ICD-10: D48.116

Desmoid tumor of lower extremity and pelvic girdle

Clinical Information

Inclusion Terms

  • Desmoid tumor of buttock

Additional Information

Diagnostic Criteria

Diagnosing a desmoid tumor, particularly one classified under ICD-10 code D48.116 (Desmoid tumor of lower extremity and pelvic girdle), involves a combination of clinical evaluation, imaging studies, and histopathological examination. Below are the key criteria and steps typically used in the diagnostic process:

Clinical Evaluation

  1. Symptom Assessment: Patients may present with localized pain, swelling, or a palpable mass in the lower extremity or pelvic region. Symptoms can vary based on the tumor's size and location.

  2. Medical History: A thorough medical history is essential, including any previous surgeries, trauma, or familial predispositions, as desmoid tumors can be associated with conditions like familial adenomatous polyposis (FAP).

Imaging Studies

  1. Ultrasound: This initial imaging modality can help assess the characteristics of the mass, including its size, location, and relationship to surrounding structures.

  2. Magnetic Resonance Imaging (MRI): MRI is the preferred imaging technique for desmoid tumors. It provides detailed images of soft tissue and can help determine the extent of the tumor, its margins, and any infiltration into adjacent tissues.

  3. Computed Tomography (CT) Scan: While less commonly used than MRI, CT scans can also be helpful, particularly in assessing the tumor's relationship with bony structures.

Histopathological Examination

  1. Biopsy: A definitive diagnosis often requires a biopsy. This can be performed via needle aspiration or excisional biopsy, depending on the tumor's size and location.

  2. Microscopic Analysis: Pathological examination of the biopsy specimen is crucial. Desmoid tumors are characterized by:
    - Fibroblastic proliferation: The presence of spindle-shaped fibroblasts.
    - Lack of significant atypia: Unlike malignant tumors, desmoid tumors typically do not show significant cellular atypia.
    - Infiltrative growth pattern: They often invade surrounding tissues, which can complicate surgical resection.

  3. Immunohistochemistry: Additional tests may be performed to confirm the diagnosis, including staining for specific markers such as beta-catenin, which is often mutated in desmoid tumors.

Differential Diagnosis

It is important to differentiate desmoid tumors from other soft tissue tumors, such as sarcomas or benign lesions like fibromas. This differentiation is critical for determining the appropriate management and treatment options.

Conclusion

The diagnosis of a desmoid tumor of the lower extremity and pelvic girdle (ICD-10 code D48.116) relies on a comprehensive approach that includes clinical evaluation, imaging studies, and histopathological confirmation. Given the tumor's unique characteristics and behavior, accurate diagnosis is essential for effective management and treatment planning. If you have further questions or need more specific information, feel free to ask!

Description

Desmoid tumors, also known as aggressive fibromatosis, are benign but locally aggressive tumors that arise from connective tissue. They can occur in various locations throughout the body, including the lower extremities and pelvic girdle. The ICD-10 code D48.116 specifically designates a desmoid tumor located in the lower extremity and pelvic girdle.

Clinical Description of Desmoid Tumors

Characteristics

  • Benign Nature: Desmoid tumors are classified as benign neoplasms, meaning they do not metastasize to distant sites. However, they can invade surrounding tissues and structures, leading to significant morbidity.
  • Growth Patterns: These tumors can grow slowly or rapidly and may vary in size from a few centimeters to larger masses. Their growth is often unpredictable, and they can recur after surgical removal.

Symptoms

  • Local Symptoms: Patients may experience pain, swelling, or a palpable mass in the affected area. The symptoms can vary based on the tumor's size and location.
  • Functional Impairment: Depending on their location, desmoid tumors can cause functional impairment, particularly if they compress nerves or blood vessels.

