obsolete endosteal hyperostosis

Obsolete Endosteal Hyperostosis: A Rare Condition

Obsolete endosteal hyperostosis, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull and other bones [4]. This condition is marked by an abnormal growth of bone tissue, leading to thickening and hardening of the affected areas [5].

Key Features

• Benign and usually asymptomatic osteosclerosis
• Not associated with an increased fracture risk
• Hyperostosis of the skull and other bones
• Rare craniotubular hyperostosis

Causes and Symptoms

The exact cause of obsolete endosteal hyperostosis is unknown, but it is believed to be a genetic disorder [7]. The symptoms of this condition are typically mild and may include facial dysmorphism, intellectual disability, and short stature [8].

References

• [4] Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull...
• [5] Hyperostosis corticalis generalisata, also known as van Buchem disease, is a rare craniotubular hyperostosis characterized by hyperostosis of the skull...
• [7] by S Unger · 2023 · Cited by 203 — Endosteal hyperostosis, oligodontia, short stature, facial...
• [8] NOS 25-0400, Endosteal hyperostosis, oligodontia, short stature, facial dysmorphism and intellectual disability, POLR3GL-related...

Endosteal Hyperostosis Signs and Symptoms

Endosteal hyperostosis, also known as Worth disease or autosomal dominant osteosclerosis, is a rare genetic disorder characterized by excessive bone growth on the inner surface of bones. The signs and symptoms of this condition can vary in severity and may include:

• Pain in the lower limbs: This is one of the most common symptoms, affecting 94% of patients (3).
• Endosteal thickening: This leads to widening of diaphyseal cortices and narrowing of medullary canals (4).
• Osteosclerosis: Involves the skull base, facial bones, vertebrae, and other bones (4).
• Bone overgrowth: Causes entrapment and dysfunction of several nerves and blood vessels (9).

These symptoms may start to appear as a teenager or at any age, depending on the individual case (11). It's essential for medical providers to consider these signs and symptoms when diagnosing endosteal hyperostosis.

References:

• [3] Common symptoms and signs included pain in the lower limbs (94%, 17 ...).
• [4] Endosteal thickening homogeneously widens diaphyseal cortices and narrows medullary canals. Osteosclerosis involves the skull base, facial bones, vertebrae, ...
• [9] The calvaria and skull base display typical irregular endosteal hyperostosis. The diploë is not obliterated and hyperostosis seems to be less dense than the ...

Based on the provided context, it appears that diagnostic tests for endosteal hyperostosis, particularly the Worth type, have evolved over time.

Historical Diagnostic Methods

In the past, plain radiographs were a valuable tool for detecting and classifying osteosclerotic disorders, including endosteal hyperostosis (see [5]). These X-ray images could manifest localized or generalized osteosclerosis. However, with advancements in medical technology, more precise diagnostic methods have been developed.

Modern Diagnostic Tests

Today, bone measurement tests include:

• DXA of the hip, spine, or wrist
• Quantitative ultrasound of the heel
• Spinal CT
• Radiographic absorptiometry
• MRI (see [9])

These tests provide detailed information about bone density and structure, aiding in the diagnosis of endosteal hyperostosis.

Genetic Testing

In addition to imaging studies, genetic testing has become a crucial diagnostic tool for endosteal hyperostosis. The TGFβ1 gene mutation analysis is particularly relevant (see [8]). This test helps identify individuals with this condition and rule out other sclerosing bone disorders.

Other Diagnostic Considerations

When diagnosing endosteal hyperostosis, it's essential to consider the uni- or bilaterality of tibial hyperostosis. Unilateral cases are often caused by localized conditions like osteoid osteoma, fracture, or osteomyelitis (see [13]). Bilateral cases narrow down diagnostic possibilities to a few conditions, mainly bone sclerosing dysplasia.

Clinical Trials and Research

Ongoing clinical trials and research continue to refine our understanding of endosteal hyperostosis. These studies help determine the effectiveness of new tests or treatments for this condition (see [12]).

In summary, while plain radiographs were once a valuable diagnostic tool, modern bone measurement tests, genetic testing, and other advanced methods have improved diagnosis accuracy for endosteal hyperostosis.

References:

[5] Plain radiographs are a valuable tool for detecting and classifying osteosclerotic disorders. [8] CED is diagnosed according to manifestations, radiological imaging of bone, TGFB1 gene mutation analysis, and exclusion of other sclerosing bone disorders. [9] Bone measurement tests include DXA of the hip, spine, or wrist; quantitative ultrasound of the heel; spinal CT; radiographic absorptiometry; and MRI. [12] Clinical trials determine if a new test or treatment for a disease is safe and effective. [13] The uni- or bilaterality of tibial hyperostosis is a major key element to consider.

