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obsolete enchondromatosis

ICD-10 Codes

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Description

Obsolete Enchondromatosis

Enchondromatosis, also known as Ollier disease, was previously referred to as "obsolete enchondromatosis" [1]. This term is no longer used in modern medical literature.

Characteristics

The condition was characterized by the growth of multiple enchondromas, which are benign cartilage-producing lesions of bone [3]. These lesions typically involved the long bones and appendicular skeleton. Enchondromatosis was a rare disorder that primarily affected the bones of the extremities, spine, or pelvis.

Symptoms

The clinical manifestations of enchondromatosis often appeared in the first decade of life. The condition was associated with secondary abnormal bone growth and skeletal deformities [14].

Prevalence

The estimated prevalence of Ollier disease (enchondromatosis) is 1/100,000 [14]. This suggests that the condition is extremely rare.

It's worth noting that enchondromatosis is still referred to as a non-familial disorder characterized by the presence of multiple enchondromas. The term "obsolete" was likely used to indicate that it is no longer considered a valid or current medical term.

References:

[1] Context result 1 [3] Context result 3 [14] Context result 14

Additional Characteristics

  • Multiple enchondromas
  • Benign cartilage-producing lesions of bone
  • Rare disorder affecting extremities, spine, or pelvis
  • Associated with secondary abnormal bone growth and skeletal deformities

Signs and Symptoms

Diagnostic Tests

Based on the provided context, it appears that diagnostic tests for enchondromatosis have evolved over time. Here are some outdated diagnostic methods mentioned:

  • Radionuclide bone scanning: This method was used to assess lesions depicted on radiographs or MRIs that were presumed to be enchondromas (Search Result 2).
  • Plain radiographs: These were considered the diagnostic imaging standard for enchondromatosis, demonstrating osteolytic lesions with sclerotic margins (Search Result 8).

However, it's essential to note that these methods may not be as commonly used or recommended today. Modern diagnostic approaches likely involve more advanced imaging techniques and a combination of clinical evaluation and radiological findings.

If you're looking for information on current diagnostic tests for enchondromatosis, I'd be happy to help with that!

Additional Diagnostic Tests

  • Plain radiographs
  • Radionuclide bone scanning

Treatment

Based on the provided context, it appears that there is limited information available on the drug treatment of enchondromatosis.

However, I can provide some insights based on the search results:

  • According to result 14, "Compared with other drugs used in anesthesiology , such as pamaquine , elvitegravir tablets have an improved safety profile and fewer adverse side effects." However, this statement does not specifically mention enchondromatosis or its treatment.
  • Result 15 mentions that "Unfortunately, the literature reports an absence of effective drug therapy for Ollier disease, leaving surgical intervention as the primary option."

It's worth noting that enchondromatosis is a rare and complex condition, and there may be limited research available on its treatment. However, based on the provided context, it seems that surgery is currently the most common approach to treating enchondromatosis.

Current Treatment Status:

  • Surgery appears to be the primary treatment option for enchondromatosis.
  • There is a lack of effective drug therapy for Ollier disease (enchondromatosis).
  • Surgical intervention may be necessary to prevent malignant transformation and alleviate symptoms associated with enchondromatosis.

References:

[15] HD Kramer, "Unfortunately, the literature reports an absence of effective drug therapy for Ollier disease, leaving surgical intervention as the primary option." [15] [14] No specific mention of enchondromatosis treatment in this result.

Recommended Medications

  • Surgery
  • Limited effective drug therapy available

💊 Drug information is sourced from ChEBI (Chemical Entities of Biological Interest) database. Always consult with a healthcare professional before starting any medication. Click on any medication name for detailed information.

Differential Diagnosis

Based on the provided context, it appears that enchondromatosis, also known as Ollier disease, is a rare skeletal disorder characterized by the growth of multiple enchondromas.

Differential diagnosis for enchondromatosis:

  • Maffucci syndrome: A nonhereditary congenital disorder characterized by multiple enchondromas and soft-tissue hemangiomas [5][9].
  • Chordoma: A rare malignant bone tumor that can present similarly to enchondromatous lesions [1].
  • Central atypical cartilaginous tumor / chondrosarcoma, grade 1 (ACT / CS1): Can be difficult to differentiate from enchondroma based on histology, but is generally more aggressive and hypercellular [12][13].
  • Low-grade chondrosarcoma: Can also be challenging to distinguish from enchondroma, especially in cases where the tumor is small or has a similar appearance under histological examination [13].

Other conditions that may present similarly:

  • Parkes-Weber Syndrome: A rare vascular disorder characterized by multiple hemangiomas and enchondromas [6].
  • Klippel-Trenaunay Syndrome: Another rare condition involving vascular malformations, which can be difficult to distinguish from enchondromatosis [6].

Imaging modalities:

  • MRI: Can be helpful in distinguishing between enchondroma and other conditions, such as low-grade chondrosarcoma or central atypical cartilaginous tumor / chondrosarcoma, grade 1 (ACT / CS1) [14].
  • Plain radiograph and CT: May also be useful in evaluating the extent of disease and ruling out other potential diagnoses [14].

It's essential to note that a definitive diagnosis of enchondromatosis often requires a combination of clinical evaluation, imaging studies, and histopathological examination. A thorough understanding of these differential diagnoses can aid in accurate diagnosis and management of this rare condition.

References:

[1] Context result 1 [5] Context result 5 [9] Context result 9 [12] Context result 12 [13] Context result 13 [14] Context result 14

Additional Differential Diagnoses

Additional Information

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http://www.w3.org/2002/07/owl#Class

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