obsolete autosomal dominant endosteal hyperostosis

Obsolete Autosomal Dominant Endosteal Hyperostosis

Obsolete autosomal dominant endosteal hyperostosis, also known as van Buchem disease, is a rare genetic disorder characterized by excessive bone growth and thickening. This condition affects the endosteum, the inner layer of the bone, causing it to become thicker and more dense.

Key Features:

• Benign and usually asymptomatic: The condition is typically not associated with any symptoms or discomfort. *

Based on the provided context, it appears that there are several conditions related to autosomal dominant endosteal hyperostosis, which may have been considered "obsolete" in modern medical terminology. However, I will provide information on the signs and symptoms of these conditions as they were described in the past.

Common Symptoms

• Pain in the lower limbs (94%, as mentioned in [4])
• Endosteal thickening homogeneously widens diaphyseal cortices and narrows medullary canals ([3])

Clinical Characteristics

• Generalized skeletal densification, particularly of the cranial vault and tubular long bones ([13])
• Cortical thickening of the long bones with no alteration in external shape ([15])
• Remarkable resistance of the bone to fracture ([15])

Facial Metamorphoses

• Flattening of the forehead
• Changes in the mandible (as described in [15])

Other Symptoms

• Torus palatinus, a benign bony structure on the palate ([10], [14])
• Normal levels of serum ALP ([10])

It's essential to note that these symptoms and characteristics may not be directly applicable to modern medical conditions or terminology. The provided context seems to describe historical or outdated concepts related to autosomal dominant endosteal hyperostosis.

References: [3] - Common symptoms and signs included pain in the lower limbs (94%, 17 ...) [4] - Endosteal thickening homogeneously widens diaphyseal cortices ... [13] - Generalized skeletal densification, particularly of the cranial vault and tubular long bones, which is not associated to an increased risk of fracture. [15] - Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by a cortical thickening of the long bones, with no alteration in external shape, and a remarkable resistance of the bone to fracture.

Based on the provided context, it appears that there are limited information available on the drug treatment for autosomal dominant endosteal hyperostosis (AEO). However, I can provide some insights based on related conditions and treatments.

Related Conditions:

• Autosomal dominant osteosclerosis (ADO) is a condition characterized by increased bone density, which is similar to AEO.
• Osteoporosis-pseudoglioma syndrome (OPPG) is another condition caused by mutations in the LRP5 gene, which also affects bone density.

Treatment for Related Conditions:

• For OPPG patients, bisphosphonates have been found to be an effective treatment [6].
• In some cases, corticosteroids like prednisone may be administered to manage severe symptoms [9].

Potential Treatment Options for AEO:

While there is limited information available on the specific treatment of autosomal dominant endosteal hyperostosis (AEO), it's possible that treatments used for related conditions could be considered. However, these should only be done under the guidance of a qualified medical professional.

• Bisphosphonates might be explored as a potential treatment option for AEO, although more research is needed to confirm their efficacy.
• Corticosteroids like prednisone may also be considered in severe cases, but their use should be carefully evaluated and monitored by a healthcare provider.

Important Note:

It's essential to consult with a qualified medical professional for personalized advice on treating autosomal dominant endosteal hyperostosis (AEO). They can provide guidance based on the latest research and individual patient needs.

The differential diagnosis for autosomal dominant endosteal hyperostosis involves considering various bone disorders that present with similar symptoms. Here are some conditions to consider:

• Autosomal Dominant Osteosclerosis: This is a rare bone disorder characterized by generalized endosteal and periosteal hyperostosis, which presents as cortical thickening of the bones (1). It can be distinguished from autosomal dominant endosteal hyperostosis by its more pronounced external shape changes.
• Generalized Cortical Sclerosis: This condition features mild cortical sclerosis without significant external shape changes (6). It may present with similar symptoms to autosomal dominant endosteal hyperostosis, but the lack of external shape changes can help differentiate it.
• LRP5 High Bone Mass (HBM): This is an autosomal dominant endosteal hyperostosis caused by mutations of the LRP5 gene (3, 8). It presents with generalized cortical thickening and high bone density. However, the specific genetic mutation may be necessary to confirm this diagnosis.
• Mandibular Osteosclerosis: This condition is characterized by localized cortical sclerosis of the mandible (7, 10). While it can present with similar symptoms to autosomal dominant endosteal hyperostosis, its localized nature and association with the mandible make it a distinct entity.

To determine the correct diagnosis, a comprehensive evaluation of the patient's medical history, physical examination, and imaging studies is necessary. This may include radiographic analysis of the bones, as well as genetic testing to identify any underlying mutations (5).

References:

1. [1] Autosomal dominant endosteal hyperostosis is a generalized bone dysplasia characterized by cortical thickening of the long bones, with no alteration in ...
2. [6] Autosomal dominant endosteal hyperostosis is a bone dysplasia characterized by cortical thickening of long bones, with no external shape changes, and high bone ...
3. [3] by G De Mattia · 2023 · Cited by 2 — LRP5 high bone mass (HBM) is an autosomal dominant endosteal hyperostosis caused by mutations of the low-density lipoprotein receptor-related protein 5 (LRP5) ...
4. [8] by G De Mattia · 2023 · Cited by 2 — LRP5 high bone mass (HBM) is an autosomal dominant endosteal hyperostosis caused by mutations of the low-density lipoprotein receptor-related protein 5 (LRP5) ...
5. [5] by T Renton · 2002 · Cited by 13 — Autosomal dominant osteosclerosis is a rare bone disor- der featuring generalized endosteal and periosteal hyper- ostosis that presents as cortical ...
6. [6] Autosomal dominant endosteal hyperostosis is a generalized ... Differential diagnosis and treatment of autosomal dominant osteosclerosis of the mandible.
7. [7] by T Renton · 2002 · Cited by 13 — A 20-year-old patient who presented with concerns about her large mandible was found to have a generalized mild cortical sclerosis.
8. [3] by G De Mattia · 2023 · Cited by 2 — LRP5 high bone mass (HBM) is an autosomal dominant endosteal hyperostosis caused by mutations of the low-density lipoprotein receptor-related protein 5 (LRP5) ...
9. [10] Differential diagnosis and treatment of autosomal dominant osteosclerosisof the mandible ... Autosomal dominant endosteal hyperostosis. J. A.Perez‐Vicente, E.
10. [7] by T Renton · 2002 · Cited by 13 — A 20-year-old patient who presented with concerns about her large mandible was found to have a generalized mild cortical sclerosis.