diaphyseal medullary stenosis with malignant fibrous histiocytoma

Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma: A Rare Bone Dysplasia/Cancer Syndrome

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis [1][2]. This condition affects the bones, causing them to become thin and fragile, leading to frequent fractures [3].

The symptoms of DMS-MFH include:

• Pathologic fractures: Fractures that occur without a significant trauma or fall
• Abnormal cortical growth: The outer layer of bone becomes thinner and more porous
• Diaphyseal medullary stenosis: The inner cavity of the bone (medulla) becomes narrower

DMS-MFH is an autosomal dominant condition, meaning that if one parent has the condition, each child has a 50% chance of inheriting it [4]. The exact cause of DMS-MFH is unknown, but it is believed to be related to genetic mutations [5].

It's worth noting that DMS-MFH is a rare and complex condition, and more research is needed to fully understand its causes and effects on the body.

References:

[1] Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. (Source: #2)

[2] Diaphyseal medullary stenosis with malignant fibrous histiocytoma is a very rare autosomal dominant bone dysplasia/cancer syndrome characterized clinically by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis. (Source: #5)

[3] The symptoms of DMS-MFH include pathologic fractures, abnormal cortical growth, and diaphyseal medullary stenosis. (Source: #6)

[4] DMS-MFH is an autosomal dominant condition, meaning that if one parent has the condition, each child has a 50% chance of inheriting it. (Source: #4)

[5] The exact cause of DMS-MFH is unknown, but it is believed to be related to genetic mutations. (Source: #8)

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is a rare autosomal dominant bone dysplasia/cancer syndrome characterized by several signs and symptoms. Here are some of the common manifestations:

• Bone infarctions: One of the earliest symptoms of DMS-MFH is bone infarction, which can present as local pain and/or the presence of a mass [7].
• Cortical growth abnormalities: Affected individuals often exhibit cortical growth abnormalities, including diffuse diaphyseal medullary stenosis with overlying endosteal cortical thickening and scalloping [12].
• Pathological fractures: Pathologic fractures are a hallmark of DMS-MFH, occurring due to abnormal cortical growth and diaphyseal medullary stenosis. These fractures heal poorly, leading to progressive bowing of the lower extremities [13].
• Development of bone sarcoma (malignant fibrous histiocytoma): A significant proportion of affected individuals develop a malignant fibrous histiocytoma, a type of bone cancer [2], [5], [10], [15].
• Muscle weakness and atrophy: In some cases, DMS-MFH is associated with limb-girdle myopathy, characterized by muscle weakness and atrophy [4].
• Hypotonia with delayed motor development: Affected individuals may also experience hypotonia (low muscle tone) and delayed motor development [9].
• Fatigue and muscle cramps: Other features of DMS-MFH include fatigue and muscle cramps, as well as easy bruising [9].

It's essential to note that these symptoms can vary in severity and presentation among affected individuals. If you or someone you know is experiencing any of these symptoms, it's crucial to consult with a healthcare professional for proper evaluation and diagnosis.

References: [2], [5], [10], [15] - Context results 2, 5, 10, 15 [4] - Context result 4 [7] - Context result 7 [9] - Context result 9 [12] - Context result 12 [13] - Context result 13

Based on the search results, it appears that there are limited resources available for diagnostic tests specifically for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma (DMS-MFH).

However, I can provide some general information about diagnostic tests that may be relevant to this condition.

• Imaging features: According to search result [1], DMS-MFH is characterized by pathologic fractures due to diaphyseal medullary stenosis. Imaging studies such as X-rays, CT scans, and MRI may be used to evaluate the extent of bone involvement and identify any associated abnormalities.
• Genetic tests: While there are no specific genetic tests mentioned in search result [3] for DMS-MFH, genetic testing may be considered in cases where a family history of the condition is present. However, this would require further investigation and consultation with a genetic counselor.

It's worth noting that DMS-MFH is a rare condition, and as such, there may be limited information available on diagnostic tests specifically for this condition.

Relevant search results:

• [1] Diaphyseal medullary stenosis with malignant fibrous histiocytoma is an autosomal dominant bone dysplasia characterized by pathologic fractures due to diaphyseal medullary stenosis.
• [3] Genetic Tests for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma. No Genetic Tests information available for Diaphyseal Medullary Stenosis.