Diagnosis

  • Imaging Studies: MRI and CT scans are commonly used to assess the size, location, and extent of the tumor. These imaging modalities help differentiate desmoid tumors from other soft tissue masses.
  • Biopsy: A definitive diagnosis is often made through a biopsy, which reveals the characteristic histological features of desmoid tumors, including spindle-shaped fibroblasts and a collagen-rich stroma.

ICD-10 Code D48.116

Specifics of the Code

  • Code Description: The ICD-10 code D48.116 refers specifically to a desmoid tumor located in the lower extremity and pelvic girdle. This classification is part of the broader category of "Neoplasms of uncertain behavior" under the D48 codes.
  • Clinical Use: This code is utilized in medical billing and coding to accurately document the diagnosis of a desmoid tumor in the specified anatomical locations, facilitating appropriate treatment and management.

Treatment Options

  • Surgical Intervention: Surgical excision is often the primary treatment for desmoid tumors, especially if they are symptomatic or causing functional impairment. However, complete removal can be challenging due to the tumor's infiltrative nature.
  • Non-Surgical Approaches: In cases where surgery is not feasible or the tumor is asymptomatic, observation, physical therapy, or medications (such as nonsteroidal anti-inflammatory drugs or hormonal therapies) may be considered.

Conclusion

Desmoid tumors, particularly those coded as D48.116, represent a unique clinical challenge due to their benign yet aggressive behavior. Understanding their characteristics, symptoms, and treatment options is crucial for effective management. Accurate coding using ICD-10 is essential for proper documentation and reimbursement in healthcare settings. If you have further questions about desmoid tumors or their management, consulting with a healthcare professional specializing in oncology or surgical intervention is advisable.

Clinical Information

Desmoid tumors, also known as aggressive fibromatosis, are benign but locally aggressive tumors that can arise in various locations, including the lower extremities and pelvic girdle. The ICD-10 code D48.116 specifically refers to desmoid tumors located in these areas. Understanding the clinical presentation, signs, symptoms, and patient characteristics associated with this condition is crucial for diagnosis and management.

Clinical Presentation

Desmoid tumors typically present as painless masses that can vary in size. They may be found in the soft tissues of the lower extremity or pelvic girdle, often arising from fascia or muscle. The tumors can be deep-seated and may not be immediately noticeable, leading to a delay in diagnosis.

Signs and Symptoms

  1. Painless Mass: The most common initial symptom is a palpable, firm, and non-tender mass in the affected area. Patients may notice swelling or a lump that has gradually increased in size.

  2. Local Symptoms: Depending on the tumor's size and location, patients may experience local symptoms such as:
    - Pain or Discomfort: While desmoid tumors are often painless, they can cause discomfort or pain if they compress nearby structures, such as nerves or blood vessels.
    - Limited Range of Motion: If the tumor is located near a joint, it may restrict movement or cause stiffness.

  3. Functional Impairment: In cases where the tumor affects the pelvic girdle, patients may experience difficulties with mobility, walking, or performing daily activities.

  4. Recurrence: Desmoid tumors have a tendency to recur after surgical excision, which can lead to ongoing monitoring and management challenges.

Patient Characteristics

Desmoid tumors can occur in individuals of any age, but certain characteristics and risk factors are noteworthy:

  1. Demographics: They are more commonly diagnosed in young adults, particularly those between the ages of 15 and 60. There is a slight female predominance in some studies.

  2. Genetic Factors: Patients with familial adenomatous polyposis (FAP) syndrome are at a significantly higher risk for developing desmoid tumors. This genetic condition predisposes individuals to various types of tumors, including desmoids.

  3. History of Trauma or Surgery: Some patients report a history of trauma or surgical procedures in the area where the tumor develops, suggesting a potential link between injury and tumor formation.

  4. Hormonal Influences: There is some evidence to suggest that hormonal factors may play a role in the development of desmoid tumors, as they can be influenced by estrogen levels. This is particularly relevant in women, as the tumors may be more prevalent during reproductive years.

