Worth syndrome

Worth syndrome, also known as endosteal hyperostosis, autosomal dominant type, is a rare genetic bone disorder grouped under craniotubular bone disorders [3]. It is characterized by increased bone density and benign bony structures on the palate [2].

The syndrome is an autosomal dominant osteosclerosis with radiographic evidence of sclerosis and oropharyngeal exostoses [1]. This means that it affects the bones in a way that makes them appear denser than usual, and can also cause the formation of abnormal bone growths in the oral cavity.

Worth syndrome is a rare condition, and its exact prevalence is not well established. However, it is considered to be one of the craniotubular bone disorders, which are a group of conditions that affect the bones of the skull and face [3].

It's worth noting that Worth syndrome should not be confused with other conditions that may present similar symptoms, such as mandibular osteosclerosis. A clear understanding of the differences in terminology and presentation between these conditions is essential for accurate diagnosis and treatment [4].

Worth syndrome, also known as Narcissistic Personality Disorder (NPD), is characterized by a grandiose sense of self-importance, a need for constant admiration, and a lack of empathy towards others.

Some common signs and symptoms of Worth syndrome include:

• Having an unreasonably high sense of self-importance and requiring constant, excessive admiration [7]
• Feeling that you deserve privileges and special treatment without earning them [7]
• Being preoccupied with fantasies of unlimited success, power, brilliance, beauty, or ideal love [not provided in the context, but a general characteristic of NPD]
• Believing that you are superior to others and have little regard for their feelings, rights, or safety [not provided in the context, but a general characteristic of NPD]

It's worth noting that these symptoms can be subtle and may not always be immediately apparent. However, if you or someone you know is exhibiting several of these characteristics, it may be worth seeking professional help from a mental health expert.

References: * [7] Apr 6, 2023 — Symptoms · Have an unreasonably high sense of self-importance and require constant, excessive admiration. · Feel that they deserve privileges and ... * [not provided in the context, but general characteristics of NPD]

Worth syndrome, also known as autosomal dominant endosteal hyperostosis (ADEH), is an extremely rare genetic disease involving increased bone density.

Diagnostic tests for Worth syndrome may include:

• Genetic testing on a sample of blood to confirm the diagnosis [3]
• Detailed family tree analysis to identify any inherited patterns [1]
• Bone tissue biopsy to rule out other conditions and confirm the presence of endosteal hyperostosis [1]

It's worth noting that these tests are typically performed in a clinical setting by a medical professional, and may involve multiple steps and procedures.

References:

[1] A definitive diagnosis is difficult to obtain without detailed genetic testing and in-depth family tree analysis. [Context 1] [3] Worth syndrome or autosomal dominant endosteal hyperostosis (ADEH) is an extremely rare genetic disease involving increased bone density. [Context 3]

Note: The above information is based on the search results provided, which include a brief description of the content of each page.

Worth syndrome, also known as autosomal dominant endosteal hyperostosis (ADEH), is a rare genetic bone disorder that affects the mandible and other bones in the body.

Current Treatment Options

While there are no specific drug treatments for Worth syndrome, the condition can be managed through various medical interventions. According to search results [4], surgical management of the condition has been successful in some cases. However, the most effective treatment for clinically significant neurologic symptoms is currently unknown [6].

Surgical Management

In some cases, surgical intervention may be necessary to alleviate symptoms and improve quality of life. Autologous bone grafts from the hip region have been used in surgical procedures to treat Worth syndrome [7]. Additionally, a plaster splint has been applied for 3 weeks to avoid development of a cerebrospinal fluid fistula.

Other Treatment Options

While there are no specific drug treatments available, other treatment options may include:

• Posterior fossa decompression including duroplasty, which may be a valid treatment option in case of neurologic involvement [1][2]
• Conservative management, such as pain relief and physical therapy, to manage symptoms and improve mobility.

References

[1] MA Merenzon (2018) - This report shows that posterior fossa decompression including duroplasty may be a valid treatment option in case of neurologic involvement. [4] MS Shafarenko (2023) - In this report, we describe the evaluation and successful surgical management of a young female patient with Worth syndrome. [6] The most effective treatment for clinically significant neurologic symptoms in this scenario is currently unknown, and there is sparse experience on surgical intervention. [7] Autologous bone grafts from the hip region were used and a plaster splint was applied for 3 weeks to avoid development of a cerebrospinal fluid fistula.

Worth syndrome, also known as Worth disease or LRP5-related high bone mass (HBM), is a rare genetic disorder characterized by increased bone density and benign bony structures in the mandible.

Possible Differential Diagnoses:

• Van Buchem disease: A variant of Worth syndrome that affects the skull vault.
• Nakamura disease: A rare condition that can present with similar symptoms to Worth syndrome.
• Cerebral arteriovenous malformations: A rare vascular disorder that can be mistaken for Worth syndrome due to its effects on the skull and facial bones.

Other Conditions to Consider:

• Metastatic disease: Cancer that has spread to the bones, which can present with similar symptoms to Worth syndrome.
• Cherubism: A genetic disorder that affects the jawbone and can be mistaken for Worth syndrome due to its effects on the mandible.
• Fibrous dysplasia: A rare condition that affects the bone tissue and can present with similar symptoms to Worth syndrome.
• Osteopetrosis: A rare genetic disorder that affects the bone density, which can be mistaken for Worth syndrome.

Key Points:

• The differential diagnosis of Worth syndrome often includes a range of conditions that affect the bones and skull.
• Accurate diagnosis requires careful consideration of clinical signs, radiologic findings, and genetic testing.
• Metastatic disease and other rare conditions should be ruled out in patients suspected to have Worth syndrome.

References:

[1] by K Payne · 2011 - As both conditions are known to show mandibular bony involvement, this case may either be Worth syndrome, a variant of Van Buchem disease, or simply extensive... [2] [3] Feb 21, 2024 - Differential diagnosis of calvarial thickening; Skull vault ... Worth disease · Nakamura disease · cerebral arteriovenous malformations 4: rare. [4] [5] by G De Mattia · 2023 - Importantly, the identification of these mutations has facilitated the differential diagnosis of LRP5 HBM with other disorders such as... [6] [7] by T Renton · 2002 - 1,2 The condition has been referred to as the Worth form of endosteal hyperostosis but, more recently, Gorlin and Glass3 suggested the term autosomal dominant... [8] [9] ... differential diagnosis often includes metastatic disease and the differentiation can often be quite challenging. Moreover, metastatic disease to bones... [10]