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04:44
Imaging Features of Systemic Sclerosis-Associated Interstitial Lung Disease
Published on: June 16, 2020
The lungs in tuberous sclerosis complex. A case report
N C Iheonunekwu1, T M Ibrahim, B D Crosdale
1Department of Medicine, Peebles Hospital, Road Town, Tortola, British Virgin Islands. nelchuks@yahoo.com
The West Indian Medical Journal
|October 4, 2007
Summary
Tuberous sclerosis complex (TSC) can affect the lungs, a rare but serious complication. This neurocutaneous disorder should be considered in patients with interstitial lung disease, particularly those with skin lesions.
Area of Science:
- Pulmonary Medicine
- Genetics
- Dermatology
Background:
- Tuberous sclerosis complex (TSC) is a genetic disorder primarily affecting the skin and nervous system.
- Pulmonary involvement in TSC, including lymphangioleiomyomatosis (LAM) and multifocal micronodular pneumocyte hyperplasia (MMPH), is increasingly recognized.
- Interstitial lung disease (ILD) is a less common but significant manifestation of TSC.
Observation:
- A 51-year-old female presented with progressive shortness of breath.
- Diagnostic workup revealed interstitial lung disease.
- The patient was diagnosed with tuberous sclerosis complex.
Findings:
- The case highlights a rare presentation of tuberous sclerosis complex with interstitial lung disease.
- Pulmonary manifestations of TSC, though infrequent, can be severe and impact quality of life.
- Early recognition of lung involvement in TSC is crucial for timely management.
Implications:
- Tuberous sclerosis complex should be included in the differential diagnosis for patients presenting with interstitial lung disease, especially when accompanied by characteristic cutaneous lesions.
- Increased awareness among clinicians can lead to earlier diagnosis and intervention for pulmonary complications of TSC.
- Further research into the pathogenesis and treatment of lung disease in TSC is warranted.
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