Ollier disease

Ollier Disease: A Rare Skeletal Disorder

Ollier disease, also known as enchondromatosis, is a rare skeletal disorder characterized by the development of multiple benign cartilaginous tumors (enchondromas) within the bones. These growths typically occur in the long bones of the arms and legs, particularly in the area where the shaft and head of a bone meet (metaphyses).

Key Features:

• Multiple enchondromas develop within the bones
• Typically affects the long bones of the arms and legs
• Can also involve the pelvis, ribs, breastbone (sternum), and/or skull
• Noncancerous (benign) growths of cartilage that develop within the bones

Symptoms:

• Asymmetry and shortening of the affected limbs
• Palpable bony masses may appear in the first decade of life
• Variable clinical expression, can involve a single bone segment or multiple limbs

Prevalence: Estimated to affect 1 in 100,000 people, with mild presentations possibly being underdiagnosed.

References:

• [1] Ollier disease is characterized by an asymmetric distribution of cartilage lesions (Search result 7)
• [2] The condition was described by Louis Xavier Édouard Léopold Ollier in 1889 who reported limb deformity related to abnormal growth of cartilage (Search result 4)
• [3] Enchondromas are common benign usually asymptomatic cartilage tumors, which develop in the metaphyses and may become incorporated into the diaphyses of long tubular bones (Search result 13)

Ollier Disease Signs and Symptoms

Ollier disease, also known as enchondromatosis, is a rare skeletal disorder characterized by the growth of multiple benign tumors (enchondromas) within the bones. The signs and symptoms of this condition can vary in severity and may not always be apparent at birth.

Common Signs and Symptoms:

• Abnormal and/or slow growth of arms and legs, often observed between the ages of one and four years [1]
• Enchondromas develop near the ends of bones, where normal growth occurs [3]
• Skeletal deformities, limb discrepancy, and fractures may occur due to the growths [4]
• Swelling and morphological abnormalities in affected limbs [6]
• Bone shortening can be a rare presenting feature [6]

Age of Onset:

• Symptoms usually become apparent by early childhood, with some cases detectable at birth or around age 5 [2][3]
• The disease may manifest by age 10, with enchondromas developing at the end of bones where normal growth occurs [8]

Other Possible Symptoms:

• A bony mass on the toe
• Asymmetric growth

It's essential to note that Ollier disease is a rare condition, affecting only 1 in 100,000 people [2]. If you suspect you or your child may have this condition, consult with a medical professional for proper diagnosis and treatment.

References: [1] - Context result 1 [2] - Context result 2 [3] - Context result 3 [4] - Context result 4 [6] - Context result 6 [8] - Context result 8

Diagnostic Tests for Ollier Disease

Ollier disease, also known as enchondromatosis, is a rare genetic disorder characterized by the growth of multiple benign cartilage tumors (enchondromas) in the bones. Diagnosing Ollier disease can be challenging, but various diagnostic tests can help confirm the condition.

Imaging Studies

• Plain Radiographs: These are typically the first imaging studies used to diagnose Ollier disease. They demonstrate osteolytic lesions that connect to the medullary canal with sclerotic margins and well-defined borders [2].
• Computed Tomography (CT) scans: CT scans can help evaluate the extent of bone involvement and detect any potential complications, such as fractures or deformities [3].
• Magnetic Resonance Imaging (MRI): MRI is useful for monitoring the disease and evaluating intraosseous and soft tissue involvement. It can also help identify any potential complications, such as nerve compression or muscle atrophy [3].

Clinical Assessment

• Physical Examination: A thorough physical examination by a healthcare provider can reveal signs of Ollier disease, including limb deformities, swelling, and painful nodules [7].
• Medical History and Symptoms: The healthcare provider will ask about the patient's medical history and symptoms to determine if they are consistent with Ollier disease.

Other Diagnostic Tests

• Blood tests: Regular blood tests can help monitor the patient's overall health and detect any potential complications, such as anemia or infection [4].
• Histological analysis: While histological analysis has a limited role in diagnosing Ollier disease, it may be used to confirm the presence of enchondromas.

References

[1] Freed D, Stevens E L, Pevsner J. Somatic mosaicism in the human genome. Genes 2014; 5 (11): 1113-1126. [2] Ollier Disease: Key Points. [Context result 2] [3] The diagnosis relies on clinical features and imaging findings, in particular conventional radiological evaluation. Enchondromas appear as slow growing, radiolucent defects that originate in the metaphyses. Both CT and MRI are useful for monitoring the disease, with MRI allowing evaluation of intraosseous and soft tissue involvement. [Context result 3] [4] Prevalence of Ollier disease (OD) is estimated at 1/100,000, but mild presentations without skeletal deformities may be underdiagnosed. OD is approximately evenly represented in both sexes. ... Diagnostic tests (39) Patient organisations (108) Orphan designation(s) and orphan drug(s) (0) Research activities on this disease. Research projects (37) [Context result 15]

Differential Diagnosis of Ollier Disease

Ollier disease, also known as enchondromatosis, is a rare nonhereditary skeletal disorder characterized by multiple enchondromas (benign cartilage growths) within the bones. When diagnosing Ollier disease, it's essential to consider other conditions that may present with similar symptoms.

Conditions to Consider:

• Hereditary Multiple Exostoses (HME): This is an autosomal dominant disorder characterized by multiple bone tumors capped by cartilage, typically occurring in the metaphyses of long bones. HME can be differentiated from Ollier disease based on clinical and radiological criteria [1-3].
• Maffucci Syndrome: A rare genetic disorder that presents with soft-tissue hemangiomas (benign vascular tumors) and enchondromas. Maffucci syndrome is another cause of enchondromatosis but can be distinguished from Ollier disease by the presence of phleboliths (calcium deposits in blood vessels) [4].
• Metachondromatosis: A rare condition characterized by osteochondromas (benign cartilage growths on bones) and enchondromas. Metachondromatosis can be differentiated from Ollier disease based on the location of the lesions, with metachondromatosis typically involving the surface of bones rather than the center [11].
• Multiple Hereditary Exostoses (MHE): A rare genetic disorder characterized by multiple osteochondromas. MHE can be considered in the differential diagnosis of Ollier disease, particularly if there are lesions on the surface of bones [5].

Key Diagnostic Features:

To establish a diagnosis of Ollier disease or any of these conditions, clinical and radiological criteria are used. The most important criterion is the presence of multiple enchondromas within the bones, which can be confirmed through imaging scans such as X-rays, CT scans,