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Muir-Torre syndrome
ICD-10 Codes
Related ICD-10:
Description
Muir-Torre Syndrome: A Rare Inherited Disorder
Muir-Torre syndrome (MTS) is a rare, inherited disorder that affects the skin and internal organs. It is characterized by the development of sebaceous tumors in the skin, often accompanied by internal malignancies.
Key Features:
- Sebaceous Tumors: MTS is marked by the presence of sebaceous tumors, which are benign or malignant growths that occur on the face, scalp, and eyelids.
- Internal Malignancies: The syndrome is also associated with internal malignancies, particularly in the gastrointestinal tract, genitourinary tract, and other areas.
- Inherited Trait: MTS is an autosomal dominant disorder, meaning that a single copy of the mutated gene is sufficient to cause the condition. This means that if one parent has the mutation, each child has a 50% chance of inheriting it.
Other Characteristics:
- Rare Condition: MTS is a rare syndrome, affecting only a small number of people worldwide.
- Genetic Mutation: The syndrome is caused by mutations in DNA mismatch repair genes, such as MLH1, MSH2, and MSH6.
- Association with Lynch Syndrome: MTS is considered a subtype of hereditary non-polyposis colorectal cancer (HNPCC), also known as Lynch syndrome.
References:
- [3] describes MTS as a rare inherited disorder that causes tumors to form in the oil glands in skin and in at least one internal organ.
- [5] states that MTS is caused by germline variants in the DNA mismatch repair genes, such as MLH1, MSH2, and MSH6.
- [6] notes that MTS is an inherited disorder sometimes found in people with colorectal cancer, caused by a mutation in one of the DNA mismatch repair (MMR) genes.
Additional Characteristics
- sebaceous tumors
- internal malignancies
- autosomal dominant disorder
- rare condition
- genetic mutation
- association with Lynch Syndrome
Signs and Symptoms
Muir-Torre Syndrome: Signs and Symptoms
Muir-Torre syndrome (MTS) is a rare inherited disorder that involves the growth of tumors on the skin and in internal organs. The primary symptoms of MTS are characterized by the presence of specific types of skin or internal cancers.
- Skin Lesions: One of the first signs of MTS can be skin lesions, which may be benign (not cancer) or malignant. Sebaceous adenoma is the most frequent symptom in MTS patients [5].
- Stomach Cancer: Stomach cancer is another common cancer associated with MTS [1].
- Bloating and Rectal Bleeding: Symptoms include stomach pain, bloating, poop changes, and rectal bleeding [1].
- Visceral Malignancies: The presence of specific types of skin or internal cancers are the primary symptoms of MTS. This can include tumors in the colon, small intestine, and other organs [4].
It's essential to note that Muir-Torre syndrome is a rare condition, and these symptoms may not be present in every individual with the disorder.
References: [1] Symptoms include stomach pain and bloating, poop changes and rectal bleeding. Stomach cancer is another common cancer in Muir-Torre syndrome. [4] The presence of specific types of skin or internal cancers are the primary symptoms of MTS. Skin Cancers. Sebaceous adenoma is the most frequent symptom in ... [5] by A Pancholi · 2008 · Cited by 12 — Muir–Torre syndrome is a rare, autosomal-dominant, genetic condition. It is defined by the occurrence of sebaceous tumours (sebaceous adenoma, epithelioma or ...
Additional Symptoms
- Skin Lesions
- Stomach Cancer
- Bloating and Rectal Bleeding
- Visceral Malignancies
Diagnostic Tests
Diagnostic Tests for Muir-Torre Syndrome
Muir-Torre syndrome (MTS) is a rare genetic disorder that increases the risk of developing skin and gastrointestinal tumors. Diagnostic testing plays a crucial role in identifying individuals with MTS.
- Genetic Testing: Genetic testing for MTS involves analyzing a sample of blood or tissue to identify mutations in the mismatch repair genes MSH2, MLH1, MSH6, PMS2, or the base excision repair gene MUTYH. This test can help confirm the diagnosis of MTS and identify individuals who are at risk of developing the condition [1][3].
- Imaging Studies: Imaging studies such as CT scans, MRI, or PET scans may be used to detect visceral malignancies associated with MTS [4][8].
- Skin Biopsy: A skin biopsy may be performed to diagnose sebaceous tumors and other skin lesions associated with MTS [5][9].