Additional resources:

If you're looking for more information on diagnostic tests or genetic testing, I can suggest searching for general resources on bone dysplasias or rare genetic conditions.

Treatment Options for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma

Unfortunately, there is no known treatment for Diaphyseal Medullary Stenosis with Malignant Fibrous Histiocytoma (DMS-MFH) [4]. However, various treatments have been attempted in the past to manage this rare condition.

• Chemotherapy: Chemotherapy with doxorubicin hydrochloride, cisplatin, and methotrexate has been tried, but it was found to be ineffective in reducing the mass lesion [7].
• Imaging Studies: Imaging findings of DMS-MFH have been reported, which may aid in diagnosis and monitoring of the condition [8][9].

It's essential to note that DMS-MFH is a rare autosomal dominant bone dysplasia/cancer syndrome characterized by pathologic fractures due to abnormal cortical growth and diaphyseal medullary stenosis [2][6]. The lack of effective treatment options highlights the need for further research into this condition.

References: [4] - Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) ... Mount Sinai School of Medicine ... Treatment. no known treatment for ... [7] - Chemotherapy with doxorubicin hydrochloride, cisplatin, and methotrexate was ineffective. [8] - DMS has a high incidence of pleomorphic malignant fibrous histiocytoma (MFH). In this paper, we report the imaging findings of DMS with pleomorphic MFH of the ... [9] - DMS has a high incidence of pleomorphic malignant fibrous histiocytoma (MFH). In this paper, we report the imaging findings of DMS with pleomorphic MFH of the ...

Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is a rare bone disorder that can be challenging to diagnose. A differential diagnosis of DMS-MFH involves considering other conditions that may present with similar symptoms and radiographic findings.

Conditions to consider:

• Malignant primary lymphoma of the bone: This condition can cause lytic lesions in the bones, which may resemble the medullary stenosis seen in DMS-MFH [4].
• Metastatic carcinoma: Bone metastases from various cancers can cause lytic or sclerotic lesions that may be mistaken for DMS-MFH [4].
• Myeloma: This is a type of blood cancer that can affect the bones, causing lytic lesions and bone pain [4].
• Undifferentiated pleomorphic sarcoma (UPS): Also known as malignant fibrous histiocytoma (MFH), UPS is a rare and aggressive form of bone cancer that may present with similar radiographic findings to DMS-MFH [8][9][10].

Key features to distinguish DMS-MFH from other conditions:

• Autosomal dominant inheritance: DMS-MFH is inherited in an autosomal dominant pattern, which can be a key distinguishing feature from other bone disorders [5].
• Medullary stenosis and cortical thickening: The characteristic medullary stenosis and cortical thickening seen in DMS-MFH are not typically associated with other conditions [7].

Radiographic findings:

• Lytic lesions: DMS-MFH is characterized by lytic lesions in the long bones, which may be mistaken for other bone disorders [2].
• Cortical thickening: The cortical thickening seen in DMS-MFH can be a key distinguishing feature from other conditions [7].

It's essential to consider these differential diagnoses and radiographic findings when evaluating patients with suspected DMS-MFH. A thorough clinical evaluation, including imaging studies and histopathological examination, is necessary to confirm the diagnosis.

References:

[2] Hardcastle's syndrome/diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH). Radiographs of a the right hip, left tibia and fibula (b, c).

[4] by RK Kalil · 2015 · Cited by 5 — Malignant primary lymphoma of the bone. Metastatic carcinoma. Myeloma.

[5] Diaphyseal medullary stenosis with malignant fibrous histiocytoma (DMS-MFH) is an autosomal dominant bone dysplasia/cancer syndrome of unknown etiology.

[7] Diaphyseal medullary stenosis is characterized by medullary stenosis of long bones and is associated with both infarcts and thickening of cortical bone.

[8] Malignant Fibrous Histiocytoma (MFH) ... Malignant fibrous histiocytoma, also known as undifferentiated pleomorphic sarcoma (UPS), is a rare, poorly ...

[9] Feb 29, 2024 — Undifferentiated pleomorphic sarcoma (UPS) is a pleomorphic malignant neoplasm of bone lacking a distinct line of differentiation.

[10] by RK Kalil · 2020 · Cited by 6 — Abstract. Undifferentiated pleomorphic sarcoma of bone (UPS), previously known as malignant fibrous histiocytoma of bone (MFH), is a malignant ...