A case of tuberous sclerosis presenting with recurrent pneumothoraces
- Resource Type
- Authors
- Maryam Shamassi; Siamak Sakhaie
- Source
- Pathology. 47:S73
- Subject
- Pathology
medicine.medical_specialty
Lung
business.industry
Genetic disorder
medicine.disease
Work-up
Pathology and Forensic Medicine
Tuberous sclerosis
medicine.anatomical_structure
Pneumothorax
Lymphangioleiomyomatosis
medicine
Complication
business
Wedge resection (lung)
- Language
- ISSN
- 0031-3025
Introduction Lymphangioleiomyomatosis (LAM) is a rare multisystem disease that affects women of reproductive age. It can occur sporadically or in association with the genetic disorder tuberous sclerosis complex (TSC). One-third of the patients present with recurrent pneumothoraces. Case reports We report a case of a 27-year-old woman who underwent wedge resection of lung because of recurrent pneumothoraces. The histological examination revealed a proliferation of smooth muscle-like cells around thick wall blood vessels and within the parenchyma which was later proved to be consistent with lymphangioleiomyomatosis. The reporting pathologist recommended a full work up for tuberous sclerosis. Further imaging also showed bilateral renal angiomyolipomas. Conclusion The pulmonary manifestations of TSC are the same as those of sporadic lymphangioleiomyomatosis (LAM). Most affected individuals present with dyspnoea; for some, the diagnosis is heralded by a spontaneous pneumothorax, a complication that affects approximately one-third of patients with TSC-associated lung disease. A high level of suspicion is required when examining the lung biopsies in patients, especially females with recurrent pneumothoraces and the pathologist should have a low threshold to order immunohistochemical stains for HMB45.