calvarial doughnut lesions with bone fragility

Calvarial Doughnut Lesions with Bone Fragility (CDL)

Calvarial doughnut lesions with bone fragility, also known as CDL, is a rare genetic disorder characterized by low bone mineral density and multiple fractures since childhood. This condition is associated with the presence of sclerotic doughnut-shaped lesions in the cranial bones.

Key Features:

• Low bone mineral density
• Multiple spinal and peripheral fractures beginning in childhood
• Sclerotic doughnut-shaped lesions in the cranial bones
• Elevated serum alkaline phosphatase levels
• Osteopenia (reduced bone density)

Causes and Genetics: CDL is an autosomal dominant genetic disease, meaning that a single copy of the mutated gene is enough to cause the condition. The exact cause of CDL is not fully understood, but it is believed to be related to mutations in the SGMS2 gene.

Symptoms and Complications:

• Multiple fractures since childhood
• Sclerotic doughnut-shaped lesions in the cranial bones
• Elevated serum alkaline phosphatase levels
• Osteopenia (reduced bone density)
• Dental caries

References: 1. [1] Calvarial doughnut lesions with bone fragility is characterized by low bone mineral density, multiple spinal and peripheral fractures beginning in childhood, and sclerotic doughnut-shaped lesions in the cranial bones.[4] 2. [3] Disease definition. A rare primary bone dysplasia with decreased bone density disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (manifesting with cranial lumps) associated with numerous pathologic fractures, elevated serum alkaline phosphatase levels and osteopenia.[3] 3. [6] Calvarial Doughnut Lesions with Bone Fragility (CDL) is an autosomal dominant genetic disease, characterized by low bone mineral density, multiple fractures since childhood, and sclerotic doughnut-shaped lesions in the cranial bones.[6] 4. [8] Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant skeletal disorder characterized by low-bone mineral density, ...[8]

Note: The above information is based on the search results provided and may not be an exhaustive or definitive description of CDL.

Calvarial Doughnut Lesions with Bone Fragility (CDL) Signs and Symptoms

Calvarial doughnut lesions with bone fragility, also known as CDL, is a rare genetic disorder characterized by multiple doughnut-shaped lesions in the bones of the cranium. The condition is associated with fragile bones and can lead to various symptoms.

Key Signs and Symptoms:

• Multiple doughnut-shaped lesions: These lesions are typically found in the bones of the cranium and resemble the shape of a doughnut [1].
• Fragile bones: Individuals with CDL often experience multiple fractures, particularly in the spine and long bones [2].
• Low bone mineral density: This is a hallmark feature of CDL, indicating decreased bone density and increased risk of fractures [3].
• Multiple spinal and peripheral fractures: These fractures can occur due to the fragile nature of the bones affected by CDL [4].

Additional Symptoms:

• Sclerotic doughnut-shaped lesions: In some cases, these lesions may be surrounded by a sclerotic (hardened) halo, which can indicate increased bone density in certain areas [5].
• Neonatal onset of fractures: Some individuals with CDL may experience severe short stature, marked cranial sclerosis, and spondylometaphyseal dysplasia, particularly if the condition is present at birth [6].

References:

[1] Merkuryeva, E. (2023). Calvarial doughnut lesions with bone fragility. [Context result 1]

[2] Basalom, S. (2021). Calvarial Doughnut Lesions with Bone Fragility (CDL). [Context result 4]

[3] Merkuryeva, E. (2023). Calvarial doughnut lesions with bone fragility. [Context result 7]

[4] Basalom, S. (2021). Calvarial Doughnut Lesions with Bone Fragility (CDL). [Context result 5]

[5] Merkuryeva, E. (2023). Calvarial doughnut lesions with bone fragility. [Context result 6]

[6] Merkuryeva, E. (2023). Calvarial doughnut lesions with bone fragility. [Context result 9]

Diagnostic Methods for Calvarial Doughnut Lesions with Bone Fragility

Calvarial doughnut lesions with bone fragility (CDL-BFS) is a rare primary bone dysplasia characterized by decreased bone density, multiple fractures, and specific calvarial lesions. Diagnosing this condition involves a combination of clinical evaluation, imaging studies, and genetic testing.

Imaging Studies

• MRI Technology: MRI scans can detect abnormalities in the skull, including doughnut-shaped hyperostotic or osteosclerotic calvarial lesions (1).
• X-rays: Standard X-rays can diagnose characteristic skull bone lesions, but may not detect small formations in the diploic space (2).
• Bone Biopsies: Bone biopsies may be performed to confirm the diagnosis and rule out other conditions.

Genetic Testing

• Next-Generation Genetic Testing: Next-generation sequencing can identify genetic mutations associated with CDL-BFS, including pathogenic variants (12).

Other Diagnostic Methods

• **Clinical

Calvarial doughnut lesions (CDL) with bone fragility is a rare autosomal dominant genetic disorder characterized by multiple doughnut-shaped hyperostotic or osteosclerotic lesions of the calvaria, low bone mineral density, and multiple spinal and peripheral fractures beginning in childhood [5][7].

According to available information, treatment for established osteoporosis aims at alleviating symptoms and reducing the risk of further fractures. Currently available drugs include:

• Vitamin D supplementation
• Pamidronate (Aredia) treatment
• Alendronate (Fosamax) treatment
• Teriparatide treatment

These medications are typically prescribed to patients with CDL, especially during childhood and adolescence, to manage bone fragility and prevent fractures [1][4].

However, it's essential to note that the material provided is not intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment [3][9]. A comprehensive treatment plan for CDL with bone fragility would require consultation with a qualified healthcare provider.

References: [1] Basalom, S. (2021) [4] Basalom, S. (2021) [5] Merkuryeva, E. (2023) [7] Merkuryeva, E. (2023)

Calvarial doughnut lesions with bone fragility (CDL) is a rare autosomal dominant genetic disorder characterized by low bone mineral density, multiple fractures, and skeletal dysplasia [1]. When considering the differential diagnosis for CDL, several conditions should be taken into account.

Skeletal Dysplasias

• Spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant condition that can present with similar features to CDL, including low bone mineral density and skeletal abnormalities [2].
• Other skeletal dysplasias, such as osteogenesis imperfecta, may also be considered in the differential diagnosis of CDL.

Osteoporosis

• Early-onset osteoporosis is a common condition that can present with similar features to CDL, including low bone mineral density and frequent fractures [7].

Other Conditions

• Calvarial doughnut lesions have been reported in association with other conditions, such as spondylometaphyseal dysplasia [6].
• Dental caries, undeveloped teeth, and multiple pathologic fractures are also features that can be seen in CDL [8].

It is essential to note that a comprehensive evaluation of the patient's medical history, physical examination, and diagnostic imaging (e.g., radiographs, CT scans) is necessary to establish an accurate diagnosis.

References:

[1] S Basalom · 2021 · Cited by 4 — Calvarial Doughnut Lesions with Bone Fragility (CDL) is an autosomal dominant genetic disease...

[2] by E Merkuryeva · 2023 · Cited by 1 — Calvarial doughnut lesions (CDL) with bone fragility with or without spondylometaphyseal dysplasia (MIM: #126550) is a rare autosomal dominant...

[7] Oct 22, 2024 — The disease manifests as early‐onset osteoporosis or a more severe skeletal dysplasia with low bone mineral density, frequent fractures, long‐ ...

[8] Oct 26, 2019 — This entity characterises by multiple calvarial doughnut lesions, with lumps on the head, many pathologic fractures, dental caries, undeveloped...