Figure 2: the initial chest X-ray of the patient showing right sided hydropneumothorax.
Although spontaneous hydropneumothorax in a young female of reproductive age group is not that uncommon, especially in a lean, thinly built, tall individual, the finding of specific skin lesions in association with the aforementioned clinical profile raised possibility of some underlying disease as the cause of the hydropneumothorax.
The prime candidates were lymphangioleiomyomatosis with tuberous sclerosis (with the skin lesions being that of adenoma sebaceum) and Birt-Hogg-Dube syndrome (BHD) (skin lesions could be fibrofolliculoma). The other possibilities included Marfan’s syndrome (associated with hereditary predisposition to pneumothorax and tall, thinly built people with hyperextensible joints and multiple other deformities), Cutis Laxa, alpha-1-antitrypsin deficiency along with common differentials of hydropneumothorax such as bronchopleural fistula due to infective causes, secondary infection of a primary spontaneous pneumothorax etc. The latter ones had little clinical evidence to gain any support as plausible diagnoses.
Even among the first two, LAM associated with TSC was far more likely than the others. But tuberous sclerosis patients usually show a spectrum of mental retardation, gives some history of seizure or other neurological symptoms, none of which was found in this patient despite meticulous history taking.
On closer examination, the patient also had hypopigmented macules on her back (FIG 1:B) , and confetti-like patches of hypopigmented lesions scattered over her back and extremities.
Patient’s dyspnea was managed with insertion of an intercostal drain in her right 4th intercostal space at the midaxillary line and over time her right lung gradually re-expanded. Her pleural fluid analysis showed characters of an exudate rich in mixed inflammatory cells predominantly lymphocytes (55%) with an ADA value of 7 mg/dl. Lipid analysis of the fluid revealed that the triglyceride levels was 39 mg/dl. Pap smear and Malignant cell block did not reveal any evidence of malignancy.
In the meantime, further investigations were planned including a contrast enhanced CT scan of the thorax along with a thin slice high-resolution CT thorax, MRI brain, CT abdomen and echocardiography. Spirometry with bronchodilator reversibility test was delayed until the full expansion of the right lung.. A dermatologist’s opinion was sought along with that of a neurologist and radiologist in interpreting the clinico-radiological spectrum of the patient from their perspectives.