Conclusion

Desmoid tumors of the lower extremity and pelvic girdle, classified under ICD-10 code D48.116, present primarily as painless masses that can lead to local symptoms and functional impairment. Understanding the clinical presentation, signs, symptoms, and patient characteristics is essential for timely diagnosis and effective management. Given their tendency to recur, ongoing monitoring and a multidisciplinary approach to treatment are often necessary to address the challenges posed by these tumors.

Approximate Synonyms

Desmoid tumors, classified under the ICD-10 code D48.116, are benign but aggressive fibrous tumors that can occur in various locations, including the lower extremities and pelvic girdle. Understanding alternative names and related terms for this condition can enhance clarity in medical documentation and communication. Below are some alternative names and related terms associated with desmoid tumors, particularly in the context of the ICD-10 classification.

Alternative Names for Desmoid Tumors

  1. Desmoid Fibroma: This term emphasizes the fibrous nature of the tumor, highlighting its composition.
  2. Aggressive Fibromatosis: This name reflects the tumor's aggressive behavior despite being benign, indicating its potential for local invasion.
  3. Desmoid-Type Fibromatosis: This term is often used in pathology reports and literature to specify the type of fibromatosis that is characterized by desmoid tumors.
  4. Deep Fibromatosis: This term is used to describe the deep-seated nature of these tumors, which can occur in the abdominal wall, limbs, and other deep tissues.
  1. Benign Neoplasm: Desmoid tumors are classified as benign neoplasms, which are non-cancerous growths that can still cause significant local issues.
  2. Soft Tissue Tumor: This broader category includes various types of tumors that arise from soft tissues, including muscles, fat, and connective tissues.
  3. Fibrous Tumor: A general term that can refer to any tumor composed primarily of fibrous tissue, including desmoid tumors.
  4. Tumor of Uncertain Behavior: In some classifications, desmoid tumors are noted for their uncertain behavior due to their potential for local recurrence.

Clinical Context

Desmoid tumors are often associated with conditions such as familial adenomatous polyposis (FAP), a genetic disorder that increases the risk of developing various types of tumors, including desmoids. Understanding these alternative names and related terms is crucial for healthcare professionals when diagnosing, coding, and discussing treatment options for patients with desmoid tumors.

In summary, the ICD-10 code D48.116 for desmoid tumors of the lower extremity and pelvic girdle encompasses a range of alternative names and related terms that reflect the tumor's characteristics and clinical implications. Recognizing these terms can facilitate better communication among healthcare providers and improve patient care.

Treatment Guidelines

Desmoid tumors, also known as aggressive fibromatosis, are benign but locally aggressive tumors that can arise in various locations, including the lower extremities and pelvic girdle. The ICD-10 code D48.116 specifically refers to desmoid tumors located in these areas. Treatment approaches for desmoid tumors can vary based on several factors, including tumor size, location, symptoms, and the patient's overall health. Below is a comprehensive overview of standard treatment approaches for desmoid tumors.

Overview of Desmoid Tumors

Desmoid tumors are characterized by their fibrous tissue composition and can occur sporadically or in association with familial adenomatous polyposis (FAP). Although they are not malignant, they can cause significant morbidity due to their aggressive local behavior and potential to invade surrounding tissues[1].

Standard Treatment Approaches

1. Observation

In many cases, especially when the desmoid tumor is asymptomatic and not causing functional impairment, a "watchful waiting" approach may be adopted. Regular monitoring through imaging studies allows for the assessment of tumor growth without immediate intervention. This approach is often preferred for smaller tumors or those that do not exhibit aggressive behavior[1].

2. Surgical Resection

Surgical intervention is a common treatment for desmoid tumors, particularly when they are symptomatic or growing. The goal of surgery is to achieve complete resection with clear margins to minimize the risk of recurrence. However, due to the infiltrative nature of these tumors, achieving clear margins can be challenging. Surgical options may include:

  • Wide Local Excision: This involves removing the tumor along with a margin of healthy tissue.
  • Limb-Sparing Surgery: In cases where the tumor is located in the extremities, efforts are made to preserve limb function while excising the tumor[1].

