Lymphangioleimyomatosis (LAM) is a rare histologic finding seen in tuberous sclerosis (TSC), a multisystem autosomal dominant disorder seen almost exclusively in women. We report the case of a man with TSC and LAM presenting with recurrent pneumothorax.
The patient is a 29-year-old African-American male smoker with 3 biological children, diabetes, hypertension, chronic renal insufficiency, spontaneous pneumothorax 6 months ago, presenting with dyspnea and right shoulder pain after falling. He denies chest pain and seizure. He is a hospital custodian and denies exposures or pets.Exam reveals blood pressure, 170/90,room air oxygen saturation of 97% and otherwise stable vital signs. He appears comfortable with clear symmetric breath sounds. He has multiple facial subcentimeter flesh color papules and nodules. The remainder of his exam is unremarkable.The abnormal lab is a creatinine of 2.2mg/dl. Chest x-ray shows diffuse reticular infiltrates and a small right side pneumothorax. A chest CT shows the right pneumothorax and multiple bilateral thin walled cysts.After a chest tube and a persistent air leak, the patient had thoracoscopy, biopsy and pleuradesis.The biopsy showed LAM and multifocal micronodular pneumoncyte hyperplasia (MNPH).A renal ultrasound showed renal cysts and a brain MRI showed an archnoid cyst and a subependymal nodule. Pulmonary function testing showed only an abnormal DLCO, 60% predicted.DISCUSSION: TSC affects the skin, CNS, kidneys, heart and lungs. Pulmonary pathology includes MNPH, clear cell micronodules, angiomyolipoma, localized angiomyolipoma-like infiltrative lesion and LAM.With a prevalence of 1 per 1.1 million, LAM almost exclusively affects premenopausal women and in women with TSC its prevalence is 4-34%, with few recent cases in men. LAM is characterized by a proliferation of unique smooth muscle cells that can present with pulmonary manifestations causing progressive respiratory failure resulting in death or transplantation.
LAM pathology is exceedingly unusual in men, presenting therapeutic challenges that cannot be treated by hormonal modulation.
D.A. Nasser, None.