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.