3. Radiation Therapy

Radiation therapy may be considered for patients who are not surgical candidates or for those with residual disease after surgery. Intensity-modulated radiation therapy (IMRT) is one technique that can be used to target the tumor while sparing surrounding healthy tissue. Radiation therapy can also be an option for recurrent tumors[2].

4. Medical Therapy

For patients with unresectable or recurrent desmoid tumors, systemic medical therapies may be employed. These can include:

  • Nonsteroidal Anti-Inflammatory Drugs (NSAIDs): Some studies suggest that NSAIDs may help reduce tumor size or slow growth.
  • Hormonal Therapy: Agents such as tamoxifen or aromatase inhibitors have been explored, particularly in hormone-sensitive tumors.
  • Targeted Therapies: Newer agents, such as tyrosine kinase inhibitors (e.g., imatinib), have shown promise in clinical trials for desmoid tumors[1][2].

5. Clinical Trials

Given the complexity and variability of desmoid tumors, participation in clinical trials may be an option for patients seeking access to novel therapies. These trials often explore new medical treatments, combinations of therapies, or innovative surgical techniques[1].

Conclusion

The management of desmoid tumors, particularly those coded under ICD-10 D48.116, requires a multidisciplinary approach tailored to the individual patient's circumstances. While observation may be appropriate for asymptomatic cases, surgical resection remains a cornerstone of treatment for symptomatic or aggressive tumors. Radiation and medical therapies provide additional options, especially for patients with challenging cases. Ongoing research and clinical trials continue to enhance our understanding and treatment of these unique tumors, offering hope for improved outcomes in the future.

For patients diagnosed with desmoid tumors, it is crucial to consult with a specialized medical team to determine the most appropriate treatment strategy based on their specific situation and tumor characteristics.

Related Information

Diagnostic Criteria

  • Localized pain in lower extremity
  • Swelling in pelvic region
  • Palpable mass detected
  • Previous surgeries or trauma history
  • Familial predispositions checked
  • Ultrasound for initial imaging
  • MRI preferred for detailed images
  • CT scan for bony structure assessment
  • Biopsy with needle aspiration
  • Excisional biopsy for larger tumors
  • Fibroblastic proliferation in histopathology
  • Lack of significant cellular atypia
  • Infiltrative growth pattern observed
  • Beta-catenin staining performed

Description

  • Benign but locally aggressive tumor
  • Arises from connective tissue
  • Can occur in lower extremities and pelvic girdle
  • Grows slowly or rapidly
  • Variable size, from small to large masses
  • Can recur after surgical removal
  • Pain, swelling, palpable mass symptoms

Clinical Information

  • Painless masses in lower extremities
  • Benign but locally aggressive tumors
  • Commonly found in soft tissues of pelvic girdle
  • Variably sized and deep-seated
  • Pain or discomfort may occur if compressing nearby structures
  • Limited range of motion possible if near joints
  • Recurrence common after surgical excision
  • More common in young adults (15-60 years)
  • Female predominance in some studies
  • Genetic factors: FAP syndrome increases risk
  • History of trauma or surgery may contribute to development

Approximate Synonyms

  • Desmoid Fibroma
  • Aggressive Fibromatosis
  • Desmoid-Type Fibromatosis
  • Deep Fibromatosis
  • Benign Neoplasm
  • Soft Tissue Tumor
  • Fibrous Tumor
  • Tumor of Uncertain Behavior

Treatment Guidelines

  • Observation for small asymptomatic tumors
  • Surgical resection with wide local excision
  • Limb-sparing surgery for extremity tumors
  • Radiation therapy for inoperable or recurrent tumors
  • NSAIDs to reduce tumor growth
  • Hormonal therapy for hormone-sensitive tumors
  • Targeted therapies like tyrosine kinase inhibitors

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