Hamartoma Clinical Presentation

Updated: Oct 12, 2021
  • Author: Rohit Seth, MD, PhD, MRCS(Edin); Chief Editor: Harris Gellman, MD  more...
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History and Physical Examination

Bone-forming tumors

Bone islands are usually incidental findings on radiographs and do not normally cause symptoms. [36] Patients with osteoid osteomas usually present with a dull, aching pain as the main symptom. Associated findings are swelling or a mass. Osteoblastomas usually clinically appear with pain lasting from 2 weeks to 1 year. The pain is described as boring, with localized tenderness. Osteosarcomas manifest with pain, swelling, and a palpable mass.

The differential diagnosis of bone islands can be made only with imaging. Differential diagnoses include calcified osteoid osteomas, osteoblastomas, osteoblastic metastases, and sclerotic osteosarcomas. Bone islands are also similar to osteopoikilotic lesions.

The presentation of osteopoikilosis is similar to that of bone islands; both conditions are asymptomatic. Differential diagnoses include bone islands and osteoblastic metastases from breast carcinoma.

Most patients with melorheostosis are asymptomatic. The differential diagnosis includes parosteal sarcoma if the disease is localized and includes myositis ossifications and calcified hematoma if the disease is associated with soft-tissue calcification.

Osteopathia striata is most commonly benign and asymptomatic. This condition is usually associated with osteopoikilosis and melorheostosis; when it is, it is referred to as a mixed sclerosing bone dystrophy. Differential diagnoses include osteopoikilosis and the autosomal dominant form of osteopetrosis.

Cartilage-forming tumors

Most patients with osteochondroma or multiple osteochondromas are asymptomatic, though they may also present with a palpable mass, pain, or a pathologic fracture. Evidence suggests an association with spinal cord compression, pseudoaneurysm formation, vein thrombosis, or bursitis. The differential diagnosis includes metachondromatosis, turret exostoses, and bizarre parosteal osteochondromatous proliferation, among other rare syndromes.

Epiphyseal osteochondroma usually involves a single limb and occurs in young children. The disease most commonly occurs in the lower femur, upper tibia, or talus. Patients can present with unequal limb lengths, and valgus or varus deformities of the limbs may develop. The possibility of an epiphyseal osteochondroma should be kept in mind in pediatric cases when a bony lesion occurs near to a joint in the lower limb. [37]  Differential diagnoses include chondroblastoma, osteochondroma, and enchondroma.

Patients with enchondromatosis usually present before the age of 10 years. The hands and feet may be involved. Severe defects of the femur can result in bowing and shortening of the bone, and patients can develop deformity of affected bones. The major differential diagnosis is chondrosarcoma.

Fiber-forming tumors

Most nonossifying fibromas are asymptomatic. Large lesions can be symptomatic, however, and patients can present with a pathologic fracture. Jaffe-Campanacci syndrome is mainly characterized by nonossifying fibromas, extraskeletal congenital anomalies (eg, café-au-lait spots, mental retardation, hypogonadism, or cryptorchidism), and ocular and cardiovascular malformations. [38]  The differential diagnosis includes fibrous dysplasia, osteoid osteoma, and chondromyxoid fibroma.

Monostotic forms of fibrous dysplasia are commonly asymptomatic. Patients may report slight pain, tenderness, swelling, or deformity. The disease process may become apparent because of a pathologic fracture. [33]  Polyostotic forms are symptomatic before the age of 10 years. The incidence of pathologic fractures is increased in these cases. An abnormal cutaneous pigmentation is an associated finding in 50% of patients with polyostotic disease.

Approximately 3% of all polyostotic fibrous dysplasias are associated with McCune-Albright syndrome. Patients develop fibrous dysplasia, cutaneous pigmentation, associated endocrine disorders, acromegaly, hyperparathyroidism, or Cushing syndrome. Girls often experience precocious puberty.

Differential diagnoses for fibrous dysplasia include enchondroma, enchondromatosis, eosinophilic granuloma, intraosseous osteosarcoma, giant cell tumor, bone hemangioma, nonossifying fibroma, primary hyperparathyroidism, Paget disease, and neurofibromatosis type 1.

Benign non-matrix-forming tumors

Patients with hemangiomas of bone are asymptomatic; when they are symptomatic, the main clinical finding is progressive pain. Symptoms are associated with the site of occurrence. Examples are nerve compression, vertebral body collapse, and hematoma in association with vertebral hemangiomas. The differential diagnosis includes bone cysts, bone metastases, bone lymphomas, multiple myelomas, osteosarcomas, and Paget disease.

Hemangiomas of thoracic vertebra produce more symptoms that those within the lumbar vertebra. This is believed to be due to the less accommodative ratio of the spinal cord to the canal in the thoracic segment. This is particularly exaggerated in normal kyphosis of the thoracic spine. [39]

Reports in the literature state that pregnancy induces neurologic symptoms from previously silent hemangiomas. It is believed to result from the gravid uterus causing venous obstruction, consequently leading to an increase in blood flow through the venous plexus. This results in expansion and growth of previously silent hemangiomas. [40, 41]

Patients with skeletal hemangiomatosis or lymphangiomatosis can be asymptomatic; the lesions can cause also pain, swelling, or a pathologic fracture. [42]  The differential diagnosis includes familiar osteolysis, macro-osteolysis and essential osteolysis. [43]