas, and are of interest because most of the basic questions about their pathophysiology remain unanswered. Herein, we present two novel cases of seromucinous hamartoma with features that partly expand the morphologic spectrum of these lesions, discuss the differential diagnosis, and review the literature to compare our findings with previously reported cases with the aim of better understanding this interesting entity.
Seromucinous hamartoma; Microglandular adenosis; Low grade adenocarcinoma; Nasal cavity; Respiratory epithelial adenomatoid hamartoma
Hepatic mesenchymal hamartoma (HMH) is a hamartomatous growth of the mesenchymal tissue in the liver, which is of an uncertain aetiology. It is a space-occupying lesion that can potentially compress the adjacent organs, resulting in various complications, which include death. Hepatic mesenchymal hamartoma is characterized by the variable proliferation of the myxomatous mesenchyme and the malformed bile ducts. The differential diagnosis includes other paediatric hepatic masses. The diagnosis is typically made during infancy, and a complete resection is invariably curative. Here, we are reporting a case of HMH in a one year old female child who presented with abdominal distension. A clinical diagnosis of malignancy was made, based on the symptoms and imaging studies and a final diagnosis was made only after a histopathological examination. The lesion was potentially benign, with very rare chances of recurrence. This case has been presented due to its rarity.
Hepatoblastoma; Solid and cystic masses in the liver; Mesenchymal hamartoma; Bile ducts
Hamartoma of the breast is an uncommon lesion. Although it can possess characteristic radiological features, the pathological appearance is not distinctive. Hamartoma is generally considered benign, but four cases have been reported with ductal and lobular carcinoma arising in hamartomas. This report describes further cases of hamartoma from which ductal carcinoma in situ arose, with one showing early invasion. In both cases, the tumours were within the hamartomas and were adequately excised during lumpectomies of the hamartomas, and the patients were well afterwards. This report emphasises the importance of adequate sampling of mammary hamartoma.
hamartoma; ductal carcinoma in situ; fibroadenoma
Tailgut cysts, also known as retrorectal cystic hamartomas, are rare developmental abnormalities that typically occur in the retrorectal space. They are believed to arise from remnants of the embryonic hindgut (Hjermstad and Helwig, 1988). They can present as incidental findings during routine examination but over half of patients are thought to present with symptoms. MRI has become the modality of choice to image these frequently misdiagnosed cysts. Biopsy is not recommended. Complete intact surgical excision is advised to avoid the potential complications of these cysts which include infection, fistula formation, and the possibility of malignant transformation (Hjermstad and Helwig (1988), Mathis et al. (2010)). We describe the case of a 46-year-old female who presented with a 6-month history of low back pain. CT and MRI imaging demonstrated a complex retrorectal lesion with supralevator and infralevator components. This was removed using a combined transperineal and transabdominal approach. Histology confirmed a tailgut cyst.
A fibrolipomatous hamartoma—also known as a fibrofatty overgrowth, perineural lipoma, intraneural lipoma, and lipomatous hamartoma—is a rare, benign, congenital lesion most commonly found in the median nerve, usually at the level of the wrist or hand. To our knowledge, no published cases report a hamartoma arising from the median nerve at the level of the elbow. We report a case of a fibrolipomatous hamartoma in a 55-year-old woman that necessitated a surgical intervention because of its size and associated neurologic symptoms.
Elbow; fibrolipomatous hamartoma; lesion; median nerve
Neuromuscular and vascular hamartoma (NMVH) is a very rare stricturing condition of the small intestine, occurring focally and causing recurrent obstructive symptoms or occult chronic gastrointestinal bleeding. Salas et al. (Neuromesenchymal hamartoma of the small bowel. J Clin Gastroenterol. 1990, 12 (6): 705-9) proposed the term of "Neuromesenchymal hamartoma" for the cases of NMVH with participation of mesenchymal tissues.
We present the case of a 60-year-old male patient admitted twice in a month with abdominal pain. On the third admission with clinical signs of acute abdomen, an exploratory laparotomy was performed. The clinical and laboratory findings that occurred after the patient's evaluation, the intraoperative findings and the pathological features of this lesion are reported.