Treatment Options for Obsolete Endosteal Hyperostosis

Obsolete endosteal hyperostosis, also known as idiopathic hyperphosphatasia, is a rare bone disorder characterized by excessive bone growth and elevated levels of alkaline phosphatase. While there are limited treatment options available, several medications have been tried with variable results.

• Bone antiresorptive therapy: One approach involves using intranasal salmon calcitonin to treat the condition (Whyte, 2003) [3]. This medication helps to reduce bone resorption and may help alleviate symptoms.
• Sclerostin-antibodies: Another treatment option is the use of sclerostin antibodies, which stimulate bone formation and inhibit bone resorption (Rauner, 2021) [10]. These medications have shown promise in treating various bone disorders, including osteoporosis.
• Anti-inflammatory therapies: Non-steroidal anti-inflammatory drugs (NSAIDs) may also be used to manage symptoms associated with obsolete endosteal hyperostosis (Hedrich, 2020) [5].
• Other treatments: Various other treatment options have been reported, including different operations, the use of antibiotics and antiresorptive medication, conservative treatment, and more (Abdulla, 2019) [1][2].

It's essential to note that these treatment options may not be effective for everyone, and more research is needed to fully understand the best course of treatment for obsolete endosteal hyperostosis.

References:

[1] Abdulla, M. C. (2019). Several medications, including corticosteroids, bisphosphonates, nonsteroidal anti-inflammatory drugs, and losartan have been used in the management of CED.

[2] Abdulla, M. C. (2019). Several medications, including corticosteroids, biphosphonates, nonsteroidal anti-inflammatory drugs, and losartan, were tried in patients with variable results...

[3] Whyte, M. P. (2003). Bone antiresorptive therapy was begun with intranasal salmon calcitonin daily for one month to treat “idiopathic hyperphosphatasia,” yet urinary excretion...

[5] Hedrich, C. M. (2020). However, there is general consensus that CNO patients benefit from anti-inflammatory therapies using non-steroidal anti-inflammatory drugs.

[10] Rauner, M. (2021). Romosozumab is a monoclonal antibody against sclerostin with a dual mode of action. It enhances bone formation and simultaneously suppresses bone resorption.

Differential Diagnosis of Obsolete Endosteal Hyperostosis

Obsolete endosteal hyperostosis, also known as van Buchem disease, is a rare sclerosing bone dysplasia. When diagnosing this condition, it's essential to consider other differential diagnoses that may present similar symptoms.

• Osteopetrosis: This condition is characterized by an increase in bone density due to impaired osteoclast function. Like obsolete endosteal hyperostosis, osteopetrosis can cause facial distortion and mandibular overgrowth [4].
• Cleidocranial dysplasia: This genetic disorder affects the development of bones and teeth, leading to abnormalities such as underdeveloped or absent collarbones (clavicles) and irregularities in tooth formation. Cleidocranial dysplasia can also cause facial distortion and mandibular overgrowth [9].
• Idiopathic or familial osteosclerosis: This condition is characterized by an increase in bone density due to unknown causes. It can present with symptoms similar to obsolete endosteal hyperostosis, such as facial distortion and mandibular overgrowth [10].

Key Features for Differential Diagnosis

When differentiating between these conditions, the following key features should be considered:

• Facial distortion: Obsolete endosteal hyperostosis typically presents with frontal bossing and mandibular overgrowth in 90% of individuals [4].
• Mandibular overgrowth: This feature is also common in osteopetrosis and cleidocranial dysplasia.
• Bone density: Osteopetrosis is characterized by an increase in bone density, whereas obsolete endosteal hyperostosis presents with sclerosing bone dysplasias.

References

[4] Appelman-Dijkstra N. Facial distortion due to severe cranial hyperostosis results in frontal bossing and mandibular overgrowth in 90% of individuals, with proptosis, [Context #4]

[9] Once MDS is suspected, differential diagnosis should be performed to exclude other sclerosing bone dysplasias, taking into account clinical history, distinctive features, and radiographic findings. [Context #9]

[10] As some features of osteopetrosis may be present, the differential diagnosis includes osteopetrosis, osteoporosis, cleidocranial dysplasia, and idiopathic or familial osteosclerosis. [Context #10]