Specialist Referrals
Individuals suspected of having MTS should consult a specialist, such as a genetic counselor or a medical oncologist. These specialists can help coordinate diagnostic testing, interpret results, and develop a
Additional Diagnostic Tests
- Imaging Studies
- Skin Biopsy
- Genetic Testing
Treatment
Treatment Options for Muir-Torre Syndrome
Muir-Torre syndrome, a rare genetic disorder characterized by an increased risk of developing certain types of cancer, can be managed with various treatment options.
- Oral Isotretinoin: This medication has been shown to prevent the development of further cutaneous tumors and visceral malignancies in patients with Muir-Torre syndrome [7][8]. It is often prescribed as a preventative measure to reduce the risk of tumor formation.
- Surgical Removal: Excisional removal of sebaceous tumors and keratoacanthomas (KAs) is also a common treatment approach for Muir-Torre syndrome [7].
- Targeted Immunotherapy: Recent studies have explored the use of targeted immunotherapy, such as pembrolizumab, in patients with high microsatellite instability (MSI-H)/mismatch repair deficient (dMMR) tumors, including those associated with Muir-Torre syndrome [9].
It is essential to note that treatment for Muir-Torre syndrome typically involves a multidisciplinary approach, and the most effective treatment plan may vary depending on individual patient needs.
References:
[7] Treatment for MTS consists of excisional removal of sebaceous tumors and KAs. Oral isotretinoin has been shown to prevent the development of further cutaneous ... [8] Treatment. Treatment of Muir
Recommended Medications
- Oral Isotretinoin
- Surgical Removal
- Targeted Immunotherapy
💊 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
Muir-Torre syndrome (MTS) is a rare genetic disorder characterized by an increased risk of developing certain types of cancer, particularly skin and visceral malignancies. When diagnosing MTS, it's essential to consider the differential diagnosis, which includes other conditions that may present with similar symptoms.
Differential Diagnosis:
- Lynch syndrome (HNPCC): Also known as hereditary nonpolyposis colorectal cancer, Lynch syndrome is a genetic disorder that increases the risk of developing colorectal, endometrial, ovarian, and other cancers.
- MUTYH-associated polyposis: This is another genetic condition that predisposes individuals to develop multiple polyps in the colon, which can increase the risk of colorectal cancer.
- Basal cell naevus syndrome: Also known as Gorlin syndrome, this rare genetic disorder is characterized by an increased risk of developing basal cell carcinomas and other types of skin cancers.
- Birt–Hogg–Dubé syndrome: This is a rare genetic disorder that increases the risk of developing lung cysts, pneumothorax, and certain types of cancer, including colorectal and breast cancer.
- Cowden disease: Also known as PTEN hamartoma tumor syndrome, Cowden disease is a rare genetic disorder that increases the risk of developing multiple tumors in various organs, including the skin, thyroid, and breast.
- Tuberous sclerosis: This is another rare genetic disorder that increases the risk of developing benign tumors in various organs, including the skin, brain, and kidneys.
Key Points:
- Muir-Torre syndrome should be considered in individuals with a family history of MTS or other hereditary cancer syndromes.
- A thorough medical history and physical examination are essential for diagnosing MTS and ruling out other conditions.
- Genetic testing may be necessary to confirm the diagnosis of MTS.
References:
- [1] Muir-Torre syndrome is a variant of several hereditary cancer syndromes, including Lynch syndrome (HNPCC) and MUTYH-associated polyposis. (Source: #2)
- The differential diagnosis for Lynch syndrome includes Basal cell naevus syndrome, Birt–Hogg–Dubé syndrome, Cowden disease, and Tuberous sclerosis. (Source: #4)
- Muir-Torre syndrome should be considered in individuals with a family history of MTS or other hereditary cancer syndromes. (Source: #6)
Additional Differential Diagnoses
- MUTYH-associated polyposis
- Basal cell naevus syndrome
- Cowden disease
- N syndrome
- Lynch syndrome 1
- tuberous sclerosis 1
- hereditary nonpolyposis colorectal cancer type 6
- hereditary nonpolyposis colorectal cancer type 4
- hereditary nonpolyposis colorectal cancer type 7
- epidermal appendage tumor
Additional Information
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- A Lynch syndrome that is characterized by a propensity to develop cancers of the gastrointestinal tract, genitourinary tract, and skin that has_material_basis_in mutations in DNA mismatch repair genes.
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