Hamartomas of the spleen (splenomas) are very rare benign tumors composed of an aberrant mixture of normal splenic elements. Herein we present a unique case of a symptomatic non-palpable splenoma in a 64-year-old female patient presented with anemia and thrombocytopenia and we describe imaging findings in ultrasound, computed tomography and magnetic resonance imaging. To our knowledge, this is the first case of a relatively small splenic hamartoma (35 mm at histopathology) associated with thrombocytopenia and anemia that resolved completely several months after splenectomy.
spleen; splenoma; hamartoma
Mesenchymal hamartoma of the liver is the second most common benign liver tumor in children, yet its biology and pathogenesis are poorly understood. Typically, it presents as a large benign multicystic liver mass in children younger than three years, amenable to complete resection. Most tumors gradually increase in size, some reaching enormous proportions, some can undergo incomplete spontaneous regression, and rarely, few have shown malignant transformation to undifferentiated (embryonal) sarcoma. Here, we report a 13 month-old child who presented with abdominal distension and respiratory distress. Ultrasonography, Computed Tomography (CT), and magnetic resonance imaging (MRI) of the abdomen were suggestive of a mesenchymal hamartoma of the liver. Right hepatectomy was performed. Postoperatively, the patient recovered well. An attempt was also made to understand the possible etiology of the tumor.
Hemangio-endothelioma; mesenchymal hamartoma; right hepatectomy
Splenic hamartoma is a rare benign tumor, and although minimally invasive surgery may be suitable for this condition, there have only been 2 previous reports of laparoscopic surgery. Here we report the third case of splenic hamartoma managed by laparoscopic splenectomy. A 37-year-old male was incidentally diagnosed by abdominal ultrasonography with a hypoechoic mass measuring 2.5 cm × 2.4 cm in the spleen. Color Doppler sonography showed multiple flow signals within the mass and contrast-enhanced computed tomography revealed strong enhancement of the lesion. On T1- and T2-weighted magnetic resonance images, the splenic mass was demonstrated as isointense and hyperintense respectively. Although a malignant tumor could not be ruled out, a hand-assisted laparoscopic splenectomy was performed because the splenic mass was limited in size and had not invaded adjacent organs. The pathological diagnosis was splenic hamartoma. The postoperative course was uneventful and the patient was discharged by the seventh postoperative day. Although splenic hamartomas have some specific imaging features, more reports and analyses of these cases are required to increase the reliability of the diagnosis and management. Hand-assisted laparoscopic splenectomy may play a pivotal role in the postoperative diagnosis and management of this condition.
Splenic hamartoma; Splenoma; Splenic tumor; Laparoscopic splenectomy; Splenectomy
Evaluation of palpable neck masses may be a diagnostic problem in pediatric patients, with differential diagnosis including congenital, inflammatory, tumoral and traumatic lesions. Ultrasonography is usually a satisfactory method to make a correct pre-operative evaluation of neck masses, although diagnosis is often challenging for the surgeon and the radiologist and sometimes only possible after a histopathological examination of the resected lesion.
We report an 8-month-old patient with a cervical, anterior midline mass. Ultrasonographic images showed features suggesting a partly cystic lesion, with a preoperative suspect of thyroglossal duct cyst. Histological examination, performed after surgical removal of the mass, led to a diagnosis of lymph node angiomyomatous hamartoma (AH).
AH, a rarely occurring benign lymph node lesion, has been reported in the neck lateral region only twice. This case, presenting as a palpable neck midline mass, is the first reported case occurring in infancy. Although rare, AH should be included in the differential diagnosis of head and neck masses.
Angiomyomatous hamartoma; Pediatric neck mass; Ultrasonography; Lymph node
Hepatic hamartomas were thought to be a rare finding in patients with tuberous sclerosis. The purpose of this study was to assess their incidence in children with tuberous sclerosis and to review the literature. During 1984-90 we examined 51 children by ultrasonography; there were 25 boys and 26 girls. Their age ranged from 3 months to 18 years. Liver hamartomas were seen in 12 (23.5%) of the children, more often in girls than boys (5:1). Their incidence increased with age reaching 45% in children over the age of 10. They did not produce any symptoms of hepatic dysfunction. Our study and review of reported cases prove that hepatic hamartomas are a common finding in patients with tuberous sclerosis and may be very helpful in providing a more accurate diagnosis and consequently help in genetic counselling.
Myxomas are locally invasive, benign mesenchymal neoplasms with odontogenic, osteogenic, or soft tissue origin. Facial myxomas probably account for less than 0.5% of all paranasal sinus and nasal tumors. We report a case of a left painless periocular mass in a 11-month-old girl. The lesion was resected with a clinical diagnosis of lacrimal sac tumor. Histopathology and immunohistochemistry proved the tumor to be a myxoma. There has been no recurrence after 4 years of followup. Midfacial myxomas should be differentiated from other benign and malignant tumors such as dermoid, hamartoma, neurofibroma, nasolacrimal duct cyst, and sarcomas in particular embryonal rhabdomyosarcoma. Because of the infiltrative nature of these tumors, a wide surgery is required to achieve clear resection margins and avoid recurrence.
Intraneural lipoma and fibrolipomatous hamartoma of the nerve are rare soft tissue tumors that most commonly occur in the forearm and the wrist, and particularly within the median nerve. When the lesions are large enough, they may cause progressive compression neuropathy. They are distinct entities each other with different clinical and radiological findings and thereby need different surgical treatments.
PRESENTATION OF CASE
We report here 3 cases of intraneural lipomatous tumors of the median nerve (1 case of intraneural lipoma and 2 cases of fibrolipomatous hamartoma).
All patients were surgically treated successfully with complete excision for intraneural lipoma and with carpal tunnel releases for the both fibrolipomatous hamartomas.
A careful preoperative planning is necessary for the optimal treatment by distinguishing whether it is a resectable or non-resectable tumor based on the clinical and radiological findings, because they have characteristic findings each other.
Intraneural lipoma; Fibrolipomatous hamartoma of the nerve
Neuromuscular hamartomas are rare benign tumors with mature skeletal elements mixed with mature neural elements. They present typically as solitary lesions in childhood and have been reported to be associated with cranial nerves or large peripheral nerves such as the brachial plexus, median nerve, and sciatic nerve. To date, eight cases of sciatic nerve neuromuscular hamartomas have been reported. We present a case along with an outline for the natural history of the disease with a review of the literature of the reported cases dating back to 1895.
An 11-year-old boy presented with progressive right lower extremity pain and atrophy. Magnetic resonance imaging revealed a large right sciatic nerve mass, and electromyography demonstrated evidence of ongoing denervation and reinnervation. Initial computed tomography-guided biopsy was unrevealing and subsequent open biopsy was consistent with neuromuscular choristoma.
Neuromuscular choristomas represent a rare disease. Symptoms of foot deformity, leg size discrepancy, and pain merit a complete work-up including spinal and peripheral nerve etiologies.
Neuromuscular choristoma; neuromuscular hamartoma; peripheral nerve tumor; sciatic nerve tumor
Lipofibromatous hamartoma is a rare tumour of peripheral nerves which is characterised by an excessive infiltration of the epineurium and perineurium by fibroadipose tissue. To the best of our knowledge, only approximately 88 cases are reported in the literature. We report a rare case of lipofibromatous hamartoma of the median nerve causing secondary carpal tunnel syndrome in a 25 year old patient. This patient was treated conservatively with decompression and biopsy and experienced a complete resolution of symptoms post-operatively. Magnetic resonance imaging may be used to diagnose this lesion as it has very distinctive characteristics. Multiple conditions have been associated with this lesion and a greater understanding of these associations may clarify the pathogenesis. The architecture of the tumour makes excision very challenging and the surgical management remains controversial. A review of the literature regarding the etiology, pathogenesis and surgical management of lipofibromatous hamartoma is included.
Cowden syndrome (CS) is an autosomal dominant disorder characterized by presence of multiple hamartomas, and other benign and malignant abnormalities of the breasts, skin, thyroid, endometrium, gastrointestinal tract, and central nervous system. Hamartomas are benign, developmentally disorganized tumors that can develop in any of the above mentioned organs. The presence of massive calcifications in the breasts in very young women is an indication to perform a breast MRI to exclude a neoplasm since, like in the current case report, presence of breast calcifications may obscure a neoplasm. Although fibrocystic disease and cooccurrence of fibrocystic disease and breast cancer are much more common than CS, the presence of massive calcifications in the breasts of very young women should elicit the possibility of an underlying genetic disease. Furthermore, breast cancer and macrocephaly are considered major criteria for the diagnosis of CS and the combination of both is enough to establish the clinical diagnosis of this entity. Fibrocystic disease of the breasts and multinodular goiter are minor criteria. Family history is also important for the diagnosis of (any) hereditary disease.
Hamartomas are non-neoplastic lesions constituted by a mixture of tissues indigenous to the region. Respiratory epithelial adenomatoid hamartomas are characterised by glandular proliferation lined by ciliated airway epithelium. Their localisation in the nasal cavity is rare and most frequent cases described so far were associated with the posterior nasal septum.
A 9-year-old Caucasian boy presented with long-standing nasal obstruction. A large right nasal mass was evident on physical and CT examinations. It was surgically removed from the anterior nasal septum under general anaesthesia. Histologically, the diagnosis of REAH was established. The tumour lined by stratified squamous and ciliated respiratory epithelium was characterised by prominent glandular proliferation. By immunohistochemistry, the tumour was positive for cytokeratins, smooth muscle actin, vimentin, laminin, collagen type IV, CD8, and CD68. No S-100 immunoreactivity was observed. The patient has been asymptomatic for 12 months with completely healed lining of the nose.
Respiratory epithelial adenomatoid hamartoma, although rare, must be taken into consideration in differential diagnosis of nasal exophytic lesions.
Adenoma is the most common cause of duodenal polyps, while hamartomas are very rare. We present a patient with a preoperative histology proved diagnosis of isolated duodenal tubulovillous adenomatous polyp with high-grade dysplasia for whom we performed laparoscopic antrectomy.
The patient was a 56-year-old male with vague upper abdominal pain. Investigations revealed a 3-cm x 3-cm mass arising from the duodenal mucosa with no evidence of extraserosal spread. Histopathology documented an adenomatous polyp with high-grade dysplasia, so a laparoscopic antrectomy was performed.
The patient had an uneventful postoperative period, requiring only 2 doses of parenteral analgesics. He was discharged on the seventh postoperative day. The final histopathological findings were consistent with benign hamartoma. No recurrence has been reported after 14 months of follow-up with endoscopy.
Many procedures have been described for polyps, such as endoscopic excision, duodenectomy, pancreatoduodenectomy, and laparoscopic polyp excision. In our patient, the decision to perform duodenectomy was based on the preoperative findings of a sessile tubulovillous adenomatous polyp with high-grade dysplasia. Histologically, the 2 entities can be identical, especially with the small tissue volume obtained from endoscopic biopsy.
Given these observations, antrectomy was probably ideal, because endoscopic excision would have been inadequate and even dangerous while pancreatoduodenectomy would have been too radical.
Duodenal polyp; Tubulovillous adenoma; Laparoscopic antrectomy; hamartoma
Dermal lymphatic malformations are rare congenital hamartomas of superficial lymphatics characterized by high recurrence rates after excision. The standard therapy for a single lesion is surgical excision with wide margins, which reduces recurrence but can have a potentially unacceptable aesthetic outcome. A case of a 24-year-old woman with a 6 cm × 5 cm dermal lymphatic malformation on her right thigh, diagnosed by clinical history, physical examination, magnetic resonance imaging and pathological findings, is reported. The patient underwent wide local excision with split-thickness skin grafting. After pathological examination revealed negative margins, the patient underwent tissue expander placement and excision of the skin graft with primary closure. The lesion did not recur, and the patient achieved a satisfactory aesthetic result. The present case represents the first report of the use of tissue expanders to treat dermal lymphatic malformations in the lower extremity and demonstrates a safe, staged approach to successful treatment.
Dermal lymphatic malformation; Lower extremity; Lymphangioma; Lymphangioma circumscriptum; Lymphatic malformation; Tissue expanders
Fibrous hamartoma of infancy is an uncommon benign fibrous proliferation, usually presenting as a solitary nodule. A rare example of multiple fibrous hamartoma of infancy is described. Two masses which developed in the upper arm of a 10-month-old boy were successfully excised, and one month later three small nodules 2 cm below the previous operation field appeared. It will be further elucidated whether multiple forms and early recurrence are related or not as cases accumulate.
Haemangiomas are common benign tumours that are generally detected within the skin, mucosal surfaces and soft tissues. However, intranodal haemangiomas are extremely rare and are among the benign primary vascular abnormalities of the lymph nodes that include lymphangioma, haemangioendothelioma, angiomyomatous hamartoma and haemangiomas. In this case report, we present the imaging and pathological findings of an intranodal haemangioma in the pancreatic head simulating a pancreatic neuroendocrine tumour. To the best of our knowledge, this is the first report of an intranodal haemangioma